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
UBE2J2	118424	broad.mit.edu	37	1	1190726	1190726	+	Missense_Mutation	SNP	C	C	T	rs115989405	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:1190726C>T	uc001adn.2	-	7	947	c.637G>A	c.(637-639)GTC>ATC	p.V213I	UBE2J2_uc001adm.2_Missense_Mutation_p.V178I|UBE2J2_uc001ado.2_Missense_Mutation_p.V229I|UBE2J2_uc001adp.2_Missense_Mutation_p.V213I|UBE2J2_uc001adq.2_Missense_Mutation_p.V161I|UBE2J2_uc001adr.2_Missense_Mutation_p.V161I|UBE2J2_uc001ads.2_Missense_Mutation_p.V161I	NM_194458	NP_919440	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 3	213	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		AGGTTTGGGACGGCCCCCGGC	0.647000												
ACAP3	116983	broad.mit.edu	37	1	1233229	1233229	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:1233229G>A	uc001aeb.2	-	14	1175	c.1101C>T	c.(1099-1101)CGC>CGT	p.R367R	ACAP3_uc001ady.2_Silent_p.R97R|ACAP3_uc001aea.2_Silent_p.R325R	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	367					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						CAGGGCTCTCGCGGTAGGCGG	0.692000												
CPSF3L	54973	broad.mit.edu	37	1	1248444	1248444	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:1248444G>A	uc001aee.1	-	11	1160	c.1102C>T	c.(1102-1104)CGG>TGG	p.R368W	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.R374W|CPSF3L_uc009vjz.1_Missense_Mutation_p.R346W|CPSF3L_uc010nyj.1_Missense_Mutation_p.R339W|CPSF3L_uc001aeg.1_Missense_Mutation_p.R244W|CPSF3L_uc001aeh.1_Missense_Mutation_p.R267W|CPSF3L_uc001aei.1_Missense_Mutation_p.R270W|CPSF3L_uc001aej.1_Missense_Mutation_p.R195W|CPSF3L_uc001aek.1_Missense_Mutation_p.R110W	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	368						Golgi apparatus|nucleus	hydrolase 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TCGAGCTTCCGCTGCCCGCTG	0.687000												
DVL1	1855	broad.mit.edu	37	1	1275151	1275151	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:1275151G>A	uc001aer.3	-	9	998	c.951C>T	c.(949-951)GCC>GCT	p.A317A	DVL1_uc002quu.2_Silent_p.A34A|DVL1_uc009vka.2_5'UTR|DVL1_uc001aeu.1_Missense_Mutation_p.P4L	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	317	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCACCCGCACGGCATCGTCAT	0.657000												
ACTRT2	140625	broad.mit.edu	37	1	2939191	2939191	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:2939191G>A	uc001ajz.2	+	1	1146	c.941G>A	c.(940-942)CGG>CAG	p.R314Q		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	314						cytoplasm|cytoskeleton					0	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)		CTGGATGACCGGCTTCTCAAG	0.602000												
PRDM16	63976	broad.mit.edu	37	1	3328020	3328020	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:3328020G>A	uc001akf.2	+	9	1339	c.1259G>A	c.(1258-1260)CGC>CAC	p.R420H	PRDM16_uc001akc.2_Missense_Mutation_p.R420H|PRDM16_uc001akd.2_Missense_Mutation_p.R420H|PRDM16_uc001ake.2_Missense_Mutation_p.R420H|PRDM16_uc009vlh.2_Missense_Mutation_p.R121H	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	420					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)		GCCGACTGCCGCACGCAGATC	0.572000			T	EVI1	MDS|AML							
MEGF6	1953	broad.mit.edu	37	1	3424477	3424477	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:3424477C>T	uc001akl.2	-	14	1898	c.1671G>A	c.(1669-1671)CCG>CCA	p.P557P	MEGF6_uc001akk.2_Silent_p.P452P	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	557						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CAAAGGTGTCCGGAGGACAAG	0.602000												
MEGF6	1953	broad.mit.edu	37	1	3425231	3425231	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:3425231G>A	uc001akl.2	-	13	1778	c.1551C>T	c.(1549-1551)GGC>GGT	p.G517G	MEGF6_uc001akk.2_Silent_p.G412G	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	517	EGF-like 9.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TGCAGTCATGGCCAAAGGAGT	0.642000												
MEGF6	1953	broad.mit.edu	37	1	3432062	3432062	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:3432062C>T	uc001akl.2	-	6	861	c.634G>A	c.(634-636)GGC>AGC	p.G212S	MEGF6_uc001akk.2_Missense_Mutation_p.G107S	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	212	EGF-like 3.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TGCTGGCAGCCGCCATTGCCC	0.647000												
PLEKHG5	57449	broad.mit.edu	37	1	6533156	6533156	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:6533156G>A	uc001ano.1	-	10	1143	c.1042C>T	c.(1042-1044)CTG>TTG	p.L348L	PLEKHG5_uc001ann.1_Silent_p.L329L|PLEKHG5_uc001anq.1_Silent_p.L369L|PLEKHG5_uc001anp.1_Silent_p.L369L|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Silent_p.L132L|PLEKHG5_uc010nzr.1_Silent_p.L361L|PLEKHG5_uc001ank.1_Silent_p.L292L|PLEKHG5_uc009vmb.1_Silent_p.L292L|PLEKHG5_uc001anl.1_Silent_p.L292L|PLEKHG5_uc001anm.1_Silent_p.L292L	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	348					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCGAAGCGCAGCCCCCGGGGC	0.617000												
TAS1R1	80835	broad.mit.edu	37	1	6634730	6634730	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:6634730C>T	uc001ant.2	+	3	538	c.538C>T	c.(538-540)CGG>TGG	p.R180W	TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Missense_Mutation_p.R180W	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	180	Extracellular (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CAGCGTGAAGCGGCAGTATCC	0.453000												
CAMTA1	23261	broad.mit.edu	37	1	7723546	7723546	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:7723546C>T	uc001aoi.2	+	9	1146	c.939C>T	c.(937-939)CAC>CAT	p.H313H		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGGGCAAGCACGAGCACAGCC	0.652000												
RERE	473	broad.mit.edu	37	1	8416191	8416191	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:8416191G>A	uc001ape.2	-	22	5265	c.4455C>T	c.(4453-4455)CAC>CAT	p.H1485H	RERE_uc001apf.2_Silent_p.H1485H|RERE_uc001apd.2_Silent_p.H931H	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1485	Pro-rich.				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)		TCTCGTGCTCGTGTGGGGGCT	0.662000												
PIK3CD	5293	broad.mit.edu	37	1	9781845	9781845	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:9781845C>T	uc001aqb.3	+	16	2190	c.1982C>T	c.(1981-1983)GCC>GTC	p.A661V	PIK3CD_uc010oaf.1_Missense_Mutation_p.A660V|PIK3CD_uc001aqe.3_Missense_Mutation_p.A685V	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	661					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CCGTCGGTGGCCCTGCGCTTC	0.687000											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CLSTN1	22883	broad.mit.edu	37	1	9795563	9795563	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:9795563C>T	uc001aqh.2	-	13	2604	c.1845G>A	c.(1843-1845)ACG>ACA	p.T615T	CLSTN1_uc001aqi.2_Silent_p.T605T|CLSTN1_uc010oag.1_Silent_p.T596T|CLSTN1_uc001aqf.2_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	615	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GAATTCCGGGCGTGGGGAACT	0.502000												
UBE4B	10277	broad.mit.edu	37	1	10211398	10211398	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:10211398C>T	uc001aqs.3	+	21	3418	c.2705C>T	c.(2704-2706)GCG>GTG	p.A902V	UBE4B_uc001aqr.3_Missense_Mutation_p.A773V|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.A357V|UBE4B_uc001aqt.1_Missense_Mutation_p.A242V	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	902					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCTCCCCAGGCGCTTTATGAG	0.473000												
MTOR	2475	broad.mit.edu	37	1	11184640	11184640	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:11184640G>A	uc001asd.2	-	47	6698	c.6577C>T	c.(6577-6579)CGC>TGC	p.R2193C	MTOR_uc001asc.2_Missense_Mutation_p.R398C	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2193	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						TCATCCTGGCGCAGATCTTCA	0.507000												
MTOR	2475	broad.mit.edu	37	1	11204707	11204707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:11204707G>A	uc001asd.2	-	34	4991	c.4870C>T	c.(4870-4872)CAG>TAG	p.Q1624*		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1624	FAT.				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						AAGCTCACCTGCAGTCTCTCC	0.582000												
UQCRHL	440567	broad.mit.edu	37	1	16134105	16134105	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:16134105C>T	uc009vol.1	-	1	90	c.40G>A	c.(40-42)GGA>AGA	p.G14R		NM_001089591	NP_001083060			ubiquinol-cytochrome c reductase hinge												0						tcAGGATCTCCGGATTCGGTA	0.413000												
C1orf151	440574	broad.mit.edu	37	1	19923596	19923596	+	Silent	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:19923596G>T	uc001bci.1	+	1	130	c.57G>T	c.(55-57)GTG>GTT	p.V19V	C1orf151_uc001bch.1_RNA|NBL1_uc009vpl.1_5'UTR	NM_001032363	NP_001027535	Q5TGZ0	CA151_HUMAN	chromosome 1 open reading frame 151 protein	19	Helical; (Potential).					integral to membrane|mitochondrion				central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000323)|Lung NSC(340;0.000401)|Breast(348;0.00043)|Ovarian(437;0.00374)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.58e-05)|Kidney(64;0.000191)|GBM - Glioblastoma multiforme(114;0.000696)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		ATGCGGTCGTGAAGATAGGTA	0.692000												
RAP1GAP	5909	broad.mit.edu	37	1	21937954	21937954	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:21937954G>A	uc001bex.2	-	13	1092	c.834C>T	c.(832-834)GAC>GAT	p.D278D	RAP1GAP_uc001bev.2_Silent_p.D278D|RAP1GAP_uc001bew.2_Silent_p.D342D|RAP1GAP_uc001bey.2_Silent_p.D278D	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	278	Rap-GAP.				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)		CCTGCTGGGCGTCCCCTTCCG	0.617000												
ARID1A	8289	broad.mit.edu	37	1	27106648	27106648	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:27106648G>A	uc001bmv.1	+	20	6632	c.6259G>A	c.(6259-6261)GGA>AGA	p.G2087R	ARID1A_uc001bmu.1_Missense_Mutation_p.G1870R|ARID1A_uc001bmx.1_Missense_Mutation_p.G933R|ARID1A_uc009vsm.1_Missense_Mutation_p.G415R|ARID1A_uc009vsn.1_Missense_Mutation_p.G329R	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2087	LXXLL.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		TGTCCTGGACGGACTCCTACA	0.592000			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
PIGV	55650	broad.mit.edu	37	1	27121087	27121087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:27121087C>T	uc001bmz.2	+	3	893	c.562C>T	c.(562-564)CGA>TGA	p.R188*	PIGV_uc001bmy.2_Intron|PIGV_uc009vso.2_Nonsense_Mutation_p.R188*|PIGV_uc010ofg.1_Intron|PIGV_uc001bna.2_Nonsense_Mutation_p.R188*	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	188	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GGAGAGGGGCCGAGTCTGGAC	0.552000												
PTPRU	10076	broad.mit.edu	37	1	29586039	29586039	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:29586039C>T	uc001bru.2	+	5	748	c.638C>T	c.(637-639)GCG>GTG	p.A213V	PTPRU_uc001brv.2_Missense_Mutation_p.A213V|PTPRU_uc001brw.2_Missense_Mutation_p.A213V|PTPRU_uc009vtq.2_Missense_Mutation_p.A213V|PTPRU_uc009vtr.2_Missense_Mutation_p.A213V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	213	Extracellular (Potential).|Ig-like C2-type.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCATGGCCGCGGGCAGAGCG	0.687000												
SPOCD1	90853	broad.mit.edu	37	1	32280324	32280324	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:32280324C>A	uc001bts.1	-	2	669	c.611G>T	c.(610-612)AGG>ATG	p.R204M	SPOCD1_uc001btu.2_Missense_Mutation_p.R204M|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	204					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTTTCTTACCCTCACAGGGAC	0.577000												
THRAP3	9967	broad.mit.edu	37	1	36752135	36752135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:36752135G>T	uc001cae.3	+	4	528	c.304G>T	c.(304-306)GGA>TGA	p.G102*	THRAP3_uc001caf.3_Nonsense_Mutation_p.G102*|THRAP3_uc001cag.1_Nonsense_Mutation_p.G102*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	102	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATATAACCGAGGAGGCTATGG	0.517000			T	USP6	aneurysmal bone cysts							
THRAP3	9967	broad.mit.edu	37	1	36756997	36756997	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:36756997G>A	uc001cae.3	+	6	1992	c.1768G>A	c.(1768-1770)GAA>AAA	p.E590K	THRAP3_uc001caf.3_Missense_Mutation_p.E590K	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	590					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATTGGCTCAGGAACGCAAGCT	0.423000			T	USP6	aneurysmal bone cysts							
CAP1	10487	broad.mit.edu	37	1	40533259	40533259	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:40533259C>T	uc001cfa.3	+	8	907	c.678C>T	c.(676-678)GCC>GCT	p.A226A	CAP1_uc001cey.3_Silent_p.A226A|CAP1_uc001cez.3_Silent_p.A226A|CAP1_uc009vvz.2_Silent_p.A226A|CAP1_uc010oje.1_Silent_p.A143A	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	226	Ala/Pro/Ser-rich.				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCCTCTGCCGGATCATGTC	0.572000												
SCMH1	22955	broad.mit.edu	37	1	41582667	41582667	+	Missense_Mutation	SNP	G	G	A	rs140656390	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:41582667G>A	uc001cgo.2	-	7	709	c.398C>T	c.(397-399)GCG>GTG	p.A133V	SCMH1_uc010ojr.1_Intron|SCMH1_uc001cgp.2_Missense_Mutation_p.A72V|SCMH1_uc001cgr.2_Missense_Mutation_p.A72V|SCMH1_uc001cgs.2_Missense_Mutation_p.A143V|SCMH1_uc001cgt.2_Missense_Mutation_p.A72V|SCMH1_uc001cgq.2_Missense_Mutation_p.A86V|SCMH1_uc010ojs.1_RNA	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	133					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCAAGAAGACGCATTCAGCCG	0.383000												
KIAA0467	23334	broad.mit.edu	37	1	43908512	43908512	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:43908512C>T	uc001cjk.1	+	44	5939	c.5477C>T	c.(5476-5478)CCG>CTG	p.P1826L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2725						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCCTGCTGCCGACCATGGAA	0.612000												
PTPRF	5792	broad.mit.edu	37	1	44084972	44084972	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:44084972C>T	uc001cjr.2	+	28	5000	c.4660C>T	c.(4660-4662)CGC>TGC	p.R1554C	PTPRF_uc001cjs.2_Missense_Mutation_p.R1545C|PTPRF_uc001cju.2_Missense_Mutation_p.R943C|PTPRF_uc009vwt.2_Missense_Mutation_p.R1114C|PTPRF_uc001cjv.2_Missense_Mutation_p.R1025C|PTPRF_uc001cjw.2_Missense_Mutation_p.R780C	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1554	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).|Substrate binding (By similarity).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGGCGTGGGCCGCACCGGCTG	0.642000												
IPO13	9670	broad.mit.edu	37	1	44429947	44429947	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:44429947G>A	uc001ckx.2	+	15	3146	c.2351G>A	c.(2350-2352)AGG>AAG	p.R784K	IPO13_uc001cky.2_5'Flank	NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	784					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTAGGGCCCAGGGATCATCCT	0.378000												
PLK3	1263	broad.mit.edu	37	1	45271288	45271288	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:45271288C>T	uc001cmn.2	+	15	1979	c.1879C>T	c.(1879-1881)CCA>TCA	p.P627S	PLK3_uc001cmo.2_RNA|BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	627	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					GGGCTGCTCTCCAGACCTGCG	0.637000												
HECTD3	79654	broad.mit.edu	37	1	45470328	45470328	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:45470328G>A	uc009vxk.2	-	16	2184	c.2086C>T	c.(2086-2088)CGT>TGT	p.R696C	HECTD3_uc001cmx.3_Missense_Mutation_p.R45C|HECTD3_uc001cmy.3_Missense_Mutation_p.R306C|HECTD3_uc010olh.1_Missense_Mutation_p.R412C	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	696	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					AAACGAGAACGGTCCCCATAT	0.557000												
C1orf190	541468	broad.mit.edu	37	1	46669228	46669228	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:46669228C>T	uc010oma.1	+	1	223	c.130C>T	c.(130-132)CTG>TTG	p.L44L	POMGNT1_uc001cpg.2_Intron|POMGNT1_uc001cpf.2_Intron	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	hypothetical protein LOC541468	44					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm				ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)					TGGCGCCCTGCTGCTCCCAGG	0.652000												
SLC5A9	200010	broad.mit.edu	37	1	48705022	48705022	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:48705022T>C	uc001cro.2	+	12	1542	c.1490T>C	c.(1489-1491)CTG>CCG	p.L497P	SLC5A9_uc001crn.2_Missense_Mutation_p.L522P|SLC5A9_uc010omt.1_Missense_Mutation_p.L511P|SLC5A9_uc001crp.2_Missense_Mutation_p.L164P|SLC5A9_uc010omu.1_Missense_Mutation_p.L164P|SLC5A9_uc009vyt.1_RNA	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	497	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						GTGTTTGGCCTGGGAGTGGGG	0.587000												
ZFYVE9	9372	broad.mit.edu	37	1	52800392	52800392	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:52800392G>A	uc001cto.2	+	15	3794	c.3622G>A	c.(3622-3624)GCT>ACT	p.A1208T	ZFYVE9_uc001ctp.2_Missense_Mutation_p.A1149T	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1208					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						GTTCAGTGGCGCTCTGAAATC	0.383000												
C1orf175	374977	broad.mit.edu	37	1	55167778	55167778	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:55167778C>T	uc010ooe.1	+	20	3625	c.3301C>T	c.(3301-3303)CGC>TGC	p.R1101C	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.R619C|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.R303C	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	1101	HEAT 3.					integral to membrane	binding				0						AGAGGTCGTGCGCTCCTCCTG	0.617000												
L1TD1	54596	broad.mit.edu	37	1	62675694	62675694	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:62675694A>G	uc001dae.3	+	4	1550	c.1248A>G	c.(1246-1248)GAA>GAG	p.E416E		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	416	Glu-rich.									ovary(1)|skin(1)	2						tggaggaggaagaagaagaag	0.249000												
ATG4C	84938	broad.mit.edu	37	1	63329809	63329809	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:63329809G>A	uc001dat.2	+	11	1518	c.1356G>A	c.(1354-1356)ACG>ACA	p.T452T	ATG4C_uc001dau.2_Silent_p.T452T	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	452					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						GATTTAGCACGGAAGAGTTTG	0.318000												
UBE2U	148581	broad.mit.edu	37	1	64707368	64707368	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:64707368A>G	uc001dbn.1	+	8	873	c.629A>G	c.(628-630)TAC>TGC	p.Y210C		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	210							ATP binding|protein binding|ubiquitin-protein ligase activity				0						GGACAGTATTACAAATGGAAG	0.264000												
DNAJC6	9829	broad.mit.edu	37	1	65858399	65858399	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:65858399T>G	uc001dcd.1	+	12	1747	c.1583T>G	c.(1582-1584)TTT>TGT	p.F528C	DNAJC6_uc001dcc.1_Missense_Mutation_p.F559C|DNAJC6_uc010opc.1_Missense_Mutation_p.F515C|DNAJC6_uc001dce.1_Missense_Mutation_p.F585C	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	528	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						AGTGACCTGTTTGGGGGTGGA	0.572000												
NEGR1	257194	broad.mit.edu	37	1	72400932	72400932	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:72400932G>A	uc001dfw.2	-	2	339	c.239C>T	c.(238-240)GCG>GTG	p.A80V	NEGR1_uc001dfv.2_5'UTR|NEGR1_uc010oqs.1_Missense_Mutation_p.A80V	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	80	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ATCACCTCCCGCAAAAATAAT	0.393000												
ZNF644	84146	broad.mit.edu	37	1	91406777	91406777	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:91406777T>G	uc001dnw.2	-	3	276	c.134A>C	c.(133-135)GAC>GCC	p.D45A	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.D45A	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAAATTGTTGTCATCTAGGAG	0.358000												
DPYD	1806	broad.mit.edu	37	1	98058819	98058819	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:98058819G>A	uc001drv.2	-	10	1220	c.1083C>T	c.(1081-1083)ATC>ATT	p.I361I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	361					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCTGAAGACGATGAACACAC	0.458000												
LPPR5	163404	broad.mit.edu	37	1	99469999	99469999	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:99469999C>T	uc001dsb.2	-	1	451	c.229G>A	c.(229-231)GTG>ATG	p.V77M	uc001dsd.1_RNA|LPPR5_uc001dsc.2_Missense_Mutation_p.V77M	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	77	Helical; (Potential).					integral to membrane	hydrolase activity				0						ACCACGAGCACGGGGACCCCG	0.721000												
AGL	178	broad.mit.edu	37	1	100382219	100382219	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:100382219G>A	uc001dsi.1	+	33	4813	c.4413G>A	c.(4411-4413)CCG>CCA	p.P1471P	AGL_uc001dsj.1_Silent_p.P1471P|AGL_uc001dsk.1_Silent_p.P1471P|AGL_uc001dsl.1_Silent_p.P1471P|AGL_uc001dsm.1_Silent_p.P1455P|AGL_uc001dsn.1_Silent_p.P1454P	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1471	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGATGGGCCCGGAGACTACTG	0.353000												
VAV3	10451	broad.mit.edu	37	1	108116784	108116784	+	Missense_Mutation	SNP	C	C	T	rs142668144	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:108116784C>T	uc001dvk.1	-	26	2441	c.2387G>A	c.(2386-2388)CGG>CAG	p.R796Q	VAV3_uc010ouu.1_Missense_Mutation_p.R228Q|VAV3_uc001dvj.1_Missense_Mutation_p.R236Q|VAV3_uc010ouv.1_Missense_Mutation_p.R200Q|VAV3_uc010ouw.1_Missense_Mutation_p.R824Q	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	796	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GAAGTCATACCGAGCGATGGC	0.428000												
C1orf59	113802	broad.mit.edu	37	1	109197431	109197431	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:109197431C>T	uc001dvt.3	-	5	543	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	C1orf59_uc001dvu.3_Missense_Mutation_p.R102Q|C1orf59_uc009wer.2_Missense_Mutation_p.R102Q	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	102					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)		ATTCAGATCCCGAGGTTTCAG	0.378000												
GNAI3	2773	broad.mit.edu	37	1	110128869	110128869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:110128869C>T	uc001dxz.2	+	6	779	c.622C>T	c.(622-624)CGA>TGA	p.R208*		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	208					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AAGATCAGAACGAAAAAAGTG	0.448000												
LRIG2	9860	broad.mit.edu	37	1	113657401	113657401	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:113657401T>C	uc001edf.1	+	15	2631	c.2433T>C	c.(2431-2433)ATT>ATC	p.I811I	LRIG2_uc009wgn.1_Silent_p.I708I	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	811	Helical; (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TTGTCATCATTGTTGTGGTCT	0.413000												
SYCP1	6847	broad.mit.edu	37	1	115418692	115418692	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:115418692A>C	uc001efr.2	+	10	869	c.660A>C	c.(658-660)AAA>AAC	p.K220N	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.K220N|SYCP1_uc009wgw.2_Missense_Mutation_p.K220N	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	220	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATTTCAGAAAATGATAACAG	0.264000												
SYCP1	6847	broad.mit.edu	37	1	115537372	115537372	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:115537372A>G	uc001efr.2	+	31	2966	c.2757A>G	c.(2755-2757)CCA>CCG	p.P919P	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Silent_p.P919P|SYCP1_uc009wgw.2_Silent_p.P894P	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	919					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAATAATCCACCAGCTTCTC	0.289000												
C1orf161	126868	broad.mit.edu	37	1	116663675	116663675	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:116663675G>A	uc001egc.1	+	3	436	c.171G>A	c.(169-171)ACG>ACA	p.T57T		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	hypothetical protein LOC126868	57											0	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACTCTGACACGTACAATGAAA	0.458000												
NOTCH2	4853	broad.mit.edu	37	1	120458868	120458868	+	Silent	SNP	C	C	T	rs145566650		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:120458868C>T	uc001eik.2	-	34	6733	c.6477G>A	c.(6475-6477)ACG>ACA	p.T2159T		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	2159	Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGAAACATACGTGTGAGGAG	0.522000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
ITGA10	8515	broad.mit.edu	37	1	145535840	145535840	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:145535840G>A	uc001eoa.2	+	16	2104	c.2028G>A	c.(2026-2028)CTG>CTA	p.L676L	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.L545L|ITGA10_uc009wiw.2_Silent_p.L533L|ITGA10_uc010oyw.1_Silent_p.L621L	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	676	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGTCTGTCTGACTGCAGCCC	0.557000												
CHD1L	9557	broad.mit.edu	37	1	146766109	146766109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:146766109G>A	uc001epm.3	+	22	2588	c.2525G>A	c.(2524-2526)CGT>CAT	p.R842H	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.R729H|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.R748H|CHD1L_uc010ozp.1_Missense_Mutation_p.R561H|CHD1L_uc001epo.3_Missense_Mutation_p.R638H|CHD1L_uc009wji.2_Missense_Mutation_p.R561H	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	842	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					CATCTTCCACGTATTGGACAT	0.378000												
PLEKHO1	51177	broad.mit.edu	37	1	150131356	150131356	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:150131356C>T	uc001ett.2	+	6	1146	c.868C>T	c.(868-870)CGG>TGG	p.R290W	PLEKHO1_uc001etr.2_Missense_Mutation_p.R118W|PLEKHO1_uc001ets.2_Missense_Mutation_p.R107W|PLEKHO1_uc001etu.2_Missense_Mutation_p.R118W	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	290	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCCAGCTGCGGGCTGAGGA	0.652000												
FLG	2312	broad.mit.edu	37	1	152275618	152275618	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:152275618G>T	uc001ezu.1	-	3	11780	c.11744C>A	c.(11743-11745)TCT>TAT	p.S3915Y		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3915	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)			TACAGGTGAAGACTGTACATG	0.498000									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152277049	152277049	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:152277049G>A	uc001ezu.1	-	3	10349	c.10313C>T	c.(10312-10314)CCG>CTG	p.P3438L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3438	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)			GCTTGACCCCGGGTGTCCACG	0.597000									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152277533	152277533	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:152277533G>A	uc001ezu.1	-	3	9865	c.9829C>T	c.(9829-9831)CGT>TGT	p.R3277C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3277	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)			TCTGCGTGACGAGTGCCTGAT	0.602000									Ichthyosis			
LCE1E	353135	broad.mit.edu	37	1	152759797	152759797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:152759797C>T	uc001fan.2	+	2	75	c.22C>T	c.(22-24)CAG>TAG	p.Q8*		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	8	Cys-rich.				keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGCCAGCAGCAGTGCCA	0.502000												
INTS3	65123	broad.mit.edu	37	1	153744815	153744815	+	Splice_Site	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:153744815G>A	uc009wom.2	+	28	2942	c.2721_splice	c.e28-1	p.S907_splice	INTS3_uc001fct.2_Splice_Site_p.S907_splice|INTS3_uc001fcu.2_Splice_Site_p.S599_splice|INTS3_uc001fcv.2_Splice_Site_p.S701_splice|INTS3_uc010peb.1_Splice_Site_p.S701_splice|INTS3_uc001fcw.2_Splice_Site_p.S420_splice|INTS3_uc010pec.1_Splice_Site_p.S420_splice|INTS3_uc001fcy.2_Splice_Site_p.S204_splice|INTS3_uc001fcx.2_Splice_Site_p.S204_splice	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3						DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTCCTGCACAGCCTGAGGAGC	0.602000											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PKLR	5313	broad.mit.edu	37	1	155271181	155271181	+	Silent	SNP	C	C	T	rs139697646	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:155271181C>T	uc001fkb.3	-	1	45	c.6G>A	c.(4-6)TCG>TCA	p.S2S	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_5'Flank|PKLR_uc010pga.1_5'Flank	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	2					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)	TCTCCTGGATCGACATGCTTT	0.512000												
IQGAP3	128239	broad.mit.edu	37	1	156514000	156514000	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:156514000G>A	uc001fpf.2	-	21	2479	c.2404C>T	c.(2404-2406)CGG>TGG	p.R802W		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	802	IQ 3.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCCACATCCGGGCCCAGGCC	0.572000												
NTRK1	4914	broad.mit.edu	37	1	156843499	156843499	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:156843499C>T	uc001fqh.1	+	8	981	c.925C>T	c.(925-927)CCG>TCG	p.P309S	NTRK1_uc001fqf.1_Missense_Mutation_p.P279S|NTRK1_uc009wsi.1_Missense_Mutation_p.P14S|NTRK1_uc001fqi.1_Missense_Mutation_p.P309S|NTRK1_uc009wsk.1_Missense_Mutation_p.P309S	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	309	Ig-like C2-type 2.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGATGGGCAGCCGGCACCGTC	0.617000			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)		
ARHGEF11	9826	broad.mit.edu	37	1	156916459	156916459	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:156916459T>C	uc001fqo.2	-	27	3609	c.2569A>G	c.(2569-2571)ATG>GTG	p.M857V	ARHGEF11_uc010phu.1_Missense_Mutation_p.M273V|ARHGEF11_uc001fqn.2_Missense_Mutation_p.M897V	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	857	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCACCTGCATGAAGAGCTGG	0.522000												
CD1C	911	broad.mit.edu	37	1	158262112	158262112	+	Silent	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:158262112C>A	uc001fru.2	+	3	859	c.567C>A	c.(565-567)CTC>CTA	p.L189L	CD1C_uc001frv.2_5'UTR	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	189	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					CCCGATTTCTCTTGGGTCTCC	0.453000												
SPTA1	6708	broad.mit.edu	37	1	158622284	158622284	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:158622284C>T	uc001fst.1	-	23	3547	c.3348G>A	c.(3346-3348)CTG>CTA	p.L1116L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1116	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ACTTTTTCTGCAGCTCCCAAA	0.403000												
OR6K3	391114	broad.mit.edu	37	1	158687412	158687412	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:158687412G>T	uc010pip.1	-	1	542	c.542C>A	c.(541-543)ACA>AAA	p.T181K		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					GAAAGGCAGTGTGGAAATCAT	0.507000												
ARHGAP30	257106	broad.mit.edu	37	1	161023081	161023081	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:161023081C>T	uc001fxl.2	-	6	977	c.631G>A	c.(631-633)GTG>ATG	p.V211M	ARHGAP30_uc001fxk.2_Missense_Mutation_p.V211M|ARHGAP30_uc001fxm.2_Missense_Mutation_p.V57M|ARHGAP30_uc009wtx.2_Translation_Start_Site|ARHGAP30_uc001fxn.1_Missense_Mutation_p.V57M	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	211	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGCTGGTCCACGTGTGTGAGG	0.562000												
SLC9A11	284525	broad.mit.edu	37	1	173545816	173545816	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:173545816C>T	uc001giz.2	-	8	1309	c.886G>A	c.(886-888)GAA>AAA	p.E296K	SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	296					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						ATTACAAGTTCGATCTTCGGT	0.398000												
PAPPA2	60676	broad.mit.edu	37	1	176675551	176675551	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:176675551A>G	uc001gkz.2	+	10	4586	c.3422A>G	c.(3421-3423)AAG>AGG	p.K1141R	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1141					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GGCTGCTCCAAGGTGTGTGAG	0.413000												
FAM5B	57795	broad.mit.edu	37	1	177250079	177250079	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:177250079C>T	uc001glf.2	+	8	2079	c.1767C>T	c.(1765-1767)TAC>TAT	p.Y589Y	FAM5B_uc001glg.2_Silent_p.Y484Y	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	589						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TGGCCATCTACGTCAACCCCT	0.567000												
QSOX1	5768	broad.mit.edu	37	1	180155212	180155212	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:180155212G>A	uc001gnz.2	+	8	987	c.912G>A	c.(910-912)CTG>CTA	p.L304L	QSOX1_uc001gny.2_Silent_p.L304L|QSOX1_uc001goa.2_Silent_p.L304L	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	304					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						TGGCTGACCTGGAATCTGCAC	0.562000												
CACNA1E	777	broad.mit.edu	37	1	181702089	181702089	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:181702089G>A	uc001gow.2	+	20	3032	c.2867G>A	c.(2866-2868)GGG>GAG	p.G956E	CACNA1E_uc009wxs.2_Missense_Mutation_p.G844E|CACNA1E_uc001gox.1_Missense_Mutation_p.G182E|CACNA1E_uc009wxt.2_Missense_Mutation_p.G182E	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	956	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						CCCACTGAAGGGGAGAAGGAC	0.592000												
ZNF648	127665	broad.mit.edu	37	1	182026671	182026671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:182026671C>T	uc001goz.2	-	2	683	c.475G>A	c.(475-477)GCA>ACA	p.A159T		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCCAAGACTGCGTCCTGGTTT	0.537000												
LAMC1	3915	broad.mit.edu	37	1	183077451	183077451	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:183077451G>A	uc001gpy.3	+	3	1021	c.764G>A	c.(763-765)CGC>CAC	p.R255H		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	255	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTCTTAATCGCCTGAACACT	0.388000												
LAMC1	3915	broad.mit.edu	37	1	183083684	183083684	+	Missense_Mutation	SNP	G	G	A	rs150210600		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:183083684G>A	uc001gpy.3	+	5	1297	c.1040G>A	c.(1039-1041)CGA>CAA	p.R347Q		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	347	Laminin EGF-like 2.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCAATGGTCGATCCCAGGAA	0.468000												
FAM129A	116496	broad.mit.edu	37	1	184863256	184863256	+	Missense_Mutation	SNP	C	C	T	rs143246041		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:184863256C>T	uc001gra.2	-	3	465	c.271G>A	c.(271-273)GTT>ATT	p.V91I	FAM129A_uc009wyh.1_Missense_Mutation_p.V91I|FAM129A_uc009wyi.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	91					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						TTAACTACAACGTATCTCTCC	0.363000												
TPR	7175	broad.mit.edu	37	1	186296653	186296653	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:186296653A>G	uc001grv.2	-	40	6125	c.5828T>C	c.(5827-5829)GTC>GCC	p.V1943A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1943					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)		aATTACAATGACATCATCTCC	0.308000			T	NTRK1	papillary thyroid							
PDC	5132	broad.mit.edu	37	1	186413572	186413572	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:186413572G>A	uc001gsa.2	-	4	353	c.280C>T	c.(280-282)CGT>TGT	p.R94C	PDC_uc001grz.2_Missense_Mutation_p.R42C	NM_002597	NP_002588	P20941	PHOS_HUMAN	phosducin isoform a	94					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			skin(1)	1		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CACTGTCTACGGTATTTACGA	0.368000												
CFHR5	81494	broad.mit.edu	37	1	196971705	196971705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:196971705C>T	uc001gts.3	+	8	1369	c.1241C>T	c.(1240-1242)GCT>GTT	p.A414V		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	414	Sushi 7.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						GAAAAAGTAGCTGTTCTCTGT	0.388000												
CRB1	23418	broad.mit.edu	37	1	197404029	197404029	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:197404029G>A	uc001gtz.2	+	9	3171	c.3036G>A	c.(3034-3036)TTG>TTA	p.L1012L	CRB1_uc010poz.1_Silent_p.L988L|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.L900L|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Silent_p.L493L|CRB1_uc001gub.1_Silent_p.L661L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1012	Extracellular (Potential).|Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TCTTTCAATTGCAAAGTGGCA	0.383000												
LAD1	3898	broad.mit.edu	37	1	201352206	201352206	+	Missense_Mutation	SNP	C	C	T	rs115025356	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:201352206C>T	uc001gwm.2	-	7	1617	c.1382G>A	c.(1381-1383)CGG>CAG	p.R461Q		NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	461						basement membrane	structural molecule activity				0						CCTCACCTTCCGGCTGGAGGC	0.572000												
PPP1R12B	4660	broad.mit.edu	37	1	202385958	202385958	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:202385958A>T	uc001gya.1	+	2	479	c.335A>T	c.(334-336)GAG>GTG	p.E112V	PPP1R12B_uc001gxy.2_Missense_Mutation_p.E112V|PPP1R12B_uc009xad.1_5'UTR|PPP1R12B_uc009xae.1_Missense_Mutation_p.E112V|PPP1R12B_uc001gxz.1_Missense_Mutation_p.E112V	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	112	ANK 2.				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTTCTGGTGGAGAACAGAGCC	0.373000												
TMCC2	9911	broad.mit.edu	37	1	205238587	205238587	+	Silent	SNP	C	C	T	rs146274386		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:205238587C>T	uc001hbz.1	+	4	1701	c.1257C>T	c.(1255-1257)ACC>ACT	p.T419T	TMCC2_uc010prf.1_Silent_p.T341T|TMCC2_uc001hca.2_Silent_p.T194T|TMCC2_uc001hcb.1_Silent_p.T179T|TMCC2_uc001hcc.1_Silent_p.T40T|TMCC2_uc001hcd.2_Silent_p.T186T	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	419						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCACCCACACCGCCGTGGTGT	0.667000												
PIGR	5284	broad.mit.edu	37	1	207105105	207105105	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:207105105G>A	uc001hez.2	-	9	2235	c.2051C>T	c.(2050-2052)TCA>TTA	p.S684L	PIGR_uc009xbz.2_Missense_Mutation_p.S684L	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	684	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CTCGAAGTCTGACATGCTAAT	0.527000												
PIGR	5284	broad.mit.edu	37	1	207106471	207106471	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:207106471A>G	uc001hez.2	-	7	1930	c.1746T>C	c.(1744-1746)CCT>CCC	p.P582P	PIGR_uc009xbz.2_Silent_p.P582P	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	582	Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CCTTCTCATCAGGAGCAGCGT	0.537000												
KCNH1	3756	broad.mit.edu	37	1	210970965	210970965	+	Silent	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:210970965C>A	uc001hib.2	-	9	1970	c.1800G>T	c.(1798-1800)GTG>GTT	p.V600V	KCNH1_uc001hic.2_Silent_p.V573V	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	600	Cytoplasmic (Potential).|cNMP.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGGCACAGTGCACCGTCTGGA	0.612000												
INTS7	25896	broad.mit.edu	37	1	212194449	212194449	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:212194449T>G	uc001hiw.1	-	2	305	c.200A>C	c.(199-201)AAG>ACG	p.K67T	INTS7_uc009xdb.1_Missense_Mutation_p.K67T|INTS7_uc001hix.1_5'UTR|INTS7_uc001hiy.1_Missense_Mutation_p.K67T|INTS7_uc010pta.1_Missense_Mutation_p.K67T	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	67					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATCAGCTAACTTTAGGAATGC	0.348000												
FAM71A	149647	broad.mit.edu	37	1	212798363	212798363	+	Silent	SNP	C	C	T	rs141841205		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:212798363C>T	uc001hjk.2	+	1	548	c.144C>T	c.(142-144)AGC>AGT	p.S48S	uc010pth.1_Intron	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	48										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TATTTGAGAGCGACTTTATCC	0.507000												
RPS6KC1	26750	broad.mit.edu	37	1	213302993	213302993	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:213302993C>T	uc010ptr.1	+	6	755	c.596C>T	c.(595-597)TCG>TTG	p.S199L	RPS6KC1_uc001hkd.2_Missense_Mutation_p.S187L|RPS6KC1_uc010pts.1_Missense_Mutation_p.S18L|RPS6KC1_uc010ptt.1_Missense_Mutation_p.S18L|RPS6KC1_uc010ptu.1_Missense_Mutation_p.S18L|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.S18L	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	199					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATCTTTCTTCGGATTCTTCA	0.433000												
PTPN14	5784	broad.mit.edu	37	1	214557590	214557590	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:214557590C>T	uc001hkk.1	-	13	1879	c.1608G>A	c.(1606-1608)ACG>ACA	p.T536T	PTPN14_uc010pty.1_Silent_p.T437T	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	536					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGGTGCTCACCGTGTGCGAGA	0.572000												
CENPF	1063	broad.mit.edu	37	1	214815832	214815832	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:214815832T>C	uc001hkm.2	+	12	4325	c.4151T>C	c.(4150-4152)TTG>TCG	p.L1384S		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGGCTCCATTGGACGAGAGT	0.423000												
MIA3	375056	broad.mit.edu	37	1	222833602	222833602	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:222833602G>A	uc001hnl.2	+	24	5068	c.5059G>A	c.(5059-5061)GTG>ATG	p.V1687M	MIA3_uc001hnm.2_Missense_Mutation_p.V565M	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1687	Pro-rich.|Cytoplasmic (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		GGAGCCACCTGTGAGACCTCT	0.488000												
SUSD4	55061	broad.mit.edu	37	1	223465929	223465929	+	Silent	SNP	G	G	A	rs148470082		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:223465929G>A	uc001hnx.2	-	2	847	c.213C>T	c.(211-213)AGC>AGT	p.S71S	SUSD4_uc001hny.3_Silent_p.S71S|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Silent_p.S71S|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	71	Sushi 1.|Extracellular (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		AAACCCCTCCGCTGGGGGTCC	0.498000												
CABC1	56997	broad.mit.edu	37	1	227174287	227174287	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:227174287G>A	uc001hqm.1	+	20	5212	c.1793G>A	c.(1792-1794)CGT>CAT	p.R598H	CABC1_uc001hqn.1_Missense_Mutation_p.R598H|CABC1_uc009xeq.1_Missense_Mutation_p.R546H|CABC1_uc010pvq.1_Missense_Mutation_p.R319H|CABC1_uc010pvr.1_Missense_Mutation_p.R272H|CABC1_uc001hqo.1_Missense_Mutation_p.R319H|CABC1_uc009xer.1_Missense_Mutation_p.R114H	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	598					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				CTGAGGCACCGTCTCGTCCCC	0.602000												
ARF1	375	broad.mit.edu	37	1	228285303	228285303	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:228285303G>A	uc001hrr.2	+	4	499	c.271G>A	c.(271-273)GTG>ATG	p.V91M	ARF1_uc001hrs.2_Missense_Mutation_p.V91M|ARF1_uc001hrt.2_Intron|ARF1_uc009xev.2_Intron|ARF1_uc001hru.2_Missense_Mutation_p.V91M|ARF1_uc001hrv.2_Missense_Mutation_p.V91M|ARF1_uc001hrw.2_Missense_Mutation_p.V91M	NM_001024226	NP_001019397	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	91					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity				0		Prostate(94;0.0405)				CCTGATCTTCGTGGTGGACAG	0.622000												
ARF1	375	broad.mit.edu	37	1	228285355	228285355	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:228285355T>C	uc001hrr.2	+	4	551	c.323T>C	c.(322-324)ATG>ACG	p.M108T	ARF1_uc001hrs.2_Missense_Mutation_p.M108T|ARF1_uc001hrt.2_Intron|ARF1_uc009xev.2_Intron|ARF1_uc001hru.2_Missense_Mutation_p.M108T|ARF1_uc001hrv.2_Missense_Mutation_p.M108T|ARF1_uc001hrw.2_Missense_Mutation_p.M108T	NM_001024226	NP_001019397	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	108					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity				0		Prostate(94;0.0405)				GAGGAGCTCATGAGGATGCTG	0.627000												
OBSCN	84033	broad.mit.edu	37	1	228481116	228481116	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:228481116G>A	uc009xez.1	+	41	10974	c.10930G>A	c.(10930-10932)GTG>ATG	p.V3644M	OBSCN_uc001hsn.2_Missense_Mutation_p.V3644M|OBSCN_uc001hsq.1_Missense_Mutation_p.V900M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3644	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGCAACAGCCGTGCTGCGGTG	0.587000												
OBSCN	84033	broad.mit.edu	37	1	228506705	228506705	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:228506705G>A	uc009xez.1	+	54	14296	c.14252G>A	c.(14251-14253)CGT>CAT	p.R4751H	OBSCN_uc001hsn.2_Missense_Mutation_p.R4751H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4751					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CGCATGAGCCGTGAGCCCACG	0.672000												
OBSCN	84033	broad.mit.edu	37	1	228566376	228566376	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:228566376G>A	uc009xez.1	+	105	23831	c.23787G>A	c.(23785-23787)CCG>CCA	p.P7929P	OBSCN_uc001hsr.1_Silent_p.P2558P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7929					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGAGGGCCCGGCCTGTTCGC	0.716000												
HIST3H3	8290	broad.mit.edu	37	1	228613002	228613002	+	Missense_Mutation	SNP	G	G	A	rs147766330		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:228613002G>A	uc001hsx.1	-	1	25	c.25C>T	c.(25-27)CGC>TGC	p.R9C		NM_003493	NP_003484	Q16695	H31T_HUMAN	histone cluster 3, H3	9					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		Prostate(94;0.0724)				GTTGACTTGCGCGCAGTCTGC	0.642000												
RAB4A	5867	broad.mit.edu	37	1	229438688	229438688	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:229438688C>T	uc001hth.2	+	7	829	c.621C>T	c.(619-621)CGC>CGT	p.R207R	RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_RNA|SPHAR_uc001htk.3_5'Flank	NM_004578	NP_004569	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	202							GDP binding|GTP binding|GTPase activity			ovary(1)	1	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CACCGCGGCGCGCACAGGCCC	0.582000												
ACTA1	58	broad.mit.edu	37	1	229567811	229567811	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:229567811G>A	uc001htm.2	-	5	843	c.738C>T	c.(736-738)GAC>GAT	p.D246D		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	246					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGACCTGCCCGTCTGGCAGCT	0.602000												
TAF5L	27097	broad.mit.edu	37	1	229750217	229750217	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:229750217G>A	uc001htq.2	-	2	179	c.13C>T	c.(13-15)CGT>TGT	p.R5C	TAF5L_uc001htr.2_Missense_Mutation_p.R5C	NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	5					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCTCGGTACGCACTCGTTTC	0.562000												
URB2	9816	broad.mit.edu	37	1	229773794	229773794	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:229773794G>A	uc001hts.1	+	4	3570	c.3434G>A	c.(3433-3435)AGG>AAG	p.R1145K	URB2_uc009xfd.1_Missense_Mutation_p.R1145K	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1145						nucleolus				central_nervous_system(2)|ovary(1)	3						GGAAGCGACAGGACGCTGCTC	0.582000												
SLC35F3	148641	broad.mit.edu	37	1	234367374	234367374	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:234367374G>A	uc001hwa.1	+	2	516	c.288G>A	c.(286-288)GCG>GCA	p.A96A	SLC35F3_uc001hvy.1_Silent_p.A165A	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	96					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGTTCGACGCGCCCTTCACCC	0.582000												
NID1	4811	broad.mit.edu	37	1	236148772	236148772	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:236148772C>T	uc001hxo.2	-	15	3064	c.2962G>A	c.(2962-2964)GTG>ATG	p.V988M	NID1_uc009xgd.2_Missense_Mutation_p.V855M|NID1_uc009xgc.2_Missense_Mutation_p.V74M	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	988					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)	ATCTTGTCCACGCAGTCAAAG	0.428000												
RYR2	6262	broad.mit.edu	37	1	237656303	237656303	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:237656303G>A	uc001hyl.1	+	19	1997	c.1877G>A	c.(1876-1878)CGT>CAT	p.R626H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	626	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTGCAGTCCGTTCTAACCAG	0.403000												
RYR2	6262	broad.mit.edu	37	1	237947036	237947036	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:237947036C>T	uc001hyl.1	+	90	12144	c.12024C>T	c.(12022-12024)AAC>AAT	p.N4008N	RYR2_uc010pya.1_Silent_p.N423N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4008					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATCTTCCAACAACGTGGAGA	0.368000												
WDR64	128025	broad.mit.edu	37	1	241907814	241907814	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:241907814T>C	uc001hze.1	+	12	1767	c.1560T>C	c.(1558-1560)TAT>TAC	p.Y520Y	WDR64_uc001hzf.1_Silent_p.Y240Y			B1ANS9	WDR64_HUMAN	RecName: Full=WD repeat-containing protein 64;	520	WD 7.									skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CAGGAGCGTATAATGGTCAGA	0.438000												
ZNF695	57116	broad.mit.edu	37	1	247151469	247151469	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:247151469T>A	uc009xgu.2	-	4	493	c.348A>T	c.(346-348)AGA>AGT	p.R116S	ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.R116S|ZNF695_uc001iby.2_Intron|ZNF695_uc001icc.2_Missense_Mutation_p.R104S	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	116					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CAAGACAACATCTTTCATATC	0.398000												
DIP2C	22982	broad.mit.edu	37	10	373069	373069	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:373069C>T	uc001ifp.2	-	31	3891	c.3801G>A	c.(3799-3801)GCG>GCA	p.A1267A		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1267						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCCTCTCTTCCGCCACAACCA	0.617000												
PFKP	5214	broad.mit.edu	37	10	3155640	3155640	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:3155640G>A	uc001igp.2	+	13	1337	c.1301G>A	c.(1300-1302)CGC>CAC	p.R434H	PFKP_uc001igq.2_Missense_Mutation_p.R426H|PFKP_uc009xhr.2_Missense_Mutation_p.R396H|PFKP_uc009xhs.1_Missense_Mutation_p.R218H|PFKP_uc009xht.2_Missense_Mutation_p.R172H|PFKP_uc009xhu.2_5'UTR	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	434					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TCAGCTGTGCGCGTGGGCATT	0.612000												
SFMBT2	57713	broad.mit.edu	37	10	7290522	7290522	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:7290522C>T	uc009xio.1	-	8	1051	c.960G>A	c.(958-960)GCG>GCA	p.A320A	SFMBT2_uc001ijn.1_Silent_p.A320A|SFMBT2_uc010qay.1_Silent_p.A320A	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	320	MBT 3.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						TAGTCACCGACGCAGGAGAGA	0.493000												
MCM10	55388	broad.mit.edu	37	10	13217572	13217572	+	Missense_Mutation	SNP	C	C	T	rs150895215	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:13217572C>T	uc001ima.2	+	6	759	c.658C>T	c.(658-660)CGG>TGG	p.R220W	MCM10_uc001imb.2_Missense_Mutation_p.R219W|MCM10_uc001imc.2_Missense_Mutation_p.R219W	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	220					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						GACGATTTCTCGGAACAAACC	0.468000												
HSPA14	51182	broad.mit.edu	37	10	14881910	14881910	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:14881910C>T	uc001inf.2	+	2	205	c.64C>T	c.(64-66)CGG>TGG	p.R22W	CDNF_uc001inb.1_5'Flank|CDNF_uc010qbv.1_5'Flank|CDNF_uc001inc.1_5'Flank|HSPA14_uc001ind.2_5'UTR|HSPA14_uc001ine.2_Missense_Mutation_p.R22W|HSPA14_uc010qbw.1_Missense_Mutation_p.R22W	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14 isoform 1	22					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			ovary(2)|breast(2)|lung(1)	5						CTAGGATGGCCGGGCTGGTGT	0.448000												
CUBN	8029	broad.mit.edu	37	10	16948350	16948350	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:16948350G>A	uc001ioo.2	-	50	7816	c.7764C>T	c.(7762-7764)GAC>GAT	p.D2588D	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Translation_Start_Site	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2588	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCTGACTCCGTCATAGCCAG	0.408000												
KIAA1462	57608	broad.mit.edu	37	10	30318027	30318027	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:30318027C>T	uc001iux.2	-	2	1109	c.1050G>A	c.(1048-1050)CCG>CCA	p.P350P	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.P212P|KIAA1462_uc009xle.1_Silent_p.P350P	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	350	Pro-rich.									ovary(4)	4						GGATGTTCTGCGGGGGCGATC	0.597000												
PARD3	56288	broad.mit.edu	37	10	34573135	34573135	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:34573135G>A	uc010qej.1	-	21	3113	c.3113C>T	c.(3112-3114)ACG>ATG	p.T1038M	PARD3_uc010qek.1_Missense_Mutation_p.T1035M|PARD3_uc010qel.1_Intron|PARD3_uc010qem.1_Missense_Mutation_p.T1022M|PARD3_uc010qen.1_Missense_Mutation_p.T992M|PARD3_uc010qeo.1_Intron|PARD3_uc010qep.1_Missense_Mutation_p.T948M|PARD3_uc010qeq.1_Intron	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1038	Lys-rich.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				TATTTTACCCGTTTTCTCAAT	0.343000												
FZD8	8325	broad.mit.edu	37	10	35929386	35929386	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:35929386C>T	uc001iyz.1	-	1	977	c.972G>A	c.(970-972)TCG>TCA	p.S324S		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	324	Helical; Name=2; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						GGTAGCCCACCGACACGAAGA	0.488000												
C10orf10	11067	broad.mit.edu	37	10	45472904	45472904	+	Missense_Mutation	SNP	C	C	T	rs141296778		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:45472904C>T	uc001jbr.3	-	2	865	c.575G>A	c.(574-576)CGC>CAC	p.R192H	RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	192						mitochondrion					0						GGGGCGGGGGCGGTGGCGGGA	0.612000												
PPYR1	5540	broad.mit.edu	37	10	47087852	47087852	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:47087852G>A	uc001jee.2	+	3	1488	c.1069G>A	c.(1069-1071)GTA>ATA	p.V357I	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.V357I	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	357	Cytoplasmic (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						CCTGTCCACAGTACATACGGA	0.567000												
MAPK8	5599	broad.mit.edu	37	10	49632628	49632628	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:49632628C>T	uc009xnz.2	+	7	912	c.688C>T	c.(688-690)CAT>TAT	p.H230Y	MAPK8_uc001jgl.2_Missense_Mutation_p.H230Y|MAPK8_uc001jgm.2_Missense_Mutation_p.H230Y|MAPK8_uc001jgo.2_Missense_Mutation_p.H230Y|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.H230Y|MAPK8_uc010qgk.1_Missense_Mutation_p.H230Y|MAPK8_uc001jgp.2_Intron|MAPK8_uc001jgq.2_Intron	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	230	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AGGTACAGATCGTATCCTTAT	0.363000												
ERCC6	2074	broad.mit.edu	37	10	50736485	50736485	+	Silent	SNP	G	G	A	rs140876119		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:50736485G>A	uc001jhs.3	-	4	784	c.630C>T	c.(628-630)CAC>CAT	p.H210H	PGBD3_uc009xoe.2_Silent_p.H210H|PGBD3_uc001jhu.2_Silent_p.H210H	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	210					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						CCAGACTGGCGTGATCTAGTT	0.458000								Direct_reversal_of_damage|NER				
ANK3	288	broad.mit.edu	37	10	61941099	61941099	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:61941099G>A	uc001jky.2	-	18	2364	c.2172C>T	c.(2170-2172)GAC>GAT	p.D724D	ANK3_uc010qih.1_Silent_p.D707D|ANK3_uc001jkz.3_Silent_p.D718D|ANK3_uc001jlb.1_Silent_p.D253D|ANK3_uc001jlc.1_Silent_p.D385D	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	724	ANK 20.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTGTCTGGGCGTCCACATGAG	0.493000												
ANK3	288	broad.mit.edu	37	10	62021646	62021646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:62021646G>A	uc001jky.2	-	7	961	c.769C>T	c.(769-771)CGA>TGA	p.R257*	ANK3_uc010qih.1_Nonsense_Mutation_p.R240*|ANK3_uc001jkz.3_Nonsense_Mutation_p.R251*|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	257	ANK 6.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCAGCCGCTCGGTTTAACAGC	0.428000												
ARID5B	84159	broad.mit.edu	37	10	63852248	63852248	+	Missense_Mutation	SNP	C	C	G	rs145564601		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:63852248C>G	uc001jlt.1	+	10	3052	c.3026C>G	c.(3025-3027)GCG>GGG	p.A1009G		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1009					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					ATTGGGGCGGCGCGGCCGATC	0.572000												
ARID5B	84159	broad.mit.edu	37	10	63852392	63852392	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:63852392C>T	uc001jlt.1	+	10	3196	c.3170C>T	c.(3169-3171)GCG>GTG	p.A1057V		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1057					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					AGCAAAGCAGCGCACGGTGGG	0.612000												
KIAA1274	27143	broad.mit.edu	37	10	72324139	72324139	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:72324139C>T	uc001jrd.3	+	19	2563	c.2282C>T	c.(2281-2283)GCG>GTG	p.A761V	KIAA1274_uc001jre.3_Missense_Mutation_p.A52V	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	761										ovary(2)|central_nervous_system(1)	3						GCGAAAGAGGCGCAAGAAATG	0.617000												
CDH23	64072	broad.mit.edu	37	10	73453968	73453968	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:73453968C>T	uc001jrx.3	+	20	2618	c.2241C>T	c.(2239-2241)CGC>CGT	p.R747R	CDH23_uc001jry.2_Silent_p.R363R|CDH23_uc001jrz.2_Silent_p.R363R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	747	Cadherin 7.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						TCATCGTTCGCGCAGTGGACG	0.627000												
DLG5	9231	broad.mit.edu	37	10	79576781	79576781	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:79576781G>A	uc001jzk.2	-	19	3928	c.3858C>T	c.(3856-3858)GTC>GTT	p.V1286V	DLG5_uc001jzi.2_Silent_p.V41V|DLG5_uc001jzj.2_Silent_p.V701V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.V890V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1286					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CGGAGCCCACGACACTCCGCG	0.493000												
POLR3A	11128	broad.mit.edu	37	10	79752975	79752975	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:79752975T>C	uc001jzn.2	-	20	2861	c.2767A>G	c.(2767-2769)AGG>GGG	p.R923G		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	923					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)			TCCAGAACCCTTTTAAACTCC	0.398000												
MAT1A	4143	broad.mit.edu	37	10	82033576	82033576	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:82033576G>A	uc001kbw.2	-	9	1404	c.1149C>T	c.(1147-1149)AGC>AGT	p.S383S		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	383					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ATGGGAACTCGCTTCTTCCGA	0.557000												
LDB3	11155	broad.mit.edu	37	10	88439846	88439846	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:88439846C>T	uc001kdv.2	+	3	276	c.253C>T	c.(253-255)CGT>TGT	p.R85C	LDB3_uc010qml.1_Missense_Mutation_p.R85C|LDB3_uc010qmm.1_Missense_Mutation_p.R85C|LDB3_uc001kdu.2_Missense_Mutation_p.R85C|LDB3_uc009xsz.2_5'UTR|LDB3_uc001kdr.2_Missense_Mutation_p.R85C|LDB3_uc009xsy.2_Missense_Mutation_p.R85C|LDB3_uc001kds.2_Missense_Mutation_p.R85C|LDB3_uc001kdt.2_RNA	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	85						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1						CAGATCAAAGCGTCCCATTCC	0.607000												
LIPA	3988	broad.mit.edu	37	10	91005477	91005477	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:91005477C>T	uc001kga.3	-	3	353	c.185G>A	c.(184-186)TGC>TAC	p.C62Y	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|LIPA_uc009xtq.2_Missense_Mutation_p.C62Y	NM_000235	NP_000226	P38571	LICH_HUMAN	lipase A precursor	62					lipid catabolic process	lysosome	lipase activity|sterol esterase activity				0		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TCGGTTAAGGCACAGAATATA	0.393000												
IFIT1B	439996	broad.mit.edu	37	10	91143252	91143252	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:91143252T>C	uc001kgh.2	+	2	262	c.182T>C	c.(181-183)GTG>GCG	p.V61A	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	61	TPR 1.|Potential.						binding				0						CTAGCCTATGTGAAACACCTG	0.428000												
HTR7	3363	broad.mit.edu	37	10	92508866	92508866	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:92508866G>T	uc001kha.2	-	2	1268	c.1025C>A	c.(1024-1026)CCA>CAA	p.P342Q	HTR7_uc001kgz.2_Missense_Mutation_p.P342Q|HTR7_uc001khb.2_Missense_Mutation_p.P342Q	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	342	Helical; Name=6; (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GAGGAAAAATGGCAGCCAGCA	0.537000												
PPP1R3C	5507	broad.mit.edu	37	10	93389996	93389996	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:93389996A>T	uc001kho.2	-	2	774	c.642T>A	c.(640-642)GAT>GAA	p.D214E		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	214	Interaction with EPM2A.|CBM21.						protein serine/threonine phosphatase activity			breast(1)	1		Colorectal(252;0.235)				ATGAGAAGGTATCACTATCTG	0.403000												
MARCH5	54708	broad.mit.edu	37	10	94109437	94109437	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:94109437G>T	uc001khx.1	+	5	895	c.563G>T	c.(562-564)TGT>TTT	p.C188F	MARCH5_uc010qno.1_Missense_Mutation_p.C84F	NM_017824	NP_060294	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	188					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1						GGGATAGGTTGTCCTGTTCCT	0.413000												
TBC1D12	23232	broad.mit.edu	37	10	96259980	96259980	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:96259980G>A	uc001kjr.2	+	6	1600	c.1415G>A	c.(1414-1416)CGT>CAT	p.R472H		NM_015188	NP_056003	O60347	TBC12_HUMAN	TBC1 domain family, member 12	472						intracellular	Rab GTPase activator activity				0		Colorectal(252;0.0429)				AATTCTAGGCGTAGTACAAGA	0.393000												
HELLS	3070	broad.mit.edu	37	10	96333921	96333921	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:96333921G>A	uc001kjt.2	+	8	787	c.682G>A	c.(682-684)GTA>ATA	p.V228I	HELLS_uc001kjs.2_Missense_Mutation_p.V212I|HELLS_uc009xul.2_Missense_Mutation_p.V228I|HELLS_uc009xum.2_Missense_Mutation_p.V228I|HELLS_uc009xun.2_Missense_Mutation_p.V104I|HELLS_uc009xuo.2_Missense_Mutation_p.V228I|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.V90I|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	228					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		ATGGTACCAAGTAGAAGGCAT	0.388000												
CYP2C19	1557	broad.mit.edu	37	10	96535238	96535238	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:96535238T>C	uc010qnz.1	+	3	423	c.423T>C	c.(421-423)ATT>ATC	p.I141I	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Silent_p.I119I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	141					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGAGGAGCATTGAGGACCGTG	0.507000												
SLIT1	6585	broad.mit.edu	37	10	98823348	98823348	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:98823348G>A	uc001kmw.2	-	8	909	c.657C>T	c.(655-657)TGC>TGT	p.C219C	SLIT1_uc009xvh.1_Silent_p.C219C	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	219	LRRCT 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTGGCAGTCGCAAAACAGGT	0.642000												
CRTAC1	55118	broad.mit.edu	37	10	99677361	99677361	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:99677361C>T	uc001kou.1	-	5	967	c.611G>A	c.(610-612)GGC>GAC	p.G204D	CRTAC1_uc001kov.2_Missense_Mutation_p.G193D|CRTAC1_uc001kot.1_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	204						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGCATCAGGGCCCACATTACC	0.572000												
LBX1	10660	broad.mit.edu	37	10	102988431	102988431	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:102988431G>A	uc001ksx.2	-	1	287	c.142C>T	c.(142-144)CGG>TGG	p.R48W	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	48				LTPFSIEDILNKPSVRRSYSLCGAAHLLAAADKHAQGGLP -> YAVQHRGHPQQAVRAEKLLAAWGGAPAGRRGQARAGRL A (in Ref. 1; CAA62342).	muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TAACTTCTCCGCACAGACGGC	0.711000												
GBF1	8729	broad.mit.edu	37	10	104018769	104018769	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:104018769G>A	uc001kux.1	+	2	314	c.74G>A	c.(73-75)CGA>CAA	p.R25Q	GBF1_uc001kuw.2_Missense_Mutation_p.R25Q|GBF1_uc001kuy.1_Missense_Mutation_p.R25Q|GBF1_uc001kuz.1_Missense_Mutation_p.R25Q	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	25					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CGAAATGCCCGATGGAGCACC	0.413000												
NT5C2	22978	broad.mit.edu	37	10	104934693	104934693	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:104934693C>T	uc001kwo.2	-	3	209	c.23G>A	c.(22-24)CGG>CAG	p.R8Q	NT5C2_uc001kwq.2_Missense_Mutation_p.R8Q|NT5C2_uc001kwp.2_Intron	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	8					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ATTCTGTAACCGATCACTCCA	0.338000												
PDCD11	22984	broad.mit.edu	37	10	105178356	105178356	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:105178356C>T	uc001kwy.1	+	15	2158	c.2071C>T	c.(2071-2073)CGA>TGA	p.R691*		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	691	S1 motif 7.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CATCCTTCACCGAGTCCTGTG	0.567000												
COL17A1	1308	broad.mit.edu	37	10	105816869	105816869	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:105816869G>A	uc001kxr.2	-	17	1498	c.1329C>T	c.(1327-1329)GGC>GGT	p.G443G	COL17A1_uc010qqv.1_Silent_p.G427G	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	443	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		cgccgccagcgccaccaacac	0.463000												
ABLIM1	3983	broad.mit.edu	37	10	116232891	116232891	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:116232891C>T	uc010qsg.1	-	10	1219	c.1120G>A	c.(1120-1122)GCA>ACA	p.A374T	ABLIM1_uc010qsh.1_Missense_Mutation_p.A342T|ABLIM1_uc010qsi.1_Missense_Mutation_p.A314T|ABLIM1_uc010qsk.1_Missense_Mutation_p.A298T|ABLIM1_uc009xyp.2_Missense_Mutation_p.A336T|ABLIM1_uc010qsf.1_Missense_Mutation_p.A86T|ABLIM1_uc009xyn.2_Missense_Mutation_p.A25T|ABLIM1_uc010qsj.1_Missense_Mutation_p.A51T|ABLIM1_uc009xyo.2_Missense_Mutation_p.A222T	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	374					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TCTACTTTTGCCTGGCAAAGT	0.393000												
GFRA1	2674	broad.mit.edu	37	10	118030416	118030416	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:118030416G>A	uc001lcj.2	-	3	950	c.252C>T	c.(250-252)CTC>CTT	p.L84L	GFRA1_uc001lci.2_Silent_p.L84L|GFRA1_uc009xyr.2_Silent_p.L84L	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	84	1.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGCAGTTGTAGAGCGACTTCT	0.612000												
PNLIP	5406	broad.mit.edu	37	10	118313341	118313341	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:118313341C>T	uc001lcm.2	+	6	605	c.562C>T	c.(562-564)CGC>TGC	p.R188C		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	188					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)	GACCATTGGACGCATCACAGG	0.373000												
BAG3	9531	broad.mit.edu	37	10	121429560	121429560	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:121429560G>A	uc001lem.2	+	2	684	c.378G>A	c.(376-378)GCG>GCA	p.A126A	BAG3_uc001lel.2_Silent_p.A126A	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	126	WW 2.				anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GAACTGAGGCGGCAGCAGCGG	0.617000												
ACADSB	36	broad.mit.edu	37	10	124810661	124810661	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:124810661T>C	uc001lhb.2	+	9	1204	c.1087T>C	c.(1087-1089)TTC>CTC	p.F363L	ACADSB_uc010qub.1_Missense_Mutation_p.F261L	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	363					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TGGAAAGCCATTCATAAAAGA	0.378000												
HMX2	3167	broad.mit.edu	37	10	124909353	124909353	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:124909353G>A	uc001lhc.1	+	2	793	c.536G>A	c.(535-537)CGC>CAC	p.R179H		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	H6 family homeobox 2	179	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGCTCGGAGCGCGCCTGCCTC	0.637000												
DOCK1	1793	broad.mit.edu	37	10	128851016	128851016	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:128851016A>C	uc001ljt.2	+	22	2274	c.2210A>C	c.(2209-2211)AAA>ACA	p.K737T	DOCK1_uc010qun.1_Missense_Mutation_p.K758T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	737					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGCTGTACAAAGCCATGAAA	0.488000												
PTPRE	5791	broad.mit.edu	37	10	129845712	129845712	+	Silent	SNP	G	G	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:129845712G>C	uc001lkb.2	+	4	447	c.168G>C	c.(166-168)CTG>CTC	p.L56L	PTPRE_uc009yat.2_Silent_p.L67L|PTPRE_uc010qup.1_RNA|PTPRE_uc009yau.2_Silent_p.L56L|PTPRE_uc001lkc.1_RNA|PTPRE_uc001lkd.2_5'Flank|PTPRE_uc010quq.1_5'Flank	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	56	Helical; (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGCCGCTGCTGCTCCTCCTCC	0.642000												
DPYSL4	10570	broad.mit.edu	37	10	134004293	134004293	+	Missense_Mutation	SNP	G	G	A	rs149476256		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:134004293G>A	uc009ybb.2	+	2	236	c.82G>A	c.(82-84)GAC>AAC	p.D28N		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	28					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGTGAATGACGACCAGTCCTT	0.463000												
KNDC1	85442	broad.mit.edu	37	10	134999950	134999950	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:134999950G>A	uc001llz.1	+	6	1099	c.1098G>A	c.(1096-1098)GAG>GAA	p.E366E	KNDC1_uc001lma.1_Silent_p.E301E	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	366					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGTGGCCGGAGCAGGAGCCGG	0.627000												
C11orf35	256329	broad.mit.edu	37	11	558939	558939	+	Silent	SNP	G	G	A	rs114586011	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:558939G>A	uc001lpx.2	-	2	138	c.75C>T	c.(73-75)GGC>GGT	p.G25G	uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank|RASSF7_uc001lqc.2_5'Flank|RASSF7_uc001lqd.2_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	hypothetical protein LOC256329	25										pancreas(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAGGTGCGCCTGCTGGAG	0.667000												
PHRF1	57661	broad.mit.edu	37	11	609248	609248	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:609248C>T	uc001lqe.2	+	14	3923	c.3792C>T	c.(3790-3792)TCC>TCT	p.S1264S	PHRF1_uc010qwc.1_Silent_p.S1263S|PHRF1_uc010qwd.1_Silent_p.S1262S|PHRF1_uc010qwe.1_Silent_p.S1260S|PHRF1_uc009ybz.1_Silent_p.S1054S|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1264							RNA polymerase binding|zinc ion binding				0						ATGGCGACTCCGTGGAGGCCG	0.607000												
AP2A2	161	broad.mit.edu	37	11	993321	993321	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:993321A>G	uc001lss.2	+	12	1671	c.1490A>G	c.(1489-1491)AAA>AGA	p.K497R	AP2A2_uc001lst.1_Missense_Mutation_p.K498R|AP2A2_uc009yco.1_RNA|AP2A2_uc009ycq.1_Missense_Mutation_p.K88R	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	497					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCTGGTCAAAGTGGGCGGC	0.627000												
MUC6	4588	broad.mit.edu	37	11	1018685	1018685	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:1018685T>C	uc001lsw.2	-	31	4167	c.4116A>G	c.(4114-4116)CCA>CCG	p.P1372P		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1372	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGGGTGGTTGGGCCTGTGG	0.582000												
MUC5B	727897	broad.mit.edu	37	11	1250991	1250991	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:1250991C>T	uc009ycr.1	+	26	3277	c.3151C>T	c.(3151-3153)CGC>TGC	p.R1051C	MUC5B_uc009yct.1_Missense_Mutation_p.R392C|MUC5B_uc001ltb.2_Missense_Mutation_p.R395C|MUC5B_uc001lta.2_Missense_Mutation_p.R60C	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	392				RT -> TR (in Ref. 2; AAC67545).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACGGCGGCCGCACCTACAG	0.697000												
MRGPRE	116534	broad.mit.edu	37	11	3249826	3249826	+	Silent	SNP	C	C	T	rs34568544		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:3249826C>T	uc001lxq.3	-	2	511	c.201G>A	c.(199-201)GCG>GCA	p.A67A		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	67	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGATGAGATCCGCGCAGGCCA	0.642000												
ZNF195	7748	broad.mit.edu	37	11	3392215	3392215	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:3392215G>A	uc001lxt.2	-	3	394	c.216C>T	c.(214-216)GAC>GAT	p.D72D	ZNF195_uc001lxv.2_Silent_p.D72D|ZNF195_uc001lxs.2_Silent_p.D72D|ZNF195_uc010qxr.1_Silent_p.D76D|ZNF195_uc009ydz.2_Silent_p.D76D|ZNF195_uc001lxu.2_Silent_p.D76D	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTGGATGTCCGTCTGCTGCCT	0.522000												
OR56A3	390083	broad.mit.edu	37	11	5969078	5969078	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:5969078G>A	uc010qzt.1	+	1	502	c.502G>A	c.(502-504)GCA>ACA	p.A168T		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCTTTCAGCACAACTCCG	0.433000												
TRIM3	10612	broad.mit.edu	37	11	6477741	6477741	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:6477741G>A	uc001mdh.2	-	7	1602	c.1215C>T	c.(1213-1215)TAC>TAT	p.Y405Y	TRIM3_uc001mdi.2_Silent_p.Y405Y|TRIM3_uc010raj.1_Silent_p.Y286Y|TRIM3_uc009yfd.2_Silent_p.Y405Y|TRIM3_uc010rak.1_Silent_p.Y405Y|TRIM3_uc001mdj.2_Silent_p.Y286Y	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	405	Filamin.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCTGTCCGTAGAGCAGCA	0.667000												
DNHD1	144132	broad.mit.edu	37	11	6532612	6532612	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:6532612C>T	uc001mdw.3	+	7	1909	c.1345C>T	c.(1345-1347)CGG>TGG	p.R449W	DNHD1_uc001mdp.2_Missense_Mutation_p.R449W|DNHD1_uc001mdq.2_Missense_Mutation_p.R138W	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	449					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TAAGGCTCTACGGCTGCTCCA	0.547000												
TUB	7275	broad.mit.edu	37	11	8122081	8122081	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:8122081G>A	uc001mga.2	+	10	1297	c.1148G>A	c.(1147-1149)CGG>CAG	p.R383Q	TUB_uc010rbk.1_Missense_Mutation_p.R389Q|TUB_uc001mfy.2_Missense_Mutation_p.R438Q	NM_177972	NP_813977	P50607	TUB_HUMAN	tubby isoform b	383					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AAGGGGCCTCGGAAGATGAGC	0.567000												
TUB	7275	broad.mit.edu	37	11	8123105	8123105	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:8123105G>A	uc001mga.2	+	12	1609	c.1460G>A	c.(1459-1461)TGT>TAT	p.C487Y	TUB_uc010rbk.1_Missense_Mutation_p.C493Y|TUB_uc001mfy.2_Missense_Mutation_p.C542Y	NM_177972	NP_813977	P50607	TUB_HUMAN	tubby isoform b	487					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TACCCGCTGTGTGCACTGCAG	0.597000												
NRIP3	56675	broad.mit.edu	37	11	9007341	9007341	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:9007341C>T	uc001mhg.2	-	4	593	c.479G>A	c.(478-480)CGG>CAG	p.R160Q	NRIP3_uc010rbu.1_Intron	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	160					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		TTTGAGATGCCGGGGTAGAGA	0.512000												
SBF2	81846	broad.mit.edu	37	11	10050062	10050062	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:10050062T>C	uc001mib.2	-	6	694	c.556A>G	c.(556-558)ACT>GCT	p.T186A	SBF2_uc001mif.3_5'UTR|SBF2_uc001mij.2_RNA	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	186	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGTAAAGGAGTCTGGATCAAC	0.423000												
GALNTL4	374378	broad.mit.edu	37	11	11470334	11470334	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:11470334G>A	uc001mjo.2	-	2	806	c.385C>T	c.(385-387)CGC>TGC	p.R129C		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	129	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		AGGGGCAGGCGGTCGCTGAGG	0.657000												
MICAL2	9645	broad.mit.edu	37	11	12225908	12225908	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:12225908G>A	uc001mjz.2	+	4	664	c.376G>A	c.(376-378)GTG>ATG	p.V126M	MICAL2_uc010rch.1_Missense_Mutation_p.V126M|MICAL2_uc001mjy.2_Missense_Mutation_p.V126M|MICAL2_uc001mka.2_Missense_Mutation_p.V126M|MICAL2_uc010rci.1_Missense_Mutation_p.V126M|MICAL2_uc001mkb.2_Missense_Mutation_p.V126M|MICAL2_uc001mkc.2_Missense_Mutation_p.V126M	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	126						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		CCGGAACAACGTGCTACACCT	0.567000												
MRGPRX2	117194	broad.mit.edu	37	11	19077199	19077199	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:19077199T>C	uc001mph.2	-	2	839	c.751A>G	c.(751-753)AAG>GAG	p.K251E		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	251	Extracellular (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						TCAGAATCCTTCCAGATCCAT	0.478000												
WT1	7490	broad.mit.edu	37	11	32450131	32450131	+	Silent	SNP	G	G	A	rs9332974		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:32450131G>A	uc001mtn.1	-	2	877	c.681C>T	c.(679-681)AGC>AGT	p.S227S	WT1_uc001mtl.1_Silent_p.S15S|WT1_uc001mtm.1_Silent_p.S15S|WT1_uc001mto.1_Silent_p.S227S|WT1_uc001mtp.1_Silent_p.S227S|WT1_uc001mtq.1_Silent_p.S227S|WT1_uc009yjs.1_RNA	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	159					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGTGACCGTAGCTGGGCGTCC	0.652000			D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation			
DEPDC7	91614	broad.mit.edu	37	11	33047274	33047274	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:33047274C>T	uc001mub.2	+	2	235	c.143C>T	c.(142-144)ACA>ATA	p.T48I	DEPDC7_uc010reg.1_Missense_Mutation_p.T48I|DEPDC7_uc010reh.1_Missense_Mutation_p.T48I|DEPDC7_uc001muc.2_Missense_Mutation_p.T39I	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	48	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						ACTCTTCAAACACAAGTGGAA	0.408000												
HIPK3	10114	broad.mit.edu	37	11	33308378	33308378	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:33308378G>A	uc001mul.1	+	2	688	c.418G>A	c.(418-420)GCA>ACA	p.A140T	HIPK3_uc001mum.1_Missense_Mutation_p.A140T|HIPK3_uc009yjv.1_Missense_Mutation_p.A140T	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	140					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TCATAGCAGCGCAATGCAGAT	0.478000												
PAMR1	25891	broad.mit.edu	37	11	35456181	35456181	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:35456181G>A	uc001mwg.2	-	10	1548	c.1505C>T	c.(1504-1506)GCT>GTT	p.A502V	PAMR1_uc001mwf.2_Missense_Mutation_p.A519V|PAMR1_uc010rew.1_Missense_Mutation_p.A391V|PAMR1_uc010rex.1_Missense_Mutation_p.A462V	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	502	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						ACAGTGGGCAGCCACCACCAC	0.572000												
RAG1	5896	broad.mit.edu	37	11	36596082	36596082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:36596082C>T	uc001mwu.3	+	2	1352	c.1228C>T	c.(1228-1230)CGG>TGG	p.R410W	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	410	NBD.		R -> Q (in OS/T(-)B(-)NK(+) SCID; atypical).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				TCAGAAGCACCGGCTGAGGGA	0.517000									Familial_Hemophagocytic_Lymphohistiocytosis			
LRRC4C	57689	broad.mit.edu	37	11	40137608	40137608	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:40137608G>A	uc001mxa.1	-	2	2199	c.235C>T	c.(235-237)CGG>TGG	p.R79W	LRRC4C_uc001mxc.1_Missense_Mutation_p.R75W|LRRC4C_uc001mxd.1_Missense_Mutation_p.R75W|LRRC4C_uc001mxb.1_Missense_Mutation_p.R75W	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	79	LRR 1.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTCAGCAGCCGTGTGTTGGTG	0.493000												
SYT13	57586	broad.mit.edu	37	11	45273978	45273978	+	Silent	SNP	T	T	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:45273978T>G	uc001myq.2	-	4	966	c.840A>C	c.(838-840)TCA>TCC	p.S280S	SYT13_uc009yku.1_Silent_p.S136S	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	280	Cytoplasmic (Potential).					transport vesicle				ovary(1)	1						CTACCTTCGCTGAAGTCTTCA	0.622000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PEX16	9409	broad.mit.edu	37	11	45935724	45935724	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:45935724G>A	uc001nbu.2	-	8	1037	c.725C>T	c.(724-726)TCG>TTG	p.S242L	PEX16_uc001nbt.2_Missense_Mutation_p.S242L	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	242	Interaction with PEX19.|Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		GGGTTTCCACGACCTCTGACC	0.622000												
C11orf49	79096	broad.mit.edu	37	11	47183174	47183174	+	Silent	SNP	C	C	T	rs75415432	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:47183174C>T	uc001ndp.2	+	9	1087	c.981C>T	c.(979-981)GAC>GAT	p.D327D	C11orf49_uc001nds.2_Intron|C11orf49_uc001ndq.2_3'UTR|C11orf49_uc001ndr.2_Silent_p.D333D|C11orf49_uc010rgx.1_Silent_p.D230D|C11orf49_uc010rgy.1_Silent_p.D318D|C11orf49_uc010rgz.1_Silent_p.D243D	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN	hypothetical protein LOC79096 isoform 3	327											0						AAGAGACAGACGAGTCGGAGA	0.627000											OREG0020950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ACP2	53	broad.mit.edu	37	11	47267247	47267247	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:47267247T>C	uc001nei.2	-	4	553	c.436A>G	c.(436-438)ATC>GTC	p.I146V	ACP2_uc010rhe.1_Missense_Mutation_p.I118V|ACP2_uc009ylj.2_Missense_Mutation_p.I74V|ACP2_uc010rhf.1_Missense_Mutation_p.I114V|ACP2_uc010rhg.1_Missense_Mutation_p.I146V|ACP2_uc010rhh.1_5'UTR|ACP2_uc010rhi.1_5'UTR|ACP2_uc009ylk.2_Missense_Mutation_p.I146V|ACP2_uc010rhj.1_Missense_Mutation_p.I146V|NR1H3_uc009yll.1_5'Flank|NR1H3_uc010rhk.1_5'Flank	NM_001610	NP_001601	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal isoform 1	146	Lumenal (Potential).					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			ovary(1)	1						TCCTCAGTGATGGGCACAGTG	0.627000												
FNBP4	23360	broad.mit.edu	37	11	47765532	47765532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:47765532G>A	uc009ylv.2	-	8	1582	c.1429C>T	c.(1429-1431)CGA>TGA	p.R477*	FNBP4_uc001ngj.2_Nonsense_Mutation_p.R384*|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	477										ovary(1)	1						GGAGTATCTCGTCCAGTTTTA	0.383000												
OR5W2	390148	broad.mit.edu	37	11	55681565	55681565	+	Missense_Mutation	SNP	C	C	A	rs148084259		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:55681565C>A	uc010rir.1	-	1	494	c.494G>T	c.(493-495)CGC>CTC	p.R165L		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GAAGCATAGGCGGAAGGCCAG	0.428000												
OR4D6	219983	broad.mit.edu	37	11	59224664	59224664	+	Silent	SNP	C	C	T	rs149619824		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:59224664C>T	uc010rku.1	+	1	231	c.231C>T	c.(229-231)ACC>ACT	p.T77T		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CATCTATCACCGTCCCCAAGT	0.468000												
TMEM132A	54972	broad.mit.edu	37	11	60702844	60702844	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:60702844C>T	uc001nqj.2	+	10	2150	c.1957C>T	c.(1957-1959)CGG>TGG	p.R653W	TMEM132A_uc001nqi.2_Missense_Mutation_p.R654W|TMEM132A_uc001nqm.2_5'UTR	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	653	Binds to HSPA5/GRP78 (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GACCTTGAGCCGGGGCACTGC	0.667000												
CD5	921	broad.mit.edu	37	11	60885784	60885784	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:60885784T>C	uc009ynk.2	+	3	335	c.232T>C	c.(232-234)TCA>CCA	p.S78P		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	78	Extracellular (Potential).|SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAGTCAAGCGTCAAAAGTCTG	0.597000												
DDB1	1642	broad.mit.edu	37	11	61094323	61094323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:61094323G>A	uc001nrc.3	-	5	818	c.592C>T	c.(592-594)CGA>TGA	p.R198*	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Nonsense_Mutation_p.R198*|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Nonsense_Mutation_p.R198*|DDB1_uc009ynl.1_Nonsense_Mutation_p.R85*	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	198	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						TCCTTTTCTCGGAGAGACACC	0.517000								NER				
DAGLA	747	broad.mit.edu	37	11	61504756	61504756	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:61504756C>T	uc001nsa.2	+	14	1585	c.1474C>T	c.(1474-1476)CTC>TTC	p.L492F		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	492	Cytoplasmic (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)		GTATCCGACCCTCAAGTGCTT	0.647000												
DAGLA	747	broad.mit.edu	37	11	61511578	61511578	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:61511578T>C	uc001nsa.2	+	20	2857	c.2746T>C	c.(2746-2748)TTC>CTC	p.F916L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	916	Cytoplasmic (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)		ATTCGCCGAGTTCATCGACAG	0.667000												
LRRN4CL	221091	broad.mit.edu	37	11	62455946	62455946	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:62455946G>A	uc001nun.2	-	2	342	c.35C>T	c.(34-36)GCC>GTC	p.A12V		NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like precursor	12						integral to membrane					0						GAAGGTCACGGCCAGGAGCCA	0.597000												
HNRNPUL2	221092	broad.mit.edu	37	11	62483395	62483395	+	Silent	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:62483395G>T	uc001nuw.2	-	12	2189	c.1996C>A	c.(1996-1998)CGA>AGA	p.R666R	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	666					cell killing	nucleus	ATP binding|nucleic acid binding				0						TCGTAGCCTCGGCGCTGCCCG	0.612000												
ZBTB3	79842	broad.mit.edu	37	11	62519939	62519939	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:62519939G>A	uc001nuz.2	-	2	1470	c.1348C>T	c.(1348-1350)CCA>TCA	p.P450S		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						AGGTAAAGTGGCTCATGCAGG	0.542000												
MAP4K2	5871	broad.mit.edu	37	11	64566893	64566893	+	Silent	SNP	C	C	T	rs150214987		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:64566893C>T	uc001obh.2	-	14	1145	c.1053G>A	c.(1051-1053)CCG>CCA	p.P351P	MAP4K2_uc001obi.2_Silent_p.P351P	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	351					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						GCCCACTCACCGGCTCATTCA	0.602000												
SCYL1	57410	broad.mit.edu	37	11	65302744	65302744	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:65302744T>C	uc001oea.1	+	10	1354	c.1277T>C	c.(1276-1278)GTG>GCG	p.V426A	SCYL1_uc009yqk.2_Missense_Mutation_p.V426A|SCYL1_uc001oeb.1_Missense_Mutation_p.V426A|SCYL1_uc001oec.1_Missense_Mutation_p.V426A|SCYL1_uc001oed.1_Missense_Mutation_p.V283A|SCYL1_uc001oee.1_Missense_Mutation_p.V70A	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	426	HEAT 2.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						AACCTCAATGTGGAGCTGATG	0.592000												
GAL3ST3	89792	broad.mit.edu	37	11	65810683	65810683	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:65810683G>A	uc001ogv.2	-	2	751	c.591C>T	c.(589-591)TTC>TTT	p.F197F	GAL3ST3_uc001ogw.2_Silent_p.F197F	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	197	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						CGAACATGGCGAAGTGCTCGC	0.697000												
CD248	57124	broad.mit.edu	37	11	66084469	66084469	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:66084469C>T	uc001ohm.1	-	1	47	c.30G>A	c.(28-30)GCG>GCA	p.A10A		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	10						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	GCCCTGCGGCCGCCCAGGCCA	0.761000												
SPTBN2	6712	broad.mit.edu	37	11	66466195	66466195	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:66466195C>T	uc001ojd.2	-	19	4001	c.3929G>A	c.(3928-3930)CGC>CAC	p.R1310H		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1310	Spectrin 10.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						ATGCAGGTTGCGGGCCTCGTC	0.557000												
SAPS3	55291	broad.mit.edu	37	11	68341618	68341618	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:68341618C>T	uc001onw.2	+	13	1652	c.1385C>T	c.(1384-1386)ACG>ATG	p.T462M	SAPS3_uc001onv.2_Missense_Mutation_p.T462M|SAPS3_uc001ony.3_Missense_Mutation_p.T462M|SAPS3_uc001onx.2_Missense_Mutation_p.T462M|SAPS3_uc009ysh.2_Missense_Mutation_p.T411M|SAPS3_uc001onu.2_Missense_Mutation_p.T411M|SAPS3_uc010rqc.1_Missense_Mutation_p.T230M|SAPS3_uc010rqd.1_Missense_Mutation_p.T174M|SAPS3_uc001onz.2_5'Flank	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	462					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			GGACACCTAACGAGGATAGCT	0.443000												
CPT1A	1374	broad.mit.edu	37	11	68574954	68574954	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:68574954C>T	uc001oog.3	-	4	604	c.434G>A	c.(433-435)CGT>CAT	p.R145H	CPT1A_uc001oof.3_Missense_Mutation_p.R145H|CPT1A_uc009ysj.2_Missense_Mutation_p.R145H	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	145	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTGGTGGCACGACTCATCTT	0.597000												
NADSYN1	55191	broad.mit.edu	37	11	71174487	71174487	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:71174487G>A	uc001oqn.2	+	4	399	c.273G>A	c.(271-273)ATG>ATA	p.M91I	NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	91	CN hydrolase.				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)	GGCCTGTAATGCACCGAAACG	0.597000												
FOLR3	2352	broad.mit.edu	37	11	71850856	71850856	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:71850856G>A	uc001ory.1	+	5	895	c.845G>A	c.(844-846)CGT>CAT	p.R282H	FOLR3_uc001orx.1_Missense_Mutation_p.R240H			P41439	FOLR3_HUMAN	SubName: Full=FOLR3 protein; Flags: Fragment;	238					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity				0					Folic Acid(DB00158)	GCCCCGTCTCGTGGGATTATT	0.517000												
CLPB	81570	broad.mit.edu	37	11	72083976	72083976	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:72083976G>A	uc001osj.2	-	5	779	c.729C>T	c.(727-729)CCC>CCT	p.P243P	CLPB_uc010rqx.1_Silent_p.P198P|CLPB_uc010rqy.1_Intron|CLPB_uc001osk.2_Intron|CLPB_uc009ytg.2_Intron|CLPB_uc010rqz.1_Intron	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	243					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						TACCGCCAGCGGGGAGTCCTA	0.517000												
RELT	84957	broad.mit.edu	37	11	73105600	73105600	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:73105600G>A	uc001otv.2	+	9	1032	c.867G>A	c.(865-867)TCG>TCA	p.S289S	RELT_uc001otw.2_Silent_p.S289S|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	289	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						GCCTGGCCTCGCTCTCTGGCC	0.687000												
UVRAG	7405	broad.mit.edu	37	11	75852356	75852356	+	Missense_Mutation	SNP	G	G	A	rs138436357		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:75852356G>A	uc001oxc.2	+	15	2240	c.1999G>A	c.(1999-2001)GAA>AAA	p.E667K	UVRAG_uc010rrw.1_Missense_Mutation_p.E566K|UVRAG_uc001oxd.2_Missense_Mutation_p.E295K|UVRAG_uc010rrx.1_Missense_Mutation_p.E295K|UVRAG_uc010rry.1_Missense_Mutation_p.E223K	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	667					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						AGAGTGTGACGAACAAGTTCT	0.512000												
PAK1	5058	broad.mit.edu	37	11	77043869	77043869	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:77043869T>C	uc001oyh.3	-	14	1990	c.1457A>G	c.(1456-1458)AAC>AGC	p.N486S	PAK1_uc010rso.1_Missense_Mutation_p.N388S|PAK1_uc001oyg.3_Missense_Mutation_p.N486S|PAK1_uc001oyi.1_Missense_Mutation_p.N486S|PAK1_uc010rsn.1_Missense_Mutation_p.N199S	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	486	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)					CTTCTCTGGGTTCTGAAGTTC	0.498000												
ODZ4	26011	broad.mit.edu	37	11	78381155	78381155	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:78381155C>T	uc001ozl.3	-	32	6698	c.6235G>A	c.(6235-6237)GCC>ACC	p.A2079T	ODZ4_uc001ozk.3_Missense_Mutation_p.A304T|ODZ4_uc009yvb.1_Missense_Mutation_p.A663T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2079	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TCAAAACGGGCGTTGACCATG	0.537000												
SYTL2	54843	broad.mit.edu	37	11	85418474	85418474	+	Missense_Mutation	SNP	G	G	A	rs142815066		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:85418474G>A	uc010rth.1	-	13	2377	c.2101C>T	c.(2101-2103)CGG>TGG	p.R701W	SYTL2_uc010rtg.1_Missense_Mutation_p.R702W|SYTL2_uc010rti.1_Missense_Mutation_p.R677W|SYTL2_uc010rtj.1_Missense_Mutation_p.R669W|SYTL2_uc001pav.2_Missense_Mutation_p.R143W|SYTL2_uc010rte.1_Missense_Mutation_p.R103W|SYTL2_uc001pax.2_Missense_Mutation_p.R143W|SYTL2_uc001paz.2_Missense_Mutation_p.R22W|SYTL2_uc001pba.2_Missense_Mutation_p.R86W|SYTL2_uc001pay.2_Missense_Mutation_p.R132W|SYTL2_uc001paw.2_Missense_Mutation_p.R103W|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Missense_Mutation_p.R999W|SYTL2_uc001pbb.2_Missense_Mutation_p.R1039W|SYTL2_uc001pbc.2_Missense_Mutation_p.R1023W|SYTL2_uc010rtf.1_Missense_Mutation_p.R519W	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	701	C2 1.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATAGATACCCGCAGTATTTCG	0.403000												
MTNR1B	4544	broad.mit.edu	37	11	92703053	92703053	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:92703053C>T	uc001pdk.1	+	1	265	c.162C>T	c.(160-162)GAC>GAT	p.D54D		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	54	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCGCCGTGGACGTCGTGGGCA	0.697000												
FAM76B	143684	broad.mit.edu	37	11	95516236	95516236	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:95516236G>A	uc001pfn.2	-	5	868	c.556C>T	c.(556-558)CAT>TAT	p.H186Y	FAM76B_uc001pfm.2_RNA	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	hypothetical protein LOC143684	186	His-rich.										0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACTTGTGATGGCTACTGCTG	0.279000												
MMP7	4316	broad.mit.edu	37	11	102398591	102398591	+	Missense_Mutation	SNP	C	C	T	rs145006821	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:102398591C>T	uc001phb.2	-	2	279	c.232G>A	c.(232-234)GTC>ATC	p.V78I	MMP7_uc009yxd.2_Missense_Mutation_p.V78I|MMP7_uc010rus.1_Missense_Mutation_p.V78I	NM_002423	NP_002414	P09237	MMP7_HUMAN	matrix metalloproteinase 7 preproprotein	78					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(1)	1	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		ATTTCTATGACGCGGGAGTTT	0.408000												
EXPH5	23086	broad.mit.edu	37	11	108382068	108382068	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:108382068A>G	uc001pkk.2	-	6	4277	c.4166T>C	c.(4165-4167)TTG>TCG	p.L1389S	EXPH5_uc010rvy.1_Missense_Mutation_p.L1201S|EXPH5_uc010rvz.1_Missense_Mutation_p.L1233S|EXPH5_uc010rwa.1_Missense_Mutation_p.L1313S	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1389					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCACTTTGCAACTTTTTGCC	0.338000												
ZBTB16	7704	broad.mit.edu	37	11	113934884	113934884	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:113934884G>A	uc001pop.2	+	2	1126	c.862G>A	c.(862-864)GTC>ATC	p.V288I	ZBTB16_uc001poo.1_Missense_Mutation_p.V288I|ZBTB16_uc001poq.2_Missense_Mutation_p.V288I	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	288					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCGAAGCAGCGTCATCACCAG	0.657000												
BUD13	84811	broad.mit.edu	37	11	116631626	116631626	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:116631626C>T	uc001ppn.2	-	5	1113	c.1079G>A	c.(1078-1080)CGG>CAG	p.R360Q	BUD13_uc001ppo.2_Missense_Mutation_p.R226Q|BUD13_uc009yzc.2_Missense_Mutation_p.R360Q	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	360										large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTGTTTATGCCGTGGAGAAGA	0.483000												
APOA5	116519	broad.mit.edu	37	11	116661768	116661768	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:116661768G>A	uc001ppr.2	-	3	185	c.177C>T	c.(175-177)AGC>AGT	p.S59S	APOA5_uc009yze.2_Silent_p.S59S|APOA5_uc009yzf.2_Silent_p.S59S|APOA5_uc009yzg.2_Silent_p.S85S	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	59	Potential.				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CTTGCTCAAGGCTGTCTTTCA	0.572000												
SIDT2	51092	broad.mit.edu	37	11	117064605	117064605	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:117064605C>T	uc001pqh.1	+	24	2289	c.2248C>T	c.(2248-2250)CTC>TTC	p.L750F	SIDT2_uc010rxe.1_Missense_Mutation_p.L750F|SIDT2_uc001pqg.2_Missense_Mutation_p.L771F|SIDT2_uc001pqi.1_Missense_Mutation_p.L747F|SIDT2_uc001pqj.1_Missense_Mutation_p.L62F	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	750	Helical; (Potential).					integral to membrane|lysosomal membrane					0	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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CATCCCCCTGCTCTGCATCGT	0.642000												
PCSK7	9159	broad.mit.edu	37	11	117077045	117077045	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:117077045C>T	uc001pqr.2	-	17	2227	c.2026G>A	c.(2026-2028)GTC>ATC	p.V676I	uc001pqq.1_RNA	NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	676	Helical; (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTCCAGAAGACGGTGAAACAG	0.547000			T	IGH@	MLCLS							
ARCN1	372	broad.mit.edu	37	11	118454580	118454580	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:118454580G>T	uc001ptq.2	+	4	665	c.504G>T	c.(502-504)CAG>CAT	p.Q168H	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.Q80H|ARCN1_uc009zag.2_Missense_Mutation_p.Q209H	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	168					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AATTACAACAGGCCCGAAGAG	0.443000												
TMEM136	219902	broad.mit.edu	37	11	120201049	120201049	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:120201049C>T	uc001pxh.1	+	3	626	c.563C>T	c.(562-564)ACG>ATG	p.T188M	TMEM136_uc001pxg.2_Intron|TMEM136_uc010rzm.1_Intron|TMEM136_uc001pxj.2_Missense_Mutation_p.T210M|TMEM136_uc009zas.1_Missense_Mutation_p.T74M|TMEM136_uc001pxi.1_Missense_Mutation_p.T74M	NM_174926	NP_777586	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	188	TLC.					integral to membrane				ovary(1)	1		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		GTCTCCCCCACGCCTAAGTGG	0.507000												
SCN3B	55800	broad.mit.edu	37	11	123508896	123508896	+	Silent	SNP	G	G	A	rs34964168	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:123508896G>A	uc001pza.1	-	5	989	c.582C>T	c.(580-582)AAC>AAT	p.N194N	SCN3B_uc001pzb.1_Silent_p.N194N	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN	voltage-gated sodium channel beta-3 subunit	194	Cytoplasmic (Potential).				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GGACTTACGCGTTTTCTTGGG	0.294000												
OR10G8	219869	broad.mit.edu	37	11	123900389	123900389	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:123900389G>A	uc001pzp.1	+	1	60	c.60G>A	c.(58-60)GCG>GCA	p.A20A		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATGCCCCAGCGCTGGACGCCC	0.572000												
C11orf61	79684	broad.mit.edu	37	11	124637344	124637344	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:124637344T>C	uc001qba.1	-	4	1431	c.1408A>G	c.(1408-1410)ACC>GCC	p.T470A	C11orf61_uc001qaz.1_Missense_Mutation_p.T418A|C11orf61_uc010sap.1_Missense_Mutation_p.T190A|C11orf61_uc001qay.1_Missense_Mutation_p.T240A	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	hypothetical protein LOC79684	470											0	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079)		ATAATTCGGGTGGGTTCTATT	0.478000												
CDON	50937	broad.mit.edu	37	11	125867186	125867186	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:125867186G>A	uc009zbw.2	-	12	2406	c.2278C>T	c.(2278-2280)CGG>TGG	p.R760W	CDON_uc001qdb.3_Missense_Mutation_p.R137W|CDON_uc001qdc.3_Missense_Mutation_p.R760W	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	760	Fibronectin type-III 2.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTCCTCATCCGTTTATATTCG	0.473000												
TIRAP	114609	broad.mit.edu	37	11	126162425	126162425	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:126162425G>A	uc001qdm.1	+	5	573	c.121G>A	c.(121-123)GAA>AAA	p.E41K	TIRAP_uc001qdl.1_Missense_Mutation_p.E41K|TIRAP_uc009zcb.1_Missense_Mutation_p.E41K|TIRAP_uc001qdn.1_Missense_Mutation_p.E41K|TIRAP_uc001qdo.1_Missense_Mutation_p.E41K	NM_001039661	NP_001034750	P58753	TIRAP_HUMAN	Toll-interleukin 1 receptor domain-containing	41					3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity			ovary(1)	1	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CAACTCCCCAGAAAGCACCTC	0.602000												
FLI1	2313	broad.mit.edu	37	11	128638142	128638142	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:128638142C>T	uc010sbu.1	+	3	701	c.360C>T	c.(358-360)AAC>AAT	p.N120N	FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Silent_p.N87N|FLI1_uc009zci.2_Silent_p.N54N|FLI1_uc001qen.2_Silent_p.N87N	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	120	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TGACCACCAACGAGAGGAGAG	0.582000			T	EWSR1	Ewing sarcoma							
NTM	50863	broad.mit.edu	37	11	132177681	132177681	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:132177681G>A	uc001qgp.2	+	4	1289	c.625G>A	c.(625-627)GCG>ACG	p.A209T	NTM_uc001qgm.2_Missense_Mutation_p.A209T|NTM_uc010sch.1_Missense_Mutation_p.A200T|NTM_uc010sci.1_Missense_Mutation_p.A209T|NTM_uc010scj.1_Missense_Mutation_p.A168T|NTM_uc001qgo.2_Missense_Mutation_p.A209T|NTM_uc001qgq.2_Missense_Mutation_p.A209T|NTM_uc001qgr.2_5'UTR	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	209	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						TGACGTGGCCGCGCCCGTGGT	0.577000												
JAM3	83700	broad.mit.edu	37	11	134015869	134015869	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:134015869C>T	uc001qhb.1	+	6	800	c.776C>T	c.(775-777)TCT>TTT	p.S259F	JAM3_uc009zcz.1_Missense_Mutation_p.S208F	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	214	Extracellular (Potential).|Ig-like C2-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		AAGGACGACTCTGGGCAGTAC	0.502000												
NCAPD3	23310	broad.mit.edu	37	11	134038926	134038926	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:134038926T>C	uc001qhd.1	-	25	3731	c.3125A>G	c.(3124-3126)CAC>CGC	p.H1042R	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_5'UTR	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1042					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CAGTAACAGGTGAGCCAGGCA	0.423000												
CACNA1C	775	broad.mit.edu	37	12	2800256	2800256	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:2800256C>T	uc009zdu.1	+	50	6870	c.6557C>T	c.(6556-6558)GCG>GTG	p.A2186V	CACNA1C_uc009zdv.1_Missense_Mutation_p.A2100V|CACNA1C_uc001qkb.2_Missense_Mutation_p.A2103V|CACNA1C_uc001qkc.2_Missense_Mutation_p.A2122V|CACNA1C_uc001qke.2_Missense_Mutation_p.A2092V|CACNA1C_uc001qkf.2_Missense_Mutation_p.A2111V|CACNA1C_uc001qjz.2_Missense_Mutation_p.A2103V|CACNA1C_uc001qkd.2_Missense_Mutation_p.A2122V|CACNA1C_uc001qkg.2_Missense_Mutation_p.A2109V|CACNA1C_uc009zdw.1_Missense_Mutation_p.A2144V|CACNA1C_uc001qkh.2_Missense_Mutation_p.A2111V|CACNA1C_uc001qkl.2_Missense_Mutation_p.A2151V|CACNA1C_uc001qkn.2_Missense_Mutation_p.A2103V|CACNA1C_uc001qko.2_Missense_Mutation_p.A2123V|CACNA1C_uc001qkp.2_Missense_Mutation_p.A2103V|CACNA1C_uc001qkr.2_Missense_Mutation_p.A2120V|CACNA1C_uc001qku.2_Missense_Mutation_p.A2138V|CACNA1C_uc001qkq.2_Missense_Mutation_p.A2131V|CACNA1C_uc001qks.2_Missense_Mutation_p.A2103V|CACNA1C_uc001qkt.2_Missense_Mutation_p.A2122V|CACNA1C_uc001qki.1_Missense_Mutation_p.A1910V|CACNA1C_uc001qkj.1_Missense_Mutation_p.A1874V|CACNA1C_uc001qkk.1_Missense_Mutation_p.A1839V|CACNA1C_uc001qkm.1_Missense_Mutation_p.A1899V|CACNA1C_uc010sea.1_Missense_Mutation_p.A794V|uc001qkx.1_RNA|CACNA1C_uc001qky.1_Missense_Mutation_p.A421V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2186	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCAGGGACGCGGGGCAGGAC	0.687000												
ITFG2	55846	broad.mit.edu	37	12	2929276	2929276	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:2929276T>C	uc001qlb.1	+	5	495	c.431T>C	c.(430-432)GTG>GCG	p.V144A	ITFG2_uc010seb.1_5'UTR|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	144	FG-GAP 2; atypical.										0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CGTGAGCTGGTGGTGGGCTAC	0.597000												
PRMT8	56341	broad.mit.edu	37	12	3678673	3678673	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:3678673G>A	uc001qmf.2	+	6	1022	c.655G>A	c.(655-657)GCA>ACA	p.A219T	PRMT8_uc009zed.2_Missense_Mutation_p.A210T|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Missense_Mutation_p.A33T	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	219					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCCAGACCGGGCAGCTTTGTA	0.463000												
PARP11	57097	broad.mit.edu	37	12	3921503	3921503	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:3921503C>T	uc001qmk.1	-	7	837	c.782G>A	c.(781-783)CGG>CAG	p.R261Q	PARP11_uc001qml.2_Missense_Mutation_p.R268Q|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.R187Q|PARP11_uc001qmn.2_Missense_Mutation_p.R187Q	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	261	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			AAACAGATGCCGCTGTTGCAA	0.408000												
KCNA5	3741	broad.mit.edu	37	12	5153999	5153999	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:5153999G>A	uc001qni.2	+	1	915	c.686G>A	c.(685-687)CGC>CAC	p.R229H		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	229						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CCCCTGCCCCGCAACGAGTTC	0.607000												
ZNF384	171017	broad.mit.edu	37	12	6776956	6776956	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:6776956G>A	uc010sfh.1	-	11	1866	c.1658C>T	c.(1657-1659)ACG>ATG	p.T553M	ZNF384_uc001qpz.2_Missense_Mutation_p.T492M|ZNF384_uc001qqa.2_Missense_Mutation_p.T492M|ZNF384_uc001qqb.2_Missense_Mutation_p.T476M|ZNF384_uc001qqc.2_Missense_Mutation_p.T492M|ZNF384_uc001qqd.2_Missense_Mutation_p.T437M|ZNF384_uc001qqe.2_Missense_Mutation_p.T476M	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	553					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						ATGCTCCGCCGTCTTATACGG	0.622000			T	EWSR1|TAF15 	ALL							
ACSM4	341392	broad.mit.edu	37	12	7463150	7463150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:7463150C>T	uc001qsx.1	+	3	428	c.428C>T	c.(427-429)CCG>CTG	p.P143L		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	143					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0						ATCTTCATGCCGGGAACAATC	0.577000												
GDF3	9573	broad.mit.edu	37	12	7842751	7842751	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:7842751A>G	uc001qte.2	-	2	854	c.818T>C	c.(817-819)TTC>TCC	p.F273S		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	273					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						CAGGTCCCGGAAGTTAATGAA	0.532000												
CLEC2D	29121	broad.mit.edu	37	12	9847427	9847427	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:9847427C>T	uc001qwg.1	+	5	555	c.533C>T	c.(532-534)ACA>ATA	p.T178I	CLEC2D_uc001qwf.1_3'UTR|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_RNA|CLEC2D_uc009zgu.1_3'UTR	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN	osteoclast inhibitory lectin isoform 1	178	Extracellular (Potential).|C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity				0						AGGCACTACACAGAGAGGAAG	0.413000												
PTPRO	5800	broad.mit.edu	37	12	15637007	15637007	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:15637007A>G	uc001rcv.1	+	2	349	c.175A>G	c.(175-177)AAG>GAG	p.K59E	PTPRO_uc001rcw.1_Missense_Mutation_p.K59E|PTPRO_uc001rcu.1_Missense_Mutation_p.K59E	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	59	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				GTATGTTGTGAAGATAACTGG	0.388000												
AEBP2	121536	broad.mit.edu	37	12	19615474	19615474	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:19615474C>T	uc001ref.2	+	2	728	c.702C>T	c.(700-702)AGC>AGT	p.S234S	AEBP2_uc001ree.2_Silent_p.S234S|AEBP2_uc001reg.1_Silent_p.S5S	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	234	Ser-rich.|Interaction with RBBP4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					ATGTAGACAGCACAATTTCCA	0.353000												
LST-3TM12	338821	broad.mit.edu	37	12	21201653	21201653	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:21201653C>T	uc010sin.1	+	8	1002	c.1002C>T	c.(1000-1002)CTC>CTT	p.L334L	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.L381L	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	334						membrane	transporter activity				0						TAGGAGTCCTCGCCCTACCTG	0.244000												
DBX2	440097	broad.mit.edu	37	12	45444539	45444539	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:45444539C>T	uc001rok.1	-	1	344	c.172G>A	c.(172-174)GCG>ACG	p.A58T		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	58						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TCGTGGGGCGCGGGCGGCTGC	0.731000												
ARID2	196528	broad.mit.edu	37	12	46211654	46211654	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:46211654C>T	uc001ros.1	+	5	620	c.620C>T	c.(619-621)GCC>GTC	p.A207V	ARID2_uc001ror.2_Missense_Mutation_p.A207V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	207					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	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)		CTTGCTAATGCCGGGGTGTTT	0.323000												
ARID2	196528	broad.mit.edu	37	12	46230382	46230382	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:46230382A>T	uc001ros.1	+	7	716	c.716A>T	c.(715-717)GAC>GTC	p.D239V	ARID2_uc001ror.2_Missense_Mutation_p.D239V|ARID2_uc009zkg.1_5'Flank|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	239					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	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)		TTTTGGAAAGACATCGTTGAT	0.274000												
COL2A1	1280	broad.mit.edu	37	12	48367966	48367966	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:48367966T>C	uc001rqu.2	-	53	4404	c.4223A>G	c.(4222-4224)AAG>AGG	p.K1408R	COL2A1_uc001rqt.2_Missense_Mutation_p.K189R|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.K1339R	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1408	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CAGGGCCTTCTTGAGGTTGCC	0.572000												
MLL2	8085	broad.mit.edu	37	12	49420289	49420289	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:49420289G>A	uc001rta.3	-	48	15460	c.15460C>T	c.(15460-15462)CGG>TGG	p.R5154W		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5154					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ATGTAGACCCGCCGGAAGACA	0.552000			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49433849	49433849	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:49433849G>A	uc001rta.3	-	31	7704	c.7704C>T	c.(7702-7704)CCC>CCT	p.P2568P		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2568	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGGTGGGGCCGGGCCCAAAAT	0.632000			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
SPATS2	65244	broad.mit.edu	37	12	49908349	49908349	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:49908349G>T	uc001rud.2	+	10	1840	c.851G>T	c.(850-852)CGA>CTA	p.R284L	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.R284L|SPATS2_uc001ruf.2_Missense_Mutation_p.R284L|SPATS2_uc001rug.2_Missense_Mutation_p.R284L	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	284						cytoplasm				breast(1)	1						TTAATGGATCGAGAAGTGGCG	0.323000												
SPATS2	65244	broad.mit.edu	37	12	49918545	49918545	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:49918545G>A	uc001rud.2	+	13	2181	c.1192G>A	c.(1192-1194)GCC>ACC	p.A398T	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.A398T|SPATS2_uc001ruf.2_Missense_Mutation_p.A398T|SPATS2_uc001rug.2_Missense_Mutation_p.A398T	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	398	Ser-rich.					cytoplasm				breast(1)	1						CCCAAGTGATGCCTCTGCTGC	0.488000												
FMNL3	91010	broad.mit.edu	37	12	50041505	50041505	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:50041505C>T	uc001ruv.1	-	23	2993	c.2759G>A	c.(2758-2760)CGA>CAA	p.R920Q	FMNL3_uc001ruw.1_Missense_Mutation_p.R869Q|FMNL3_uc001rut.1_Missense_Mutation_p.R486Q|FMNL3_uc001ruu.1_Missense_Mutation_p.R770Q	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	920	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						ACGAATGAATCGGACAAATAC	0.502000												
NR4A1	3164	broad.mit.edu	37	12	52448715	52448715	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:52448715C>A	uc001rzs.2	+	3	917	c.603C>A	c.(601-603)AGC>AGA	p.S201R	NR4A1_uc010sno.1_Missense_Mutation_p.S214R|NR4A1_uc001rzr.2_Missense_Mutation_p.S201R|NR4A1_uc009zmb.1_Missense_Mutation_p.S201R|NR4A1_uc001rzt.2_Missense_Mutation_p.S201R|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	201					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCAGCCCCAGCCTGGCCCAGA	0.657000												
NR4A1	3164	broad.mit.edu	37	12	52450996	52450996	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:52450996G>A	uc001rzs.2	+	6	1628	c.1314G>A	c.(1312-1314)TTG>TTA	p.L438L	NR4A1_uc010sno.1_Silent_p.L451L|NR4A1_uc001rzt.2_Silent_p.L438L|NR4A1_uc009zmc.2_Missense_Mutation_p.C52Y	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	438	Ligand-binding (Potential).				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		AGGACCTGTTGCTGGAGTCGG	0.607000												
KRT77	374454	broad.mit.edu	37	12	53091532	53091532	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:53091532G>A	uc001saw.2	-	2	721	c.692C>T	c.(691-693)GCG>GTG	p.A231V	KRT77_uc009zmi.2_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	231	Coil 1B.|Rod.					keratin filament	structural molecule activity			ovary(1)	1						CATCTGCTCCGCACTGAGCAA	0.577000												
KRT3	3850	broad.mit.edu	37	12	53189685	53189685	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:53189685C>T	uc001say.2	-	1	208	c.142G>A	c.(142-144)GGA>AGA	p.G48R		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	48	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						CCACCTGCTCCGCTCCGGAAG	0.672000												
TENC1	23371	broad.mit.edu	37	12	53457026	53457026	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:53457026C>T	uc001sbp.2	+	26	4112	c.3977C>T	c.(3976-3978)ACG>ATG	p.T1326M	TENC1_uc001sbl.2_Missense_Mutation_p.T1202M|TENC1_uc001sbn.2_Missense_Mutation_p.T1336M|TENC1_uc001sbq.2_Missense_Mutation_p.T724M|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.T819M|TENC1_uc001sbs.2_Missense_Mutation_p.T145M	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	1326					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						ATTACACTGACGGACAACCAA	0.587000												
ERBB3	2065	broad.mit.edu	37	12	56478927	56478927	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:56478927G>A	uc001sjh.2	+	3	576	c.383G>A	c.(382-384)AGC>AAC	p.S128N	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.S69N|ERBB3_uc001sjg.2_Missense_Mutation_p.S128N	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	128	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCAACTCCAGCCACGCTCTG	0.577000												
PA2G4	5036	broad.mit.edu	37	12	56505000	56505000	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:56505000G>A	uc001sjm.2	+	11	1391	c.972G>A	c.(970-972)CTG>CTA	p.L324L	PA2G4_uc009zol.2_Silent_p.L324L|PA2G4_uc009zom.2_Intron	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	ErbB3-binding protein 1	324	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TTACAGTTCTGCTCATGCCCA	0.433000												
PAN2	9924	broad.mit.edu	37	12	56721843	56721843	+	Missense_Mutation	SNP	G	G	A	rs139831098	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:56721843G>A	uc001skx.2	-	5	960	c.587C>T	c.(586-588)ACG>ATG	p.T196M	PAN2_uc001skz.2_Missense_Mutation_p.T196M|PAN2_uc001sky.2_Missense_Mutation_p.T196M	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	196					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						GACTCCAGGCGTCTCTACTGC	0.527000												
BAZ2A	11176	broad.mit.edu	37	12	56995599	56995599	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:56995599G>T	uc001slq.1	-	20	4002	c.3808C>A	c.(3808-3810)CTG>ATG	p.L1270M	BAZ2A_uc001slp.1_Missense_Mutation_p.L1268M|BAZ2A_uc001slo.1_Missense_Mutation_p.L98M|BAZ2A_uc009zov.1_Missense_Mutation_p.L240M|BAZ2A_uc009zow.1_Missense_Mutation_p.L1238M	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1270	Glu-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						AGCCAAGACAGGAAGGCTGAC	0.498000												
R3HDM2	22864	broad.mit.edu	37	12	57663593	57663593	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:57663593T>C	uc009zpm.1	-	13	1522	c.1487A>G	c.(1486-1488)CAT>CGT	p.H496R	R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.H191R|R3HDM2_uc001snr.2_Missense_Mutation_p.H223R|R3HDM2_uc001sns.2_Missense_Mutation_p.H496R|R3HDM2_uc001snt.2_Missense_Mutation_p.H510R|R3HDM2_uc009zpn.1_Missense_Mutation_p.H119R	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	496	Gln-rich.					nucleus	nucleic acid binding			ovary(2)	2						AGGTGGTGCATGGCTAGAGGT	0.547000												
TMEM5	10329	broad.mit.edu	37	12	64196138	64196138	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:64196138C>T	uc001srq.1	+	4	800	c.696C>T	c.(694-696)CCC>CCT	p.P232P	TMEM5_uc001srr.1_Silent_p.P129P|TMEM5_uc001srs.1_5'UTR	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	232	Extracellular (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ATGACAGCCCCTGGATTAATG	0.383000												
CPSF6	11052	broad.mit.edu	37	12	69656202	69656202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:69656202C>T	uc001sut.3	+	9	1629	c.1519C>T	c.(1519-1521)CGA>TGA	p.R507*	CPSF6_uc001suu.3_Nonsense_Mutation_p.R544*|CPSF6_uc010stk.1_Nonsense_Mutation_p.R139*	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6,	507	Arg-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGAAAAGAGTCGACGTCATAA	0.383000												
LRRIQ1	84125	broad.mit.edu	37	12	85546106	85546106	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:85546106T>A	uc001tac.2	+	20	4489	c.4378T>A	c.(4378-4380)TCA>ACA	p.S1460T		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1460										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		CCGCTTCCCTTCACAAACACT	0.383000												
TMCC3	57458	broad.mit.edu	37	12	94976112	94976112	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:94976112G>T	uc001tdj.2	-	2	399	c.281C>A	c.(280-282)GCG>GAG	p.A94E	TMCC3_uc001tdi.2_Missense_Mutation_p.A63E	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	94						integral to membrane				ovary(1)|skin(1)	2						CAGATACTCCGCAACATTCCC	0.453000												
SLC17A8	246213	broad.mit.edu	37	12	100774527	100774527	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:100774527A>T	uc010svi.1	+	2	463	c.150A>T	c.(148-150)GAA>GAT	p.E50D	SLC17A8_uc009ztx.2_Missense_Mutation_p.E50D	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	50	Cytoplasmic (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						AGCTGAATGAAGAAGGAAGGC	0.493000												
ALDH1L2	160428	broad.mit.edu	37	12	105467707	105467707	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:105467707C>T	uc001tlc.2	-	2	252	c.125G>A	c.(124-126)CGC>CAC	p.R42H	ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	42	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						GCCCTCTTTGCGGAGGTGGCT	0.478000												
C12orf51	283450	broad.mit.edu	37	12	112622701	112622701	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:112622701C>T	uc009zwc.2	-	54	8821	c.8803G>A	c.(8803-8805)GCA>ACA	p.A2935T		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						AGGGTGAGTGCGCGGTGGAAC	0.677000												
TBX5	6910	broad.mit.edu	37	12	114804092	114804092	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:114804092A>G	uc001tvo.2	-	8	1355	c.860T>C	c.(859-861)TTG>TCG	p.L287S	TBX5_uc001tvp.2_Missense_Mutation_p.L287S|TBX5_uc001tvq.2_Missense_Mutation_p.L237S|TBX5_uc010syv.1_Missense_Mutation_p.L287S	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	287					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTGGGACCCCAAATTGGATGA	0.577000												
CCDC64	92558	broad.mit.edu	37	12	120530903	120530903	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:120530903C>T	uc001txl.1	+	9	1685	c.1660C>T	c.(1660-1662)CGG>TGG	p.R554W	CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Missense_Mutation_p.R225W|CCDC64_uc010szf.1_Missense_Mutation_p.R251W	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	554					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCGCTGGGCGGGGGGATGA	0.592000												
ABCB9	23457	broad.mit.edu	37	12	123444274	123444274	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:123444274G>T	uc001udm.3	-	2	819	c.509C>A	c.(508-510)TCT>TAT	p.S170Y	ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.S170Y|ABCB9_uc010taj.1_Missense_Mutation_p.S170Y|ABCB9_uc001udp.2_Missense_Mutation_p.S170Y|ABCB9_uc001udq.2_Translation_Start_Site|ABCB9_uc001udr.2_Missense_Mutation_p.S170Y	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	170					positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CGTGGCCCCAGACGCCTGCTC	0.701000												
RIMBP2	23504	broad.mit.edu	37	12	130898786	130898786	+	Missense_Mutation	SNP	C	C	T	rs138034003		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:130898786C>T	uc001uil.2	-	14	2700	c.2536G>A	c.(2536-2538)GAA>AAA	p.E846K		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	846						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAGCTCTTCGGCACCAGGG	0.567000												
SFRS8	6433	broad.mit.edu	37	12	132237851	132237851	+	Missense_Mutation	SNP	C	C	T	rs149701391	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:132237851C>T	uc001uja.1	+	8	1405	c.1265C>T	c.(1264-1266)CCG>CTG	p.P422L	SFRS8_uc010tbn.1_Missense_Mutation_p.P422L|SFRS8_uc001ujb.1_Missense_Mutation_p.P215L|SFRS8_uc001uiz.1_Missense_Mutation_p.P296L	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	422	Poly-Pro.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		ACACCACTACCGCCCCCAACC	0.627000												
ANKLE2	23141	broad.mit.edu	37	12	133304630	133304630	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:133304630G>A	uc001ukx.2	-	12	2670	c.2603C>T	c.(2602-2604)TCG>TTG	p.S868L	ANKLE2_uc009zyw.1_Missense_Mutation_p.S223L	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	868						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)		CTGTCTGTCCGAGGGTGAGTA	0.577000												
TNFRSF19	55504	broad.mit.edu	37	13	24234605	24234605	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:24234605C>T	uc001uov.1	+	7	776	c.712C>T	c.(712-714)CGC>TGC	p.R238C	TNFRSF19_uc001uot.2_Missense_Mutation_p.R238C|TNFRSF19_uc010tcu.1_Missense_Mutation_p.R106C|TNFRSF19_uc001uow.2_Missense_Mutation_p.R238C	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	238	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CTGCCAGTGCCGCCGTGACTC	0.557000												
CENPJ	55835	broad.mit.edu	37	13	25487066	25487066	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:25487066C>T	uc001upt.3	-	2	351	c.98G>A	c.(97-99)CGT>CAT	p.R33H	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	33					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)		AGGAAATCCACGATTTAATAT	0.448000												
SHISA2	387914	broad.mit.edu	37	13	26621193	26621193	+	Missense_Mutation	SNP	C	C	T	rs113091428	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:26621193C>T	uc001uqm.1	-	2	431	c.346G>A	c.(346-348)GTG>ATG	p.V116M		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	shisa homolog 2 precursor	116	Helical; (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2						AGGAACGGCACGTAGATGGGC	0.507000												
MTUS2	23281	broad.mit.edu	37	13	29599208	29599208	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:29599208C>T	uc001usl.3	+	1	461	c.403C>T	c.(403-405)CGG>TGG	p.R135W		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	125						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						GCAGACCACGCGGAGTATTCA	0.498000												
FRY	10129	broad.mit.edu	37	13	32792901	32792901	+	Silent	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:32792901C>A	uc001utx.2	+	36	5194	c.4698C>A	c.(4696-4698)ATC>ATA	p.I1566I	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1566					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)		GTAATGTCATCAGAGCCCACA	0.363000												
PDS5B	23047	broad.mit.edu	37	13	33338669	33338669	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:33338669C>T	uc010abf.2	+	31	3719	c.3561C>T	c.(3559-3561)TAC>TAT	p.Y1187Y	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1187					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ATGAAGATTACACAATGTCTT	0.313000												
PDS5B	23047	broad.mit.edu	37	13	33344618	33344618	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:33344618A>G	uc010abf.2	+	32	4142	c.3984A>G	c.(3982-3984)GAA>GAG	p.E1328E	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1328					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGGAGGAGGAAGAAGAAGAAA	0.433000												
KL	9365	broad.mit.edu	37	13	33590992	33590992	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:33590992G>A	uc001uus.2	+	1	422	c.414G>A	c.(412-414)GCG>GCA	p.A138A	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	138	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACACGGAGGCGCTGCGCGAGC	0.711000												
C13orf36	400120	broad.mit.edu	37	13	37269458	37269458	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:37269458C>T	uc001uvt.3	+	2	689	c.243C>T	c.(241-243)AGC>AGT	p.S81S		NM_203451	NP_982276	A2A2V5	CM036_HUMAN	hypothetical protein LOC400120	81						integral to membrane				skin(1)	1						AGTATCCAAGCGACGCTGGAA	0.453000												
FNDC3A	22862	broad.mit.edu	37	13	49705293	49705293	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:49705293T>C	uc001vcm.2	+	5	578	c.273T>C	c.(271-273)GTT>GTC	p.V91V	FNDC3A_uc001vcl.1_Silent_p.V91V|FNDC3A_uc001vcn.2_Silent_p.V91V|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Silent_p.V35V|FNDC3A_uc001vcq.2_Silent_p.V35V	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	91	Pro-rich.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACAATGGTGTTCGAAGAGTTG	0.393000												
CCDC70	83446	broad.mit.edu	37	13	52439593	52439593	+	Missense_Mutation	SNP	C	C	T	rs140119115	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:52439593C>T	uc001vfu.3	+	2	375	c.79C>T	c.(79-81)CGG>TGG	p.R27W	uc010tgr.1_RNA	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70 precursor	27						extracellular region|plasma membrane					0		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		TGCCTGCTTCCGGTCCCTGGC	0.532000												
PIBF1	10464	broad.mit.edu	37	13	73369627	73369627	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:73369627A>G	uc001vjc.2	+	4	789	c.484A>G	c.(484-486)ACA>GCA	p.T162A	PIBF1_uc001vja.1_Missense_Mutation_p.T162A|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.T162A|PIBF1_uc010aep.2_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	162						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CTTTGAGTTGACAGAAGAGCA	0.338000												
MYCBP2	23077	broad.mit.edu	37	13	77672645	77672645	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:77672645G>A	uc001vkf.2	-	57	8621	c.8530C>T	c.(8530-8532)CGC>TGC	p.R2844C	MYCBP2_uc010aev.2_Missense_Mutation_p.R2248C|MYCBP2_uc001vkg.1_Missense_Mutation_p.R367C|MYCBP2_uc010aew.2_Missense_Mutation_p.R230C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCTTCTTGCGGAGGGTATCT	0.443000												
MYCBP2	23077	broad.mit.edu	37	13	77779485	77779485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:77779485G>T	uc001vkf.2	-	27	3726	c.3635C>A	c.(3634-3636)TCA>TAA	p.S1212*	MYCBP2_uc010aev.2_Nonsense_Mutation_p.S616*	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTTCTACTGAATGGGCAGA	0.358000												
MYCBP2	23077	broad.mit.edu	37	13	77807400	77807400	+	Splice_Site	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:77807400T>C	uc001vkf.2	-	19	2607	c.2516_splice	c.e19-1	p.G839_splice	MYCBP2_uc010aev.2_Splice_Site_p.G243_splice	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAAGGGGGCCTGAGGAGAAAC	0.358000												
SLITRK1	114798	broad.mit.edu	37	13	84454312	84454312	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:84454312G>A	uc001vlk.2	-	1	2217	c.1331C>T	c.(1330-1332)GCG>GTG	p.A444V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	444	LRR 9.|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)		TTGCAGCCCCGCGAATTTCTC	0.502000												
UGGT2	55757	broad.mit.edu	37	13	96589280	96589280	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:96589280A>G	uc001vmt.2	-	17	2045	c.1875T>C	c.(1873-1875)GGT>GGC	p.G625G		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	625					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						TAAAGGGTTCACCATTATAAA	0.328000												
MBNL2	10150	broad.mit.edu	37	13	97999281	97999281	+	Missense_Mutation	SNP	C	C	T	rs148388439		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:97999281C>T	uc010aft.2	+	5	1580	c.764C>T	c.(763-765)GCG>GTG	p.A255V	MBNL2_uc001vmz.2_Missense_Mutation_p.A255V|MBNL2_uc001vna.2_Missense_Mutation_p.A255V|MBNL2_uc001vnb.2_Intron|MBNL2_uc010tij.1_Intron|MBNL2_uc001vnc.2_5'Flank	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	255					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AACCAAGCTGCGGTGGCCGCC	0.657000												
IPO5	3843	broad.mit.edu	37	13	98664543	98664543	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:98664543C>T	uc001vnf.1	+	18	2164	c.2099C>T	c.(2098-2100)ACC>ATC	p.T700I	IPO5_uc001vne.2_Missense_Mutation_p.T718I|IPO5_uc010tik.1_Missense_Mutation_p.T575I|IPO5_uc010til.1_Missense_Mutation_p.T640I|IPO5_uc001vng.1_Missense_Mutation_p.T321I	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	700					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						GTGGAGTACACCGAACAGGTT	0.353000												
DOCK9	23348	broad.mit.edu	37	13	99481978	99481978	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:99481978G>A	uc001vnt.2	-	42	4657	c.4602C>T	c.(4600-4602)GAC>GAT	p.D1534D	DOCK9_uc001vnw.2_Silent_p.D1533D|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.D1534D|DOCK9_uc001vnq.2_Silent_p.D106D|DOCK9_uc001vnr.2_Silent_p.D177D|DOCK9_uc010tin.1_Silent_p.D177D|DOCK9_uc001vns.2_Silent_p.D106D|DOCK9_uc010tio.1_Silent_p.D226D|DOCK9_uc010tip.1_Silent_p.D244D|DOCK9_uc001vnu.1_Silent_p.D106D|DOCK9_uc010tiq.1_Silent_p.D512D	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1534	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCCAACAACGTCTGCTATCA	0.507000												
TPP2	7174	broad.mit.edu	37	13	103289546	103289546	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:103289546G>A	uc001vpi.3	+	14	1896	c.1793G>A	c.(1792-1794)CGT>CAT	p.R598H		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	598					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATAAACATACGTGTGGATCCC	0.363000												
FAM155A	728215	broad.mit.edu	37	13	108518636	108518636	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:108518636C>G	uc001vql.2	-	1	825	c.309G>C	c.(307-309)TGG>TGC	p.W103C		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	103						integral to membrane	binding			skin(1)	1						GGAGCGCGGGCCAGGAGGgct	0.423000												
ATP11A	23250	broad.mit.edu	37	13	113439565	113439565	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:113439565G>A	uc001vsi.3	+	2	244	c.156G>A	c.(154-156)TCG>TCA	p.S52S	ATP11A_uc001vsj.3_Silent_p.S52S|ATP11A_uc001vsm.1_5'UTR	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	52	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGATCGTCTCGTCCAAGGTAA	0.562000												
F10	2159	broad.mit.edu	37	13	113793678	113793678	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:113793678C>T	uc001vsx.2	+	4	321	c.264C>T	c.(262-264)GAC>GAT	p.D88D	F10_uc010agq.1_RNA|F10_uc001vsy.2_Silent_p.D88D|F10_uc001vsz.2_Silent_p.D88D	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	88	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGATGGCGACCAGTGTGAGA	0.512000												
GAS6	2621	broad.mit.edu	37	13	114525103	114525103	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:114525103G>A	uc001vud.2	-	14	1863	c.1710C>T	c.(1708-1710)TGC>TGT	p.C570C	GAS6_uc001vug.2_Silent_p.C271C|GAS6_uc001vuf.2_Silent_p.C297C	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	613	Laminin G-like 2.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CTTGGCCGTCGCAGACCTTGA	0.687000												
TEP1	7011	broad.mit.edu	37	14	20850088	20850088	+	Missense_Mutation	SNP	C	C	T	rs61739723		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:20850088C>T	uc001vxe.2	-	30	4448	c.4408G>A	c.(4408-4410)GTC>ATC	p.V1470I	TEP1_uc010ahk.2_Missense_Mutation_p.V813I|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.V1362I|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1470	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGACTCTGGACGAGGCAGGCA	0.607000												
ABHD4	63874	broad.mit.edu	37	14	23072897	23072897	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:23072897C>T	uc001wgm.2	+	4	622	c.553C>T	c.(553-555)CGT>TGT	p.R185C	ABHD4_uc010tmz.1_3'UTR|ABHD4_uc010tna.1_Missense_Mutation_p.R185C|ABHD4_uc010tnb.1_Intron	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	185				EIR -> GIC (in Ref. 1; BAB14289).	lipid catabolic process		hydrolase activity			central_nervous_system(1)	1	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CAGTGAGATCCGTGCACCCCC	0.557000												
IRF9	10379	broad.mit.edu	37	14	24632182	24632182	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:24632182C>A	uc001wmq.2	+	3	315	c.188C>A	c.(187-189)GCA>GAA	p.A63E	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_5'UTR	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	63	IRF tryptophan pentad repeat.				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			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		TAGGCCTGGGCAATATTTAAG	0.433000												
NPAS3	64067	broad.mit.edu	37	14	34269189	34269189	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:34269189G>A	uc001wru.2	+	12	1740	c.1676G>A	c.(1675-1677)CGC>CAC	p.R559H	NPAS3_uc001wrs.2_Missense_Mutation_p.R546H|NPAS3_uc001wrt.2_Missense_Mutation_p.R527H|NPAS3_uc001wrv.2_Missense_Mutation_p.R529H	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAGGTGGAGCGCTACGTGGAG	0.672000												
BRMS1L	84312	broad.mit.edu	37	14	36302264	36302264	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:36302264C>T	uc001wtl.2	+	3	440	c.314C>T	c.(313-315)CCG>CTG	p.P105L	BRMS1L_uc010tpx.1_Missense_Mutation_p.P57L	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	105					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		TACTTGGAACCGCTGGCAACT	0.353000												
BRMS1L	84312	broad.mit.edu	37	14	36304094	36304094	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:36304094G>A	uc001wtl.2	+	4	532	c.406G>A	c.(406-408)GAA>AAA	p.E136K	BRMS1L_uc010tpx.1_Missense_Mutation_p.E88K	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	136					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		GAACAAATATGAATGTGAAAT	0.358000												
FANCM	57697	broad.mit.edu	37	14	45605364	45605364	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:45605364G>A	uc001wwd.3	+	1	229	c.130G>A	c.(130-132)GCA>ACA	p.A44T	FANCM_uc001wwc.2_Missense_Mutation_p.A44T|FANCM_uc010anf.2_Missense_Mutation_p.A44T|FKBP3_uc010tqf.1_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	44					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						GCCTTTGCCAGCAGCAGCGGA	0.622000								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
MDGA2	161357	broad.mit.edu	37	14	47314993	47314993	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:47314993C>T	uc001wwj.3	-	16	2954	c.2758G>A	c.(2758-2760)GCA>ACA	p.A920T	MDGA2_uc001wwh.3_Missense_Mutation_p.A122T|MDGA2_uc001wwi.3_Missense_Mutation_p.A691T	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	920	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TCTTGTTTTGCACATTCTCCT	0.313000												
POLE2	5427	broad.mit.edu	37	14	50122404	50122404	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:50122404G>A	uc001wwu.2	-	11	927	c.913C>T	c.(913-915)CGC>TGC	p.R305C	SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Missense_Mutation_p.R20C|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Missense_Mutation_p.R20C	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	305					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					AACATTATGCGAAGTTTTTCC	0.313000												
OTX2	5015	broad.mit.edu	37	14	57271048	57271048	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:57271048C>T	uc001xcp.2	-	2	278	c.107G>A	c.(106-108)CGG>CAG	p.R36Q	OTX2_uc010aou.2_Missense_Mutation_p.R36Q|OTX2_uc001xcq.2_Missense_Mutation_p.R44Q	NM_172337	NP_758840	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform b	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCGCTGTTTCCGGGGGGTGGC	0.632000												
DACT1	51339	broad.mit.edu	37	14	59113480	59113480	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:59113480C>T	uc001xdw.2	+	4	2303	c.2139C>T	c.(2137-2139)TAC>TAT	p.Y713Y	DACT1_uc010trv.1_Silent_p.Y432Y|DACT1_uc001xdx.2_Silent_p.Y676Y|DACT1_uc010trw.1_Silent_p.Y432Y	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	713					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						CTCTGCCCTACGCCAGCCCCT	0.672000												
C14orf149	112849	broad.mit.edu	37	14	59950671	59950671	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:59950671G>A	uc001xee.1	-	1	403	c.364C>T	c.(364-366)CCG>TCG	p.P122S	C14orf149_uc010trx.1_Missense_Mutation_p.P122S|JKAMP_uc001xef.3_5'Flank|JKAMP_uc001xeh.3_5'Flank|JKAMP_uc001xeg.3_5'Flank|JKAMP_uc010try.1_5'Flank|JKAMP_uc001xei.3_5'Flank	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	proline racemase-like	122							proline racemase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	GGGGGCGCCGGCACAAGCCCG	0.706000											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C14orf39	317761	broad.mit.edu	37	14	60923730	60923730	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:60923730C>T	uc001xez.3	-	15	1373	c.1263G>A	c.(1261-1263)ACG>ACA	p.T421T	C14orf39_uc010apo.2_Silent_p.T132T	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	421										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GAATTTCAGACGTTCGTGGAA	0.378000												
TRMT5	57570	broad.mit.edu	37	14	61446364	61446364	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:61446364T>A	uc001xff.3	-	2	343	c.252A>T	c.(250-252)AAA>AAT	p.K84N	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	84						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTCTATCAAGTTTTGTCATGC	0.393000												
PPP2R5E	5529	broad.mit.edu	37	14	63848863	63848863	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:63848863C>T	uc001xgd.1	-	13	1805	c.1215G>A	c.(1213-1215)GCG>GCA	p.A405A	PPP2R5E_uc010tsf.1_Silent_p.A329A|PPP2R5E_uc010tsg.1_Silent_p.A329A|PPP2R5E_uc001xge.2_Silent_p.A405A|PPP2R5E_uc010tsh.1_Silent_p.A405A|PPP2R5E_uc001xgf.1_RNA	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	405					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TGTACACCAACGCCACAATAG	0.403000												
ZBTB25	7597	broad.mit.edu	37	14	64954669	64954669	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:64954669G>A	uc001xhf.2	-	3	463	c.280C>T	c.(280-282)CGT>TGT	p.R94C	ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Missense_Mutation_p.R94C	NM_006977	NP_008908	P24278	ZBT25_HUMAN	zinc finger protein 46	94	BTB.					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TCCTCCAAACGACTATGATCC	0.423000												
HSPA2	3306	broad.mit.edu	37	14	65008770	65008770	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:65008770G>A	uc001xhj.2	+	2	1279	c.1203G>A	c.(1201-1203)CCG>CCA	p.P401P	HSPA2_uc001xhk.3_Silent_p.P401P	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	401					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACGTGACCCCGTTGTCGCTGG	0.622000												
VTI1B	10490	broad.mit.edu	37	14	68129194	68129194	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:68129194C>T	uc001xjt.2	-	2	570	c.174G>A	c.(172-174)ACG>ACA	p.T58T	VTI1B_uc010aqp.2_5'UTR|VTI1B_uc001xju.2_Intron	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with	58	Potential.|Cytoplasmic (Potential).				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane					0				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TTGTTCTCACCGTTTCATTTG	0.328000												
ACOT1	641371	broad.mit.edu	37	14	74009849	74009849	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:74009849C>T	uc001xol.1	+	3	954	c.756C>T	c.(754-756)GTC>GTT	p.V252V	HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Intron	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	252					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CGGCTGCTGTCGTCATCAACG	0.567000												
FAM161B	145483	broad.mit.edu	37	14	74409118	74409118	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:74409118C>T	uc001xpd.1	-	4	1332	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1						CTGAGGGTGGCGCAGGTTGGC	0.617000												
ZC3H14	79882	broad.mit.edu	37	14	89075670	89075670	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:89075670A>G	uc001xww.2	+	14	2153	c.1928A>G	c.(1927-1929)TAT>TGT	p.Y643C	ZC3H14_uc010twd.1_Missense_Mutation_p.Y643C|ZC3H14_uc010twe.1_Missense_Mutation_p.Y638C|ZC3H14_uc001xwx.2_Missense_Mutation_p.Y487C|ZC3H14_uc010twf.1_Missense_Mutation_p.Y357C|ZC3H14_uc001xwy.2_Missense_Mutation_p.Y478C|ZC3H14_uc010twg.1_Missense_Mutation_p.Y332C|ZC3H14_uc001xxa.2_Missense_Mutation_p.Y188C|ZC3H14_uc001xxc.2_Missense_Mutation_p.Y187C|ZC3H14_uc001xxb.2_Missense_Mutation_p.Y214C	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	643	C3H1-type 3.					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						AATTGTAAATATGATGCAAAG	0.353000												
KIAA1409	57578	broad.mit.edu	37	14	94088364	94088364	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:94088364G>A	uc001ybv.1	+	28	4403	c.4320G>A	c.(4318-4320)TCG>TCA	p.S1440S	KIAA1409_uc001ybs.1_Silent_p.S1418S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1595						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AAGTTGACTCGCCGGTAAAGC	0.478000												
CLMN	79789	broad.mit.edu	37	14	95688092	95688092	+	Missense_Mutation	SNP	G	G	A	rs146706338	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:95688092G>A	uc001yef.2	-	4	376	c.260C>T	c.(259-261)TCG>TTG	p.S87L		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	87	Actin-binding.|CH 1.					integral to membrane	actin binding				0				Epithelial(152;0.193)		ACGATGCGACGAGGATTTGTA	0.443000												
PAPOLA	10914	broad.mit.edu	37	14	96986562	96986562	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:96986562G>A	uc001yfq.2	+	2	389	c.179G>A	c.(178-180)CGC>CAC	p.R60H	PAPOLA_uc001yfo.2_Missense_Mutation_p.R60H|PAPOLA_uc001yfp.2_Missense_Mutation_p.R60H|PAPOLA_uc001yfr.2_Missense_Mutation_p.R60H|PAPOLA_uc010twv.1_Missense_Mutation_p.R60H|PAPOLA_uc010avp.2_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	60					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GAACTGCAGCGCAGGTAAATA	0.383000												
WARS	7453	broad.mit.edu	37	14	100801346	100801346	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:100801346C>T	uc001yhf.1	-	10	1366	c.1282G>A	c.(1282-1284)GGT>AGT	p.G428S	WARS_uc001yhe.1_Missense_Mutation_p.G234S|WARS_uc001yhg.1_Missense_Mutation_p.G428S|WARS_uc001yhh.1_Missense_Mutation_p.G428S|WARS_uc001yhi.1_Missense_Mutation_p.G387S|WARS_uc001yhj.1_Missense_Mutation_p.G387S|WARS_uc001yhk.1_Missense_Mutation_p.G387S|WARS_uc001yhl.1_Missense_Mutation_p.G428S	NM_173701	NP_776049	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase isoform a	428					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(1)	1		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TTGAGCTCACCGGTGAGCATG	0.597000												
PPP1R13B	23368	broad.mit.edu	37	14	104201496	104201496	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:104201496C>T	uc001yof.1	-	17	3551	c.3268G>A	c.(3268-3270)GCC>ACC	p.A1090T	PPP1R13B_uc010awv.1_RNA	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	1090					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GAAGTTCAGGCGAGTGTTCGC	0.557000												
BRF1	2972	broad.mit.edu	37	14	105685344	105685344	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:105685344C>A	uc001yqp.2	-	14	1869	c.1506G>T	c.(1504-1506)AAG>AAT	p.K502N	BRF1_uc010tyo.1_Missense_Mutation_p.K387N|BRF1_uc010typ.1_Missense_Mutation_p.K409N|BRF1_uc001yqk.2_Missense_Mutation_p.K28N|BRF1_uc001yql.2_Missense_Mutation_p.K298N|BRF1_uc001yqo.2_Missense_Mutation_p.K264N|BRF1_uc010axg.1_Missense_Mutation_p.K475N|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_Missense_Mutation_p.K28N	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	502					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CCTTGTGTTCCTTGTAGATGC	0.577000												
BRF1	2972	broad.mit.edu	37	14	105739058	105739058	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:105739058G>A	uc001yqp.2	-	3	802	c.439C>T	c.(439-441)CAC>TAC	p.H147Y	BRF1_uc010tyo.1_Missense_Mutation_p.H32Y|BRF1_uc010typ.1_Missense_Mutation_p.H32Y|BRF1_uc010axg.1_Missense_Mutation_p.H120Y|BRF1_uc001yqr.2_Missense_Mutation_p.H147Y	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	147	1.				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CAAAGGATACGCGGCGTGCCC	0.587000												
OR4N4	283694	broad.mit.edu	37	15	22382983	22382983	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:22382983C>T	uc001yuc.1	+	7	1492	c.511C>T	c.(511-513)CCA>TCA	p.P171S	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.P171S	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	171	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTTTGTGGCCCAAACCAGCT	0.522000												
GABRB3	2562	broad.mit.edu	37	15	26793063	26793063	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:26793063T>C	uc001zaz.2	-	9	1441	c.1299A>G	c.(1297-1299)TCA>TCG	p.S433S	GABRB3_uc010uae.1_Silent_p.S348S|GABRB3_uc001zba.2_Silent_p.S433S|GABRB3_uc001zbb.2_Silent_p.S489S	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	433	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		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)	TTTTGAGCTGTGAAGACCTCC	0.473000												
GABRB3	2562	broad.mit.edu	37	15	26812789	26812789	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:26812789C>T	uc001zaz.2	-	7	916	c.774G>A	c.(772-774)ACG>ACA	p.T258T	GABRB3_uc010uae.1_Silent_p.T173T|GABRB3_uc001zba.2_Silent_p.T258T|GABRB3_uc001zbb.2_Silent_p.T314T	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	258	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		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)	ACGACAGAATCGTTATCAGTA	0.408000												
HERC2	8924	broad.mit.edu	37	15	28474714	28474714	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:28474714C>A	uc001zbj.2	-	33	5118	c.5012G>T	c.(5011-5013)GGG>GTG	p.G1671V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1671					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTATCTATCCCTTCCAGGCG	0.393000												
HERC2	8924	broad.mit.edu	37	15	28510807	28510807	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:28510807C>T	uc001zbj.2	-	14	1933	c.1827G>A	c.(1825-1827)GCG>GCA	p.A609A	HERC2_uc001zbl.1_Silent_p.A304A	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	609	RCC1 2.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACTCCCACACGCCACATCGA	0.587000												
SCG5	6447	broad.mit.edu	37	15	32988792	32988792	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:32988792G>A	uc001zha.2	+	6	738	c.621G>A	c.(619-621)GAG>GAA	p.E207E	SCG5_uc001zgz.2_Silent_p.E206E	NM_001144757	NP_001138229	P05408	7B2_HUMAN	secretogranin V isoform 1	207					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding				0		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		TTTCAGATGAGGATAAGGATC	0.418000												
RYR3	6263	broad.mit.edu	37	15	34072445	34072445	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:34072445G>A	uc001zhi.2	+	65	9241	c.9171G>A	c.(9169-9171)TCG>TCA	p.S3057S	RYR3_uc010bar.2_Silent_p.S3057S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3057	Helical; Name=M''; (Potential).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCTGGCCTCGCTGGCAGCTG	0.562000												
C15orf52	388115	broad.mit.edu	37	15	40630070	40630070	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:40630070G>A	uc001zlh.3	-	6	686	c.670C>T	c.(670-672)CCG>TCG	p.P224S	C15orf52_uc001zli.1_Missense_Mutation_p.P156S|C15orf52_uc010ucn.1_Missense_Mutation_p.P14S	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	224										large_intestine(1)	1		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCCCCCACCGGCCGGCTCCAG	0.677000												
DNAJC17	55192	broad.mit.edu	37	15	41066555	41066555	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:41066555G>A	uc001zms.1	-	9	691	c.680C>T	c.(679-681)GCG>GTG	p.A227V	DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	227	RRM.				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGCACTCACCGCTGCCTTGAC	0.587000												
DLL4	54567	broad.mit.edu	37	15	41227195	41227195	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:41227195G>A	uc001zng.1	+	8	1440	c.1120G>A	c.(1120-1122)GGG>AGG	p.G374R		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	374	EGF-like 5.|Extracellular (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		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)		CTGCTTCAATGGGGGCTCCTG	0.612000												
MGA	23269	broad.mit.edu	37	15	42042288	42042288	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:42042288G>A	uc010ucy.1	+	17	6664	c.6483G>A	c.(6481-6483)AAG>AAA	p.K2161K	MGA_uc010ucz.1_Silent_p.K1952K|MGA_uc010uda.1_Silent_p.K777K|MGA_uc001zoi.2_Silent_p.K375K	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2122	Basic motif.					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)		CCAAAGAGAAGGAATGTGGAG	0.428000												
MAPKBP1	23005	broad.mit.edu	37	15	42116010	42116010	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:42116010C>T	uc001zok.3	+	30	4268	c.3982C>T	c.(3982-3984)CCT>TCT	p.P1328S	MAPKBP1_uc001zoj.3_Missense_Mutation_p.P1322S|MAPKBP1_uc010bcj.2_Missense_Mutation_p.P829S|MAPKBP1_uc010bci.2_Intron|MAPKBP1_uc010udb.1_Missense_Mutation_p.P1161S|MAPKBP1_uc010bck.2_Missense_Mutation_p.P539S|MAPKBP1_uc010bcl.2_Missense_Mutation_p.P829S	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	1328										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)		GGCAGAAAAGCCTGGCTTCCC	0.617000												
SPTBN5	51332	broad.mit.edu	37	15	42160736	42160736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:42160736G>A	uc001zos.2	-	33	6145	c.5812C>T	c.(5812-5814)CAA>TAA	p.Q1938*	hsa-mir-4310|MI0015840_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1973	Spectrin 16.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTAGGCTCTTGCGAACTCTCC	0.701000												
GANC	2595	broad.mit.edu	37	15	42570682	42570682	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:42570682G>A	uc001zpi.2	+	3	409	c.95G>A	c.(94-96)CGT>CAT	p.R32H	GANC_uc001zph.2_Missense_Mutation_p.R32H|GANC_uc001zpj.1_5'UTR|GANC_uc010ude.1_Missense_Mutation_p.R32H	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	32					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ATCTATAGGCGTCAGAAACAG	0.378000												
ZFP106	64397	broad.mit.edu	37	15	42717097	42717097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:42717097C>T	uc001zpw.2	-	13	5391	c.5056G>A	c.(5056-5058)GAT>AAT	p.D1686N	ZFP106_uc001zpu.2_Missense_Mutation_p.D784N|ZFP106_uc001zpv.2_Missense_Mutation_p.D871N|ZFP106_uc001zpx.2_Missense_Mutation_p.D914N	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1686	WD 3.					nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TTCCGGGCATCGCGTACACTA	0.537000												
DUOX2	50506	broad.mit.edu	37	15	45401073	45401073	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:45401073G>T	uc010bea.2	-	12	1515	c.1312C>A	c.(1312-1314)CTG>ATG	p.L438M	DUOX2_uc001zun.2_Missense_Mutation_p.L438M	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	438	Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TAGCTGGGCAGCCCCATATCT	0.557000												
WDR72	256764	broad.mit.edu	37	15	53992122	53992122	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:53992122A>G	uc002acj.2	-	13	1632	c.1590T>C	c.(1588-1590)ATT>ATC	p.I530I	WDR72_uc010bfi.1_Silent_p.I530I	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	530	WD 7.									lung(1)|skin(1)	2				all cancers(107;0.0511)		ACACACAGCAAATTATCTGCT	0.433000												
ZNF280D	54816	broad.mit.edu	37	15	56974620	56974620	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:56974620G>C	uc002adu.2	-	10	1053	c.836C>G	c.(835-837)TCA>TGA	p.S279*	ZNF280D_uc002adv.2_Nonsense_Mutation_p.S266*|ZNF280D_uc010bfq.2_Nonsense_Mutation_p.S279*|ZNF280D_uc002adw.1_Nonsense_Mutation_p.S307*|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TACTGTACTTGAAAATTCTGT	0.284000												
GCOM1	145781	broad.mit.edu	37	15	57918078	57918078	+	Silent	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:57918078C>A	uc002aei.2	+	5	632	c.513C>A	c.(511-513)TCC>TCA	p.S171S	GCOM1_uc002aej.2_Silent_p.S171S|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_Intron|GCOM1_uc002aem.2_Silent_p.S171S|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Silent_p.S171S|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	171					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1						CATCAGATTCCATTGGCCTGC	0.478000												
ALDH1A2	8854	broad.mit.edu	37	15	58287308	58287308	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:58287308C>T	uc002aex.2	-	5	581	c.523G>A	c.(523-525)GAA>AAA	p.E175K	ALDH1A2_uc002aey.2_Missense_Mutation_p.E175K|ALDH1A2_uc010ugv.1_Missense_Mutation_p.E154K|ALDH1A2_uc010ugw.1_Missense_Mutation_p.E146K|ALDH1A2_uc002aew.2_Missense_Mutation_p.E79K	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	175					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCAATGGGTTCATGTCTTGTA	0.383000												
ALDH1A2	8854	broad.mit.edu	37	15	58357786	58357786	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:58357786C>T	uc002aex.2	-	1	121	c.63G>A	c.(61-63)GCG>GCA	p.A21A	ALDH1A2_uc002aey.2_Silent_p.A21A|ALDH1A2_uc010ugv.1_5'UTR|ALDH1A2_uc010ugw.1_Intron	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	21					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGTGCAGCGACGCCATGAGGG	0.667000												
HERC1	8925	broad.mit.edu	37	15	63966684	63966684	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:63966684C>T	uc002amp.2	-	38	7851	c.7703G>A	c.(7702-7704)CGA>CAA	p.R2568Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2568					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CACCATGTGTCGCATCAAGAA	0.488000												
STRA6	64220	broad.mit.edu	37	15	74473191	74473191	+	Missense_Mutation	SNP	G	G	A	rs140894233		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:74473191G>A	uc002axk.2	-	18	1954	c.1772C>T	c.(1771-1773)GCG>GTG	p.A591V	STRA6_uc002axi.2_Missense_Mutation_p.A400V|STRA6_uc010ulh.1_Missense_Mutation_p.A629V|STRA6_uc002axj.2_Missense_Mutation_p.A630V|STRA6_uc010bji.2_Missense_Mutation_p.A591V|STRA6_uc002axl.2_Missense_Mutation_p.A523V|STRA6_uc002axm.2_Missense_Mutation_p.A591V|STRA6_uc002axn.2_Missense_Mutation_p.A582V|STRA6_uc010uli.1_Missense_Mutation_p.A628V	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	591	Cytoplasmic (Potential).				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1						GAGGCTCTGCGCTTGCAGGAG	0.607000												
CLK3	1198	broad.mit.edu	37	15	74912421	74912421	+	Missense_Mutation	SNP	G	G	A	rs146329671		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:74912421G>A	uc010uln.1	+	3	1129	c.668G>A	c.(667-669)CGG>CAG	p.R223Q	CLK3_uc002ayg.3_Missense_Mutation_p.R75Q|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R223Q|CLK3_uc002ayj.3_Missense_Mutation_p.R75Q|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	223	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						TGTGAAGAGCGGAGCCCATCC	0.632000												
MAN2C1	4123	broad.mit.edu	37	15	75649170	75649170	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:75649170C>G	uc002baf.2	-	22	2638	c.2621G>C	c.(2620-2622)GGC>GCC	p.G874A	MAN2C1_uc002bag.2_Missense_Mutation_p.G874A|MAN2C1_uc002bah.2_Missense_Mutation_p.G891A|MAN2C1_uc010bkk.2_Missense_Mutation_p.G775A	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	874					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						CACTGACGCGCCATACTTGCA	0.607000												
CSPG4	1464	broad.mit.edu	37	15	75980305	75980305	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:75980305C>T	uc002baw.2	-	3	3194	c.3101G>A	c.(3100-3102)CGG>CAG	p.R1034Q		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1034	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 6.|Interaction with COL6A2 (By similarity).				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						CAGCAGCCGCCGCCCACCCCG	0.642000												
CSPG4	1464	broad.mit.edu	37	15	75980366	75980366	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:75980366C>T	uc002baw.2	-	3	3133	c.3040G>A	c.(3040-3042)GTG>ATG	p.V1014M		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1014	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL6A2 (By similarity).				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						TGGTCATTCACGGGCTGGATG	0.627000												
FBXO22	26263	broad.mit.edu	37	15	76225165	76225165	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:76225165G>A	uc002bbk.2	+	7	1039	c.934G>A	c.(934-936)GCC>ACC	p.A312T	FBXO22_uc002bbl.2_Missense_Mutation_p.A208T|FBXO22OS_uc002bbm.1_RNA	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	312					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						CCTCAAAGCGGCCAACATTCC	0.522000												
C15orf27	123591	broad.mit.edu	37	15	76430103	76430103	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:76430103G>A	uc002bbq.2	+	3	249	c.94G>A	c.(94-96)GAA>AAA	p.E32K	C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	32						integral to membrane					0						ACAAGTAGACGAAGAAACCAA	0.532000												
ISL2	64843	broad.mit.edu	37	15	76632885	76632885	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:76632885G>A	uc002bbw.1	+	4	858	c.780G>A	c.(778-780)CAG>CAA	p.Q260Q		NM_145805	NP_665804	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	260						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGCAGCAGCAGCACAGCGACA	0.647000												
TBC1D2B	23102	broad.mit.edu	37	15	78295700	78295700	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:78295700C>T	uc002bcy.3	-	11	2521	c.2521G>A	c.(2521-2523)GTT>ATT	p.V841I	TBC1D2B_uc010bla.2_Missense_Mutation_p.V841I|TBC1D2B_uc002bda.2_Missense_Mutation_p.V293I	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B isoform a	841	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)|large_intestine(1)|breast(1)	3						ATGTCACTAACGACACTATCC	0.423000												
TMED3	23423	broad.mit.edu	37	15	79603625	79603625	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:79603625C>T	uc002beu.2	+	1	135	c.34C>T	c.(34-36)CTG>TTG	p.L12L	TMED3_uc010unj.1_Silent_p.L12L|TMED3_uc002bev.2_RNA	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 domain containing 3	12					protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				ovary(1)|skin(1)	2						CGCCTCCGTGCTGCTTCTGCT	0.736000												
KIAA1024	23251	broad.mit.edu	37	15	79748713	79748713	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:79748713A>G	uc002bew.1	+	2	299	c.224A>G	c.(223-225)AAC>AGC	p.N75S	KIAA1024_uc010unk.1_Missense_Mutation_p.N75S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	75						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						ACTGTGAATAACCAGCAATCA	0.473000												
FAM108C1	58489	broad.mit.edu	37	15	81046586	81046586	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:81046586G>A	uc002bfu.2	+	3	984	c.865G>A	c.(865-867)GAG>AAG	p.E289K	FAM108C1_uc002bft.2_Missense_Mutation_p.E248K	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN	hypothetical protein LOC58489	289							hydrolase activity				0						AGCGATGTACGAGCGCTGTCC	0.483000												
EFTUD1	79631	broad.mit.edu	37	15	82443816	82443816	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:82443816A>G	uc002bgt.1	-	18	3148	c.2979T>C	c.(2977-2979)GGT>GGC	p.G993G	EFTUD1_uc002bgs.1_Silent_p.G364G|EFTUD1_uc002bgu.1_Silent_p.G942G	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	993					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						CGAGAACATCACCAGTGGCCA	0.408000												
AKAP13	11214	broad.mit.edu	37	15	86286871	86286871	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:86286871G>T	uc002blv.1	+	36	8377	c.8207G>T	c.(8206-8208)CGG>CTG	p.R2736L	AKAP13_uc002blu.1_Missense_Mutation_p.R2740L|AKAP13_uc002blw.1_Missense_Mutation_p.R1201L|AKAP13_uc002blx.1_Missense_Mutation_p.R981L	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2736	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AGCATCTCTCGGACACACAAA	0.542000												
DET1	55070	broad.mit.edu	37	15	89074383	89074383	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:89074383C>T	uc002bmr.2	-	2	706	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.R196Q	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	185						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TAGAGGGGACCGTGGGTTGGG	0.527000												
ZNF710	374655	broad.mit.edu	37	15	90611774	90611774	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:90611774G>A	uc002bov.1	+	2	1528	c.1405G>A	c.(1405-1407)GGC>AGC	p.G469S		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	469	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CACTGAATGCGGCATGGAGTT	0.602000												
SLCO3A1	28232	broad.mit.edu	37	15	92459652	92459652	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:92459652G>A	uc002bqx.2	+	2	811	c.610G>A	c.(610-612)GAC>AAC	p.D204N	SLCO3A1_uc002bqy.2_Missense_Mutation_p.D204N|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.D146N	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	204	Cytoplasmic (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)			CTACATCGACGACCACGTGCG	0.587000												
PDIA2	64714	broad.mit.edu	37	16	334505	334505	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:334505C>T	uc002cgn.1	+	7	1426	c.318C>T	c.(316-318)CGC>CGT	p.R106R	PDIA2_uc010bqt.1_5'UTR|PDIA2_uc002cgo.1_Silent_p.R106R	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	106	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCGCGCAGCGCGAGCTGGCTG	0.662000												
DECR2	26063	broad.mit.edu	37	16	461481	461481	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:461481C>T	uc002chb.2	+	8	888	c.782C>T	c.(781-783)ACG>ATG	p.T261M	DECR2_uc002chc.2_Missense_Mutation_p.T177M|DECR2_uc010bqv.2_Missense_Mutation_p.T177M|DECR2_uc002chd.2_Missense_Mutation_p.T177M|DECR2_uc002che.1_RNA	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2	261						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding				0		Hepatocellular(16;0.00015)				TCCTACGTGACGGGGGCCGTG	0.632000												
STUB1	10273	broad.mit.edu	37	16	731592	731592	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:731592G>A	uc002cit.2	+	3	924	c.513G>A	c.(511-513)GCG>GCA	p.A171A	STUB1_uc002ciu.2_Silent_p.A99A|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	171					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				TCATTGCCGCGGAGCGTGAGA	0.587000												
WDR24	84219	broad.mit.edu	37	16	735692	735692	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:735692C>T	uc002ciz.1	-	6	2425	c.1665G>A	c.(1663-1665)CCG>CCA	p.P555P	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	685										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				GCGCGTGTTCCGGATCCAGCA	0.657000												
CHTF18	63922	broad.mit.edu	37	16	840569	840569	+	Missense_Mutation	SNP	C	C	A	rs150535361	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:840569C>A	uc002cke.3	+	7	860	c.797C>A	c.(796-798)CCT>CAT	p.P266H	RPUSD1_uc002cka.2_5'Flank|RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_Silent_p.P271P|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.P294H|CHTF18_uc010brf.2_Translation_Start_Site|CHTF18_uc002ckg.3_Translation_Start_Site	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	266					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.P266L(1)		kidney(1)	1		Hepatocellular(780;0.00335)				TTGGGGGCCCCTGAGGAGGAG	0.642000												
TBL3	10607	broad.mit.edu	37	16	2025196	2025196	+	Missense_Mutation	SNP	G	G	A	rs147036287		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:2025196G>A	uc002cnu.1	+	8	746	c.644G>A	c.(643-645)CGT>CAT	p.R215H	TBL3_uc002cnv.1_Missense_Mutation_p.R101H|TBL3_uc010bsb.1_Intron|TBL3_uc010bsc.1_Missense_Mutation_p.R101H|TBL3_uc010uvt.1_Translation_Start_Site|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	215	WD 4.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						AGCTCCGGCCGTGACAAGATA	0.607000												
TBC1D24	57465	broad.mit.edu	37	16	2546755	2546755	+	Silent	SNP	G	G	A	rs61731478		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:2546755G>A	uc002cql.2	+	2	746	c.606G>A	c.(604-606)TCG>TCA	p.S202S	TBC1D24_uc002cqk.2_Silent_p.S202S|TBC1D24_uc002cqm.2_Silent_p.S202S|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	202	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						TGGCCGTGTCGGAGGATGTCC	0.617000												
SRRM2	23524	broad.mit.edu	37	16	2809396	2809396	+	Nonsense_Mutation	SNP	C	C	T	rs138293757		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:2809396C>T	uc002crk.2	+	8	1282	c.733C>T	c.(733-735)CGA>TGA	p.R245*	SRRM2_uc002crj.1_Nonsense_Mutation_p.R149*|SRRM2_uc002crl.1_Nonsense_Mutation_p.R245*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.R149*	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	245	Sufficient for RNA-binding.|Lys-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GGACAAAAAGCGAAAGCGGTG	0.408000												
PAQR4	124222	broad.mit.edu	37	16	3021597	3021597	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:3021597C>T	uc002csj.3	+	3	804	c.470C>T	c.(469-471)TCG>TTG	p.S157L	PAQR4_uc002csk.3_Missense_Mutation_p.S118L|PAQR4_uc002csl.3_Missense_Mutation_p.S83L|PAQR4_uc010uwm.1_Missense_Mutation_p.S88L	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	157	Helical; (Potential).					integral to membrane	receptor activity				0						ACTGTGTTGTCGGGTGTGGCC	0.687000												
ZSCAN10	84891	broad.mit.edu	37	16	3139113	3139113	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:3139113G>A	uc002ctv.1	-	5	2245	c.2157C>T	c.(2155-2157)CAC>CAT	p.H719H	ZSCAN10_uc002cty.1_Silent_p.H380H|ZSCAN10_uc002ctw.1_Silent_p.H637H|ZSCAN10_uc002ctx.1_Silent_p.H647H	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	719	C2H2-type 14.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TCTCGCGGGCGTGGGTGCGCA	0.711000												
ZNF263	10127	broad.mit.edu	37	16	3339480	3339480	+	Missense_Mutation	SNP	G	G	A	rs79713839	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:3339480G>A	uc002cuq.2	+	6	1306	c.974G>A	c.(973-975)CGA>CAA	p.R325Q	ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	325					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						GACCAGGCCCGAGGGGAGGTG	0.597000												
HMOX2	3163	broad.mit.edu	37	16	4555534	4555534	+	Silent	SNP	G	G	A	rs143511999	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:4555534G>A	uc010bts.2	+	2	180	c.9G>A	c.(7-9)GCG>GCA	p.A3A	HMOX2_uc002cwr.3_Silent_p.A3A|HMOX2_uc002cwq.3_Silent_p.A3A|HMOX2_uc002cws.3_Silent_p.A57A|HMOX2_uc010btt.2_Silent_p.A3A|HMOX2_uc002cwt.2_Silent_p.A3A	NM_001127206	NP_001120678	P30519	HMOX2_HUMAN	heme oxygenase (decyclizing) 2	3					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding				0					NADH(DB00157)	CAATGTCAGCGGAAGTGGAAA	0.567000												
GLYR1	84656	broad.mit.edu	37	16	4861191	4861191	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:4861191T>C	uc002cxx.3	-	15	1604	c.1567A>G	c.(1567-1569)ATG>GTG	p.M523V	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.M437V|GLYR1_uc002cya.2_Missense_Mutation_p.M517V|GLYR1_uc010uxv.1_Missense_Mutation_p.M442V	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	523					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						GCAGCTGCCATGGGAGTCGGA	0.418000												
MYH11	4629	broad.mit.edu	37	16	15797971	15797971	+	Silent	SNP	G	G	A	rs149529195	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:15797971G>A	uc002ddy.2	-	41	5903	c.5796C>T	c.(5794-5796)AAC>AAT	p.N1932N	MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Silent_p.N1939N|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1932	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						AAGAGGTCTCGTTTCCTCGCC	0.393000			T	CBFB	AML							
ABCC6	368	broad.mit.edu	37	16	16263538	16263538	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:16263538C>T	uc002den.3	-	22	2997	c.2960G>A	c.(2959-2961)CGT>CAT	p.R987H	ABCC6_uc010bvo.2_RNA	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	987	ABC transmembrane type-1 2.|Extracellular (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GATCCCGCCACGCAGGGCTGC	0.667000												
UMOD	7369	broad.mit.edu	37	16	20357449	20357449	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:20357449G>A	uc002dgz.2	-	5	1310	c.1181C>T	c.(1180-1182)ACG>ATG	p.T394M	UMOD_uc002dha.2_Missense_Mutation_p.T394M|UMOD_uc002dhb.2_Missense_Mutation_p.T427M	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	394	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2						AGGACGTACCGTCAACACTGT	0.398000												
ACSM3	6296	broad.mit.edu	37	16	20796389	20796389	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:20796389C>T	uc002dhr.2	+	8	1290	c.1103C>T	c.(1102-1104)ACG>ATG	p.T368M	ACSM3_uc002dhq.2_Missense_Mutation_p.T368M|ACSM3_uc010vba.1_Missense_Mutation_p.T397M|ERI2_uc002dhs.2_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	368					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1						AGAAACAAGACGGGCCTGGAT	0.423000												
DNAH3	55567	broad.mit.edu	37	16	21117878	21117878	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:21117878T>C	uc010vbe.1	-	15	2217	c.2217A>G	c.(2215-2217)AAA>AAG	p.K739K	DNAH3_uc002die.2_Silent_p.K679K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	739	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCCTCCTGAGTTTGAACACAG	0.483000												
PRKCB	5579	broad.mit.edu	37	16	24185846	24185846	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:24185846G>A	uc002dmd.2	+	12	1536	c.1339G>A	c.(1339-1341)GCT>ACT	p.A447T	PRKCB_uc002dme.2_Missense_Mutation_p.A447T	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	447	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	CAGATTTTACGCTGCAGAAAT	0.393000												
RBBP6	5930	broad.mit.edu	37	16	24580149	24580149	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:24580149G>A	uc002dmh.2	+	17	3178	c.2138G>A	c.(2137-2139)CGC>CAC	p.R713H	RBBP6_uc010vcb.1_Missense_Mutation_p.R580H|RBBP6_uc002dmi.2_Missense_Mutation_p.R679H|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.R546H	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	713					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		ACACGTTCACGCTCTTATTCT	0.418000												
RBBP6	5930	broad.mit.edu	37	16	24583099	24583099	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:24583099A>C	uc002dmh.2	+	18	5752	c.4712A>C	c.(4711-4713)AAG>ACG	p.K1571T	RBBP6_uc002dmi.2_Missense_Mutation_p.K1537T|RBBP6_uc010bxr.2_Missense_Mutation_p.K731T|RBBP6_uc002dmk.2_Missense_Mutation_p.K1404T	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1571					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GATCGTGAGAAGCATGTATTA	0.358000												
TUFM	7284	broad.mit.edu	37	16	28855746	28855746	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:28855746C>T	uc002drh.2	-	6	950	c.811G>A	c.(811-813)GTC>ATC	p.V271I	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	268						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1						TCACCAGGGACGGAGTACACC	0.602000												
ITGAL	3683	broad.mit.edu	37	16	30507511	30507511	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:30507511G>A	uc002dyi.3	+	14	1773	c.1597G>A	c.(1597-1599)GGC>AGC	p.G533S	ITGAL_uc002dyj.3_Missense_Mutation_p.G450S|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	533	Potential.|FG-GAP 6.|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)	AGACATCAACGGCGATGGGCT	0.617000												
ZNF785	146540	broad.mit.edu	37	16	30594406	30594406	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:30594406G>A	uc002dyw.1	-	3	771	c.693C>T	c.(691-693)CCC>CCT	p.P231P	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Silent_p.P216P|ZNF785_uc010vez.1_Silent_p.P196P	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	231	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCCCGCAGTCGGGGCAGGGGT	0.667000												
HSD3B7	80270	broad.mit.edu	37	16	30999391	30999391	+	Missense_Mutation	SNP	G	G	A	rs143419053		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:30999391G>A	uc002eaf.2	+	7	1103	c.997G>A	c.(997-999)GTC>ATC	p.V333I	HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Missense_Mutation_p.V333I	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	333					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						CACCTTCACCGTCAGCACCGA	0.642000												
TRIM72	493829	broad.mit.edu	37	16	31235536	31235536	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:31235536G>A	uc002ebn.1	+	7	1123	c.894G>A	c.(892-894)GCG>GCA	p.A298A	uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	298	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						CGAGCTCTGCGCACCCGAGCC	0.662000												
ITFG1	81533	broad.mit.edu	37	16	47294490	47294490	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:47294490G>A	uc002eet.2	-	11	1249	c.1187C>T	c.(1186-1188)GCC>GTC	p.A396V	ITFG1_uc010vgg.1_Missense_Mutation_p.A141V|ITFG1_uc010vgh.1_Missense_Mutation_p.A283V	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	396						extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GGCAACCATGGCATCCTTAAT	0.433000												
LONP2	83752	broad.mit.edu	37	16	48337105	48337105	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:48337105C>T	uc002efi.1	+	11	1773	c.1684C>T	c.(1684-1686)CGT>TGT	p.R562C	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.R518C	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	562					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						GGCAGGGGTTCGTTCTCTGGA	0.413000												
ZNF423	23090	broad.mit.edu	37	16	49671946	49671946	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:49671946C>T	uc002efs.2	-	5	1415	c.1117G>A	c.(1117-1119)GAC>AAC	p.D373N	ZNF423_uc010vgn.1_Missense_Mutation_p.D256N	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	373					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GCGCTGGAGTCGGGTGTGGCG	0.677000												
ZNF423	23090	broad.mit.edu	37	16	49672418	49672418	+	Silent	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:49672418G>T	uc002efs.2	-	5	943	c.645C>A	c.(643-645)ACC>ACA	p.T215T	ZNF423_uc010vgn.1_Silent_p.T98T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	215	C2H2-type 4.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TGGAGCTGTGGGTCTTCAGGT	0.592000												
ADCY7	113	broad.mit.edu	37	16	50325704	50325704	+	Missense_Mutation	SNP	C	C	T	rs141967597		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:50325704C>T	uc002egd.1	+	3	701	c.433C>T	c.(433-435)CGG>TGG	p.R145W	ADCY7_uc002egb.1_Missense_Mutation_p.R145W|ADCY7_uc002egc.1_Missense_Mutation_p.R145W	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	145					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CTTCAGCATGCGGGGCGCTGT	0.632000												
NOD2	64127	broad.mit.edu	37	16	50745284	50745284	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:50745284T>C	uc002egm.1	+	4	1567	c.1462T>C	c.(1462-1464)TTC>CTC	p.F488L	NOD2_uc010cbk.1_Missense_Mutation_p.F461L|NOD2_uc002egl.1_Missense_Mutation_p.F266L|NOD2_uc010cbl.1_Missense_Mutation_p.F266L|NOD2_uc010cbm.1_Missense_Mutation_p.F266L|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	488	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				CCTGCCTGTCTTCTCATGGAT	0.587000												
CHD9	80205	broad.mit.edu	37	16	53272439	53272439	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:53272439G>T	uc002ehb.2	+	11	2982	c.2818G>T	c.(2818-2820)GGG>TGG	p.G940W	CHD9_uc002egy.2_Missense_Mutation_p.G940W|CHD9_uc002eha.1_Missense_Mutation_p.G940W|CHD9_uc002ehc.2_Missense_Mutation_p.G940W|CHD9_uc002ehf.2_Missense_Mutation_p.G54W|CHD9_uc002ehd.2_Missense_Mutation_p.G466W|CHD9_uc002ehe.1_Missense_Mutation_p.G54W	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	940	Helicase ATP-binding.				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)				GGTTTATCATGGGAGCCTGAT	0.388000												
IRX6	79190	broad.mit.edu	37	16	55363164	55363164	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:55363164C>T	uc002ehy.2	+	5	1807	c.1274C>T	c.(1273-1275)GCG>GTG	p.A425V	IRX6_uc002ehx.2_Missense_Mutation_p.A425V	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	425						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CTGAACTGTGCGCCGTGCCCG	0.617000												
NLRC5	84166	broad.mit.edu	37	16	57092032	57092032	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:57092032C>T	uc002ekk.1	+	28	4027	c.3802C>T	c.(3802-3804)CCG>TCG	p.P1268S	NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Missense_Mutation_p.P1072S|NLRC5_uc002ekm.2_Missense_Mutation_p.P1042S|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Missense_Mutation_p.P183S|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.P155S	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1268					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GGAATGTCTGCCGCAGGTGCC	0.577000												
GPR56	9289	broad.mit.edu	37	16	57687898	57687898	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:57687898G>A	uc002emb.2	+	6	913	c.621G>A	c.(619-621)CAG>CAA	p.Q207Q	GPR56_uc002elz.1_Silent_p.Q37Q|GPR56_uc002ema.1_Silent_p.Q32Q|GPR56_uc002emc.2_Silent_p.Q207Q|GPR56_uc002emf.2_Silent_p.Q207Q|GPR56_uc010vhs.1_Silent_p.Q207Q|GPR56_uc002emd.2_Silent_p.Q207Q|GPR56_uc002eme.2_Silent_p.Q207Q|GPR56_uc010vht.1_Silent_p.Q212Q|GPR56_uc002emg.3_Silent_p.Q207Q|GPR56_uc010vhu.1_Silent_p.Q32Q	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	207	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						TCCCTGCCAGGCAGTTGCAGA	0.552000												
CDH8	1006	broad.mit.edu	37	16	61689517	61689517	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:61689517C>T	uc002eog.1	-	11	2015	c.1763G>A	c.(1762-1764)AGC>AAC	p.S588N		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	588	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGTGCTAGTGCTGCTCAGTGG	0.453000												
EXOC3L	283849	broad.mit.edu	37	16	67221273	67221273	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:67221273G>T	uc002erx.1	-	5	1136	c.895C>A	c.(895-897)CCG>ACG	p.P299T	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.P243T|EXOC3L_uc010vje.1_Missense_Mutation_p.P238T	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	299	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		TACTGTGGCGGGCAGCAAGGC	0.652000												
AGRP	181	broad.mit.edu	37	16	67517002	67517002	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:67517002G>A	uc002etg.1	-	3	442	c.142C>T	c.(142-144)CGG>TGG	p.R48W	ATP6V0D1_uc002ete.1_5'Flank|ATP6V0D1_uc010vjo.1_5'Flank	NM_001138	NP_001129	O00253	AGRP_HUMAN	agouti related protein homolog isoform 1	48					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity				0		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		AGTGGGGCCCGCAGGCCCAGG	0.592000												
RLTPR	146206	broad.mit.edu	37	16	67683500	67683500	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:67683500C>A	uc002etn.2	+	20	2017	c.1897C>A	c.(1897-1899)CTG>ATG	p.L633M	RLTPR_uc010cel.1_Missense_Mutation_p.L626M|RLTPR_uc010vjr.1_Missense_Mutation_p.L597M	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	633	Tropomodulin-like.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGCCAAGGCGCTGCGGGTCAA	0.706000												
GFOD2	81577	broad.mit.edu	37	16	67709348	67709348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:67709348C>A	uc002eub.2	-	3	1163	c.868G>T	c.(868-870)GGA>TGA	p.G290*	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Nonsense_Mutation_p.G185*	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	290						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCAGGCAGTCCTGCGCCCACT	0.662000												
NFATC3	4775	broad.mit.edu	37	16	68191771	68191771	+	Splice_Site	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:68191771G>A	uc002evo.1	+	4	1612	c.1402_splice	c.e4-1	p.L468_splice	NFATC3_uc010vkl.1_Splice_Site|NFATC3_uc010vkm.1_Splice_Site|NFATC3_uc010vkn.1_Splice_Site|NFATC3_uc010vko.1_Splice_Site|NFATC3_uc010vkp.1_Splice_Site|NFATC3_uc010vkq.1_Splice_Site|NFATC3_uc002evl.2_Splice_Site|NFATC3_uc002evk.2_Splice_Site_p.L468_splice|NFATC3_uc002evm.1_Splice_Site_p.L468_splice|NFATC3_uc002evn.1_Splice_Site_p.L468_splice|NFATC3_uc010vkr.1_Splice_Site|NFATC3_uc010vks.1_Splice_Site|NFATC3_uc010vkt.1_Splice_Site|NFATC3_uc010vku.1_Splice_Site|NFATC3_uc010vkv.1_Splice_Site|NFATC3_uc010vkw.1_Splice_Site|NFATC3_uc010vkx.1_Splice_Site|NFATC3_uc010vky.1_Splice_Site|NFATC3_uc010vkz.1_Splice_Site|NFATC3_uc010vla.1_Splice_Site|NFATC3_uc010vlb.1_Splice_Site|NFATC3_uc010vlc.1_Splice_Site	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,						inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TTCCTGATTAGCTCCTGGGCT	0.338000												
NOB1	28987	broad.mit.edu	37	16	69786254	69786254	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:69786254T>C	uc002exs.2	-	3	233	c.217A>G	c.(217-219)ACA>GCA	p.T73A		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	73	PINc.					nucleus	metal ion binding|protein binding				0						TAGTCTCCTGTTTTCTTTGAA	0.423000												
MTSS1L	92154	broad.mit.edu	37	16	70708296	70708296	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:70708296G>A	uc002ezj.2	-	11	1226	c.966C>T	c.(964-966)AGC>AGT	p.S322S		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	322	Ser-rich.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						GGGAGGAAACGCTGGAGAGGC	0.652000												
CHST6	4166	broad.mit.edu	37	16	75513450	75513450	+	Missense_Mutation	SNP	G	G	A	rs121917826		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:75513450G>A	uc002fef.2	-	3	457	c.277C>T	c.(277-279)CGC>TGC	p.R93C	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R93C	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	93	Lumenal (Potential).		R -> H (in MCD).		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						ACCAGGTCGCGCACAGCCATG	0.642000												
CDYL2	124359	broad.mit.edu	37	16	80666968	80666968	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:80666968G>A	uc002ffs.2	-	3	887	c.782C>T	c.(781-783)ACG>ATG	p.T261M		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	261						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						CAGGATGTGCGTGAACCCTTC	0.547000												
PKD1L2	114780	broad.mit.edu	37	16	81155214	81155214	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:81155214G>A	uc002fgh.1	-	40	6589	c.6589C>T	c.(6589-6591)CTC>TTC	p.L2197F	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2197	Helical; (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TAGTAGAGGAGGAAGAGGAAG	0.602000												
PKD1L2	114780	broad.mit.edu	37	16	81155261	81155261	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:81155261C>T	uc002fgh.1	-	40	6542	c.6542G>A	c.(6541-6543)GGC>GAC	p.G2181D	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2181	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGGGTGCCAGCCGTCGGTGAA	0.597000												
JPH3	57338	broad.mit.edu	37	16	87636864	87636864	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:87636864G>A	uc002fkd.2	+	1	366	c.112G>A	c.(112-114)GAA>AAA	p.E38K	JPH3_uc010vou.1_Intron	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	38	Gly-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GGGCCAAGGCGAATACACCGG	0.672000												
APRT	353	broad.mit.edu	37	16	88876484	88876484	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:88876484T>C	uc002flv.2	-	4	429	c.394A>G	c.(394-396)ACT>GCT	p.T132A	APRT_uc002flw.2_Missense_Mutation_p.T132A	NM_000485	NP_000476	P07741	APT_HUMAN	adenine phosphoribosyltransferase isoform a	132					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	TTACCACCAGTGGCCAGCAGA	0.612000												
ANKRD11	29123	broad.mit.edu	37	16	89352563	89352563	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:89352563T>C	uc002fmx.1	-	8	1237	c.776A>G	c.(775-777)AAC>AGC	p.N259S	ANKRD11_uc002fmy.1_Missense_Mutation_p.N259S|ANKRD11_uc002fnc.1_Missense_Mutation_p.N259S|ANKRD11_uc002fnb.1_Missense_Mutation_p.N216S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	259	ANK 3.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCTGCGGGTTCCCTCCGTA	0.577000												
RPH3AL	9501	broad.mit.edu	37	17	97063	97063	+	Missense_Mutation	SNP	G	G	A	rs144718442		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:97063G>A	uc002frd.1	-	5	496	c.452C>T	c.(451-453)TCG>TTG	p.S151L	RPH3AL_uc010vpy.1_Missense_Mutation_p.S151L|RPH3AL_uc002fre.1_Missense_Mutation_p.S151L|RPH3AL_uc002frf.1_Missense_Mutation_p.S122L|RPH3AL_uc010cjl.1_Missense_Mutation_p.S122L	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	151	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CCAGGCCCCCGACCTCTTCCA	0.637000												
HIC1	3090	broad.mit.edu	37	17	1961719	1961719	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:1961719G>A	uc010cjy.2	+	2	1792	c.1792G>A	c.(1792-1794)GGC>AGC	p.G598S	HIC1_uc002fty.3_Missense_Mutation_p.G579S|HIC1_uc002ftz.3_Missense_Mutation_p.G579S	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	598	C2H2-type 5.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		GGTGTGCGGCGGCAAGTTCGC	0.493000												
PAFAH1B1	5048	broad.mit.edu	37	17	2579901	2579901	+	Splice_Site	SNP	G	G	A	rs113994203		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:2579901G>A	uc002fuw.3	+	9	1570	c.1002_splice	c.e9+1	p.L334_splice	PAFAH1B1_uc010ckb.1_Intron|PAFAH1B1_uc010vqz.1_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,						acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1						TATGACCCTCGTAAGTTTGCA	0.368000												
MYBBP1A	10514	broad.mit.edu	37	17	4442961	4442961	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:4442961C>T	uc002fyb.3	-	26	3798	c.3736G>A	c.(3736-3738)GCC>ACC	p.A1246T	MYBBP1A_uc002fxz.3_Missense_Mutation_p.A1246T|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.3_Missense_Mutation_p.A191T|MYBBP1A_uc010vsa.1_Missense_Mutation_p.A288T	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	1246	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						GGGGATTTGGCAGGGGTGCTG	0.622000												
PLD2	5338	broad.mit.edu	37	17	4720531	4720531	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:4720531G>A	uc002fzc.2	+	17	1893	c.1792G>A	c.(1792-1794)GGA>AGA	p.G598R	PLD2_uc010vsj.1_Missense_Mutation_p.G455R|PLD2_uc002fzd.2_Missense_Mutation_p.G598R	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	598	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	CACACTTCCAGGAGGGCAGTG	0.597000												
ENO3	2027	broad.mit.edu	37	17	4860322	4860322	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:4860322C>T	uc002gab.3	+	12	1379	c.1285C>T	c.(1285-1287)CGT>TGT	p.R429C	ENO3_uc002gac.3_Missense_Mutation_p.R429C|ENO3_uc010vss.1_Missense_Mutation_p.R386C|ENO3_uc010vst.1_Missense_Mutation_p.R256C	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	429					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						ACGCAAGTTCCGTAACCCGAA	0.552000											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GPR172B	55065	broad.mit.edu	37	17	4937566	4937566	+	Missense_Mutation	SNP	G	G	A	rs137937212		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:4937566G>A	uc002gap.3	-	3	931	c.218C>T	c.(217-219)CCG>CTG	p.P73L	GPR172B_uc002gao.3_Missense_Mutation_p.P73L|GPR172B_uc010ckw.2_5'UTR|GPR172B_uc010ckx.2_Missense_Mutation_p.P73L	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	73						integral to plasma membrane	receptor activity|riboflavin transporter activity				0						GCCCTTGCCCGGGGCCAGCTG	0.662000												
USP6	9098	broad.mit.edu	37	17	5042569	5042569	+	Silent	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:5042569C>A	uc002gau.1	+	22	3328	c.1098C>A	c.(1096-1098)TCC>TCA	p.S366S	USP6_uc002gav.1_Silent_p.S366S|USP6_uc010ckz.1_Silent_p.S49S|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	366					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						AGCAAGGGTCCTTGGCACCCA	0.647000			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts							
NLRP1	22861	broad.mit.edu	37	17	5486064	5486064	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:5486064G>A	uc002gci.2	-	2	929	c.374C>T	c.(373-375)CCG>CTG	p.P125L	NLRP1_uc002gcg.1_Missense_Mutation_p.P125L|NLRP1_uc002gck.2_Missense_Mutation_p.P125L|NLRP1_uc002gcj.2_Missense_Mutation_p.P125L|NLRP1_uc002gcl.2_Missense_Mutation_p.P125L|NLRP1_uc002gch.3_Missense_Mutation_p.P125L|NLRP1_uc010clh.2_Missense_Mutation_p.P125L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	125					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				GCACCCCGCCGGCAATTCATG	0.617000												
EIF5A	1984	broad.mit.edu	37	17	7213109	7213109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:7213109G>A	uc010vtv.1	+	2	392	c.155G>A	c.(154-156)GGC>GAC	p.G52D	EIF5A_uc002gfr.2_Missense_Mutation_p.G82D|EIF5A_uc010vtu.1_Missense_Mutation_p.A42T|EIF5A_uc002gft.2_Missense_Mutation_p.G52D|EIF5A_uc002gfu.2_Missense_Mutation_p.G52D	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	52	DOHH-binding.			G->A: Causes total inactivation of eIF5A in supporting yeast growth.	induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding				0						GGCAAGCACGGCCACGCCAAG	0.537000												
NEURL4	84461	broad.mit.edu	37	17	7224553	7224553	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:7224553C>T	uc002gga.1	-	20	3245	c.3238G>A	c.(3238-3240)GGT>AGT	p.G1080S	NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.G1078S	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1080	NHR 5.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						ATTGACACACCGCGGACTGGC	0.577000												
ACAP1	9744	broad.mit.edu	37	17	7246793	7246793	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:7246793G>A	uc002ggd.2	+	6	646	c.440G>A	c.(439-441)CGC>CAC	p.R147H		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	147	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						GTTCCCAGGCGCCGGGCCCAG	0.682000												
GUCY2D	3000	broad.mit.edu	37	17	7915631	7915631	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:7915631G>C	uc002gjt.2	+	9	1993	c.1919G>C	c.(1918-1920)TGG>TCG	p.W640S		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	640	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				AAGCTGGACTGGATGTTCAAG	0.617000												
ARHGEF15	22899	broad.mit.edu	37	17	8224243	8224243	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:8224243C>T	uc002glc.2	+	16	2579	c.2458C>T	c.(2458-2460)CGC>TGC	p.R820C	ARHGEF15_uc002gld.2_Missense_Mutation_p.R820C|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R709C	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	820					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						GAGGCACCTTCGCCAGAACCA	0.612000												
MYH10	4628	broad.mit.edu	37	17	8409746	8409746	+	Silent	SNP	G	G	A	rs138732743	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:8409746G>A	uc002gll.2	-	25	3279	c.3183C>T	c.(3181-3183)GAC>GAT	p.D1061D	MYH10_uc002glm.2_Silent_p.D1092D|MYH10_uc010cnx.2_Silent_p.D1070D	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1061	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TCGTCTCCCCGTCGAGTTTTC	0.527000												
MYH10	4628	broad.mit.edu	37	17	8508243	8508243	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:8508243A>C	uc002gll.2	-	3	499	c.403T>G	c.(403-405)TCT>GCT	p.S135A	MYH10_uc002glm.2_Missense_Mutation_p.S135A|MYH10_uc010cnx.2_Missense_Mutation_p.S135A	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	135	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						ATATTCTCAGAGTAAATTGGA	0.343000												
MYH3	4621	broad.mit.edu	37	17	10546233	10546233	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:10546233C>T	uc002gmq.1	-	14	1568	c.1491G>A	c.(1489-1491)CTG>CTA	p.L497L		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	497	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CCTCCTGCTCCAGCACGAACA	0.468000												
RICH2	9912	broad.mit.edu	37	17	12893457	12893457	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:12893457C>T	uc002gnr.3	+	21	2753	c.2426C>T	c.(2425-2427)TCG>TTG	p.S809L	RICH2_uc010vvk.1_3'UTR|RICH2_uc010vvl.1_3'UTR|RICH2_uc002gns.3_3'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.S803L|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	809					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						AAGAGGGACTCGGAGGAGGAG	0.612000												
TRIM16	10626	broad.mit.edu	37	17	15554406	15554406	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:15554406T>C	uc002gox.2	-	4	1075	c.518A>G	c.(517-519)GAG>GGG	p.E173G	TRIM16_uc002gor.1_Missense_Mutation_p.E173G|TRIM16_uc002goy.2_Intron	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	173	Potential.				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		AGCACTCACCTCCTTGTCCCT	0.612000												
NCOR1	9611	broad.mit.edu	37	17	15971388	15971388	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:15971388G>A	uc002gpo.2	-	32	4801	c.4561C>T	c.(4561-4563)CTG>TTG	p.L1521L	NCOR1_uc002gpn.2_Silent_p.L1537L|NCOR1_uc002gpm.2_Silent_p.L42L|NCOR1_uc010vwb.1_Silent_p.L105L|NCOR1_uc010coy.2_Silent_p.L429L|NCOR1_uc010vwc.1_Silent_p.L332L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1521	Interaction with ETO.|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTAGGGGTCAGTGTCGATTTC	0.473000												
NCOR1	9611	broad.mit.edu	37	17	16068428	16068428	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:16068428C>T	uc002gpo.2	-	5	723	c.483G>A	c.(481-483)TCG>TCA	p.S161S	NCOR1_uc002gpn.2_Silent_p.S161S|NCOR1_uc002gpp.1_Silent_p.S52S|NCOR1_uc002gpr.2_Silent_p.S52S|NCOR1_uc002gps.1_Silent_p.S161S|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Silent_p.S161S|NCOR1_uc010cpa.1_Silent_p.S161S|NCOR1_uc002gpu.2_Silent_p.S161S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	161	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGGTTGCCCCGAAATTGGAG	0.393000												
DRG2	1819	broad.mit.edu	37	17	18002386	18002386	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:18002386C>T	uc002gsh.1	+	4	426	c.371C>T	c.(370-372)GCC>GTC	p.A124V	DRG2_uc010vxg.1_Missense_Mutation_p.A124V|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.A124V	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	124	G.				signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					GAAGGCGCAGCCCAAGGTGGG	0.547000												
TNFAIP1	7126	broad.mit.edu	37	17	26669336	26669336	+	Silent	SNP	C	C	T	rs77434228	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:26669336C>T	uc002hax.1	+	6	601	c.582C>T	c.(580-582)AAC>AAT	p.N194N	TNFAIP1_uc002hay.2_Silent_p.N194N|TNFAIP1_uc010waf.1_Silent_p.N90N	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	194					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGCGCTTCAACGGCCGCGTGC	0.547000												
KIAA0100	9703	broad.mit.edu	37	17	26951282	26951282	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:26951282C>T	uc002hbu.2	-	25	4820	c.4721G>A	c.(4720-4722)CGA>CAA	p.R1574Q	KIAA0100_uc002hbt.2_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1574						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AAGGCAGTTTCGGTTGTATAT	0.458000												
LHX1	3975	broad.mit.edu	37	17	35298059	35298059	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:35298059C>T	uc002hnh.1	+	3	1546	c.550C>T	c.(550-552)CGC>TGC	p.R184C	LHX1_uc010cux.1_Missense_Mutation_p.R92C	NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	184	Homeobox.			R -> G (in Ref. 1; AAA21644).	cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				GCGGGGACCGCGCACCACCAT	0.662000												
MLLT6	4302	broad.mit.edu	37	17	36869018	36869018	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:36869018G>A	uc002hqi.3	+	8	808	c.795G>A	c.(793-795)CCG>CCA	p.P265P	MLLT6_uc010wdr.1_Silent_p.P265P|MLLT6_uc010cvm.1_Silent_p.P265P|MLLT6_uc002hqj.2_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	265					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					TCCTCACCCCGCCCGTGGTCC	0.617000			T	MLL	AL							
CDK12	51755	broad.mit.edu	37	17	37686960	37686960	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:37686960C>T	uc010cvv.2	+	14	4450	c.3864C>T	c.(3862-3864)AGC>AGT	p.S1288S	CDK12_uc002hrw.3_Silent_p.S1279S	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1288					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						ATCTTTCCAGCGCCCCCCAGG	0.642000										TCGA Ovarian(9;0.13)		
ERBB2	2064	broad.mit.edu	37	17	37864636	37864636	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:37864636G>A	uc002hso.2	+	3	526	c.288G>A	c.(286-288)CTG>CTA	p.L96L	ERBB2_uc002hsm.2_Silent_p.L66L|ERBB2_uc010cwa.2_Silent_p.L81L|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Silent_p.L96L|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Silent_p.L66L|ERBB2_uc002hsn.1_Silent_p.L96L	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	96	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)	AGGTCCCACTGCAGAGGCTGC	0.582000		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)		
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:37868208C>T	uc002hso.2	+	8	1167	c.929C>T	c.(928-930)TCC>TTC	p.S310F	ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	310	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	p.S310F(2)|p.S310Y(1)		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)	GACGTGGGATCCTGCACCCTC	0.582000		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)		
KRT31	3881	broad.mit.edu	37	17	39550390	39550390	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:39550390C>T	uc002hwn.2	-	7	1182	c.1129G>A	c.(1129-1131)GCG>ACG	p.A377T	KRT31_uc010cxn.2_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	377	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				TTGCTGCACGCGTTGGTCGTG	0.562000												
KRT32	3882	broad.mit.edu	37	17	39623344	39623344	+	Silent	SNP	G	G	A	rs142587865		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:39623344G>A	uc002hwr.2	-	1	295	c.234C>T	c.(232-234)TCC>TCT	p.S78S		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	78	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				CCATGGAGCCGGAGATGCCAC	0.612000												
CNP	1267	broad.mit.edu	37	17	40125660	40125660	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:40125660C>T	uc002hyl.1	+	4	1128	c.984C>T	c.(982-984)CGC>CGT	p.R328R	CNP_uc010wfz.1_Silent_p.R205R|CNP_uc002hym.1_Silent_p.R308R|CNP_uc010wga.1_Silent_p.R93R|CNP_uc002hyn.1_Silent_p.R93R	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	328					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGGGGAGCCGCGCCCACATCA	0.657000												
NAGLU	4669	broad.mit.edu	37	17	40695053	40695053	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:40695053T>C	uc002hzv.2	+	6	1369	c.1029T>C	c.(1027-1029)ACT>ACC	p.T343T		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	343						lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CAGTGGATACTGAGGCTGTGT	0.617000												
TUBG2	27175	broad.mit.edu	37	17	40815027	40815027	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:40815027G>A	uc010wgr.1	+	5	692	c.436G>A	c.(436-438)GGT>AGT	p.G146S	TUBG2_uc002iaq.2_5'UTR|TUBG2_uc002iar.2_Intron|TUBG2_uc002ias.2_5'UTR|TUBG2_uc002iap.2_Intron	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	146	GTP (Potential).				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)		TGGGGGTACGGGTTCTGGCCT	0.418000												
WNK4	65266	broad.mit.edu	37	17	40939916	40939916	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:40939916C>T	uc002ibj.2	+	8	1883	c.1862C>T	c.(1861-1863)TCG>TTG	p.S621L	WNK4_uc010wgx.1_Missense_Mutation_p.S285L|WNK4_uc002ibk.1_Missense_Mutation_p.S393L|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	621					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGCCTGCCCTCGGTGAGAGGG	0.627000												
TMUB2	79089	broad.mit.edu	37	17	42267869	42267869	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:42267869C>T	uc002ifo.2	+	4	760	c.603C>T	c.(601-603)AGC>AGT	p.S201S	TMUB2_uc002ifp.2_Silent_p.S181S|TMUB2_uc010wiu.1_Silent_p.S144S|TMUB2_uc002ifq.2_Silent_p.S201S|TMUB2_uc002ifr.2_Missense_Mutation_p.A85V|TMUB2_uc002ifs.2_Silent_p.S32S|TMUB2_uc002ift.2_Silent_p.S181S|TMUB2_uc002ifu.2_Missense_Mutation_p.A85V|TMUB2_uc002ifv.2_Silent_p.S181S|TMUB2_uc002ifx.2_Missense_Mutation_p.A85V|TMUB2_uc002ify.2_RNA	NM_001076674	NP_001070142	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain	201	Ubiquitin-like.					integral to membrane				lung(1)	1		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATCCTTACAGCAAATACTTCC	0.507000												
C17orf46	124783	broad.mit.edu	37	17	43332952	43332952	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:43332952G>A	uc002iis.1	-	4	693	c.597C>T	c.(595-597)AAC>AAT	p.N199N	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Silent_p.N178N	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	199				TN -> SK (in Ref. 2; AAP97314).						large_intestine(1)|ovary(1)	2						AGCACAGGGCGTTGGTGGGGA	0.647000												
KIAA1267	284058	broad.mit.edu	37	17	44108963	44108963	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:44108963C>T	uc002ikb.2	-	14	3282	c.3197G>A	c.(3196-3198)CGC>CAC	p.R1066H	KIAA1267_uc002ikc.2_Missense_Mutation_p.R1066H|KIAA1267_uc002ikd.2_Missense_Mutation_p.R1066H|KIAA1267_uc010dav.2_Missense_Mutation_p.R1065H|KIAA1267_uc010wkb.1_Missense_Mutation_p.R397H|KIAA1267_uc010wkc.1_Missense_Mutation_p.R334H	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	1066						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GCCTGAGGTGCGTCGAGTGCA	0.687000												
NSF	4905	broad.mit.edu	37	17	44827207	44827207	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:44827207C>T	uc002iku.2	+	18	2081	c.1977C>T	c.(1975-1977)AAC>AAT	p.N659N	NSF_uc010wke.1_Silent_p.N565N|NSF_uc010wkf.1_Silent_p.N565N|NSF_uc010wkg.1_Silent_p.N654N	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	659					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		AAATGCTTAACGCTTTCAGCA	0.458000												
TBKBP1	9755	broad.mit.edu	37	17	45773500	45773500	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:45773500G>A	uc002ilu.2	+	1	871	c.22G>A	c.(22-24)GAC>AAC	p.D8N		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	8					innate immune response						0						GTTCGAGGACGACATCAGCAT	0.677000												
ZNF652	22834	broad.mit.edu	37	17	47394293	47394293	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:47394293G>A	uc002iov.3	-	2	1259	c.795C>T	c.(793-795)AAC>AAT	p.N265N	ZNF652_uc002iow.2_Silent_p.N265N|ZNF652_uc002iou.3_Intron	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	265	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TATGAGTAACGTTCATGTGCT	0.463000												
WFIKKN2	124857	broad.mit.edu	37	17	48917876	48917876	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:48917876C>T	uc002isv.3	+	2	1921	c.1227C>T	c.(1225-1227)GGC>GGT	p.G409G	WFIKKN2_uc010dbu.2_Silent_p.G316G	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	409	BPTI/Kunitz inhibitor 2.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCCAGACGGGCCAGTGCCAGT	0.672000												
EPX	8288	broad.mit.edu	37	17	56274340	56274340	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:56274340G>A	uc002ivq.2	+	7	928	c.842G>A	c.(841-843)TGC>TAC	p.C281Y		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	281					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CAGCGTGACTGCATCCCTTTC	0.547000												
BZRAP1	9256	broad.mit.edu	37	17	56399703	56399703	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:56399703C>T	uc002ivx.3	-	10	2259	c.1388G>A	c.(1387-1389)CGG>CAG	p.R463Q	BZRAP1_uc010dcs.2_Missense_Mutation_p.R403Q|BZRAP1_uc010wnt.1_Missense_Mutation_p.R463Q	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	463						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCTTCTCCCGTAGGCTGAG	0.592000												
TANC2	26115	broad.mit.edu	37	17	61497863	61497863	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:61497863C>T	uc002jal.3	+	25	4543	c.4520C>T	c.(4519-4521)CCG>CTG	p.P1507L	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.P618L	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1507							binding			ovary(2)	2						CACACTTCCCCGGCTCATCAG	0.587000												
PSMC5	5705	broad.mit.edu	37	17	61907214	61907214	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:61907214C>T	uc002jcb.2	+	4	210	c.169C>T	c.(169-171)CGC>TGC	p.R57C	FTSJ3_uc002jbz.2_5'Flank|FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_Missense_Mutation_p.R34C|PSMC5_uc010ddz.2_5'UTR|PSMC5_uc002jcc.2_Missense_Mutation_p.R49C|PSMC5_uc002jcd.2_Missense_Mutation_p.R49C	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	57					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			large_intestine(1)	1						CCATCTAGTTCGCCTATTGCG	0.507000												
HELZ	9931	broad.mit.edu	37	17	65104752	65104752	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:65104752T>C	uc010wqk.1	-	30	4770	c.4583A>G	c.(4582-4584)CAG>CGG	p.Q1528R	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Q1527R|HELZ_uc010der.2_Missense_Mutation_p.Q71R	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGCGCTGCCCTGACTGAGAAA	0.562000												
CDC42EP4	23580	broad.mit.edu	37	17	71282535	71282535	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:71282535G>A	uc002jjn.2	-	2	252	c.105C>T	c.(103-105)CGC>CGT	p.R35R	CDC42EP4_uc002jjo.2_Silent_p.R35R|CDC42EP4_uc002jjp.1_Silent_p.R35R	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	35	CRIB.				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GCATGGTGTGGCGGAAGTCGC	0.657000												
BTBD17	388419	broad.mit.edu	37	17	72353578	72353578	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:72353578G>A	uc002jkn.2	-	3	655	c.655C>T	c.(655-657)CGC>TGC	p.R219C		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	219	BACK.					extracellular region					0						AGGTCCGAGCGTTGCAGGAGC	0.731000												
HN1	51155	broad.mit.edu	37	17	73144759	73144759	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:73144759G>A	uc002jna.1	-	2	347	c.64C>T	c.(64-66)CGG>TGG	p.R22W	HN1_uc002jmz.1_5'UTR|HN1_uc002jnb.1_Missense_Mutation_p.R22W|HN1_uc010dgc.1_RNA|HN1_uc002jnc.2_RNA|HN1_uc002jnd.2_Missense_Mutation_p.R22W	NM_016185	NP_057269	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	22						nucleus					0	all_lung(278;0.14)|Lung NSC(278;0.168)					CCTGGAGGCCGCAAAACTCTG	0.393000												
KIAA0195	9772	broad.mit.edu	37	17	73487842	73487842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:73487842G>A	uc002jnz.3	+	14	1732	c.1457G>A	c.(1456-1458)CGT>CAT	p.R486H	KIAA0195_uc010wsa.1_Missense_Mutation_p.R496H|KIAA0195_uc010wsb.1_Missense_Mutation_p.R142H	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	486					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCAGGAGCGTGGCGACTGG	0.617000												
GALK1	2584	broad.mit.edu	37	17	73761135	73761135	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:73761135G>A	uc010wsi.1	-	1	146	c.83C>T	c.(82-84)CCC>CTC	p.P28L	GALK1_uc002jpk.2_Missense_Mutation_p.P28L|GALK1_uc010wsj.1_Missense_Mutation_p.P28L	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	28			P -> T (in GALCT2; founder Romani mutation).		galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCAGCTCGGGCTCGGCCCC	0.711000												
UNC13D	201294	broad.mit.edu	37	17	73840360	73840360	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:73840360T>C	uc002jpp.2	-	1	439	c.59A>G	c.(58-60)AAG>AGG	p.K20R	UNC13D_uc010wsk.1_Missense_Mutation_p.K20R|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'Flank	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	20					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGCCTTATCTTGATGGCCTG	0.647000									Familial_Hemophagocytic_Lymphohistiocytosis			
EVPL	2125	broad.mit.edu	37	17	74005204	74005204	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:74005204A>G	uc002jqi.2	-	22	4310	c.4082T>C	c.(4081-4083)CTG>CCG	p.L1361P	EVPL_uc010wss.1_Missense_Mutation_p.L1383P|EVPL_uc010wst.1_Missense_Mutation_p.L831P	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1361	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						CCTCCTCTCCAGCAGCAGGCG	0.692000												
MGAT5B	146664	broad.mit.edu	37	17	74936837	74936837	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:74936837G>A	uc002jti.2	+	13	1885	c.1782G>A	c.(1780-1782)GCG>GCA	p.A594A	MGAT5B_uc002jth.2_Silent_p.A583A	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	585	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						ATCCCTACGCGGAGAACTTCA	0.552000												
SEC14L1	6397	broad.mit.edu	37	17	75196655	75196655	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:75196655G>A	uc002jto.2	+	9	1176	c.909G>A	c.(907-909)ACG>ACA	p.T303T	SEC14L1_uc010dhc.2_Silent_p.T303T|SEC14L1_uc010wth.1_Silent_p.T303T|SEC14L1_uc002jtm.2_Silent_p.T303T|SEC14L1_uc010wti.1_Silent_p.T269T	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	303					transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						AGTCTTTGACGTGGAGAAAGC	0.463000												
CHMP6	79643	broad.mit.edu	37	17	78972925	78972925	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:78972925G>T	uc002jyw.3	+	8	656	c.578G>T	c.(577-579)AGG>ATG	p.R193M		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	chromatin modifying protein 6	193				Missing: Membrane association; releases autoinhibition.	cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			ovary(1)	1	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCAGGCCCAGGCAGGCGGAG	0.617000												
AZI1	22994	broad.mit.edu	37	17	79164825	79164825	+	Missense_Mutation	SNP	C	C	T	rs111464253		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:79164825C>T	uc002jzp.1	-	23	3034	c.2834G>A	c.(2833-2835)CGG>CAG	p.R945Q	AZI1_uc002jzm.1_Missense_Mutation_p.R377Q|AZI1_uc002jzn.1_Missense_Mutation_p.R942Q|AZI1_uc002jzo.1_Missense_Mutation_p.R906Q|AZI1_uc010wum.1_Missense_Mutation_p.R909Q|AZI1_uc002jzq.2_Missense_Mutation_p.R93Q	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	945					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGAAGCTTCCGCTCCGACTG	0.672000												
GPS1	2873	broad.mit.edu	37	17	80014563	80014563	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:80014563C>T	uc002kdl.1	+	11	1232	c.1187C>T	c.(1186-1188)ACG>ATG	p.T396M	GPS1_uc002kdk.1_Missense_Mutation_p.T432M|GPS1_uc010dij.1_Missense_Mutation_p.T431M|GPS1_uc002kdm.1_Missense_Mutation_p.T376M|GPS1_uc002kdn.1_Missense_Mutation_p.T392M|GPS1_uc002kdo.1_Missense_Mutation_p.T395M|GPS1_uc010wvh.1_Missense_Mutation_p.T388M	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	396	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(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)			TTCAATACCACGGTGGCCGCC	0.637000												
LPIN2	9663	broad.mit.edu	37	18	2922171	2922171	+	Missense_Mutation	SNP	G	G	A	rs80338807		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:2922171G>A	uc002klo.2	-	17	2440	c.2201C>T	c.(2200-2202)TCG>TTG	p.S734L		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	734	C-LIP.		S -> L (in MAJEEDS).		fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGCACGAGCCGAGCAGTACAG	0.522000												
ARHGAP28	79822	broad.mit.edu	37	18	6890442	6890442	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:6890442T>C	uc010wzi.1	+	13	1455	c.1217T>C	c.(1216-1218)TTA>TCA	p.L406S	ARHGAP28_uc002knc.2_Missense_Mutation_p.L531S|ARHGAP28_uc002knd.2_Missense_Mutation_p.L424S|ARHGAP28_uc002kne.2_Missense_Mutation_p.L424S|ARHGAP28_uc002knf.2_Missense_Mutation_p.L415S			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	406					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				CCATCTTTCTTAATCACTCAA	0.468000												
PTPRM	5797	broad.mit.edu	37	18	8394488	8394488	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:8394488G>A	uc002knn.3	+	30	4687	c.4184G>A	c.(4183-4185)CGC>CAC	p.R1395H	PTPRM_uc010dkv.2_Missense_Mutation_p.R1408H|PTPRM_uc010wzl.1_Missense_Mutation_p.R1182H	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1395	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				GGGGGAGGCCGCAGTGGGACG	0.522000												
C18orf19	125228	broad.mit.edu	37	18	13681933	13681933	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:13681933T>C	uc010dlh.2	-	3	576	c.144A>G	c.(142-144)GTA>GTG	p.V48V	C18orf19_uc010dlg.2_Silent_p.V48V|C18orf19_uc010dli.2_Silent_p.V48V|C18orf19_uc002ksj.3_Silent_p.V48V|C18orf19_uc010dlj.2_Intron	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	48						integral to membrane				breast(2)	2						GAGGGCCTTGTACCAAAACCA	0.453000												
RIOK3	8780	broad.mit.edu	37	18	21046208	21046208	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:21046208C>T	uc002kui.3	+	6	1272	c.655C>T	c.(655-657)CGC>TGC	p.R219C	RIOK3_uc010dls.2_Missense_Mutation_p.R219C|RIOK3_uc010xas.1_Missense_Mutation_p.R203C|RIOK3_uc010xat.1_Silent_p.P10P	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	219					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCGAAGTGCCCGCCTACATGA	0.333000												
ZNF521	25925	broad.mit.edu	37	18	22804764	22804764	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:22804764T>C	uc002kvk.2	-	4	3365	c.3118A>G	c.(3118-3120)ACG>GCG	p.T1040A	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.T1040A|ZNF521_uc002kvl.2_Missense_Mutation_p.T820A	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1040	C2H2-type 24.				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)					ATGTGGAACGTCCCATGGATT	0.527000			T	PAX5	ALL							
DSG3	1830	broad.mit.edu	37	18	29040811	29040811	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:29040811C>T	uc002kws.2	+	7	809	c.700C>T	c.(700-702)CGT>TGT	p.R234C		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	234	Extracellular (Potential).|Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAGCAGCTATCGTCTGGTTGT	0.338000												
FAM59A	64762	broad.mit.edu	37	18	29972872	29972872	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:29972872G>A	uc002kxl.2	-	2	304	c.248C>T	c.(247-249)CCG>CTG	p.P83L	FAM59A_uc002kxk.1_Missense_Mutation_p.P83L	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	83	CABIT.									ovary(1)|skin(1)	2						ATAATGTACCGGAATCTCTAT	0.478000												
KIAA1328	57536	broad.mit.edu	37	18	34647208	34647208	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:34647208C>T	uc002kzz.2	+	7	954	c.932C>T	c.(931-933)GCT>GTT	p.A311V	KIAA1328_uc002lab.2_Missense_Mutation_p.A27V|KIAA1328_uc002lac.1_Missense_Mutation_p.A134V|KIAA1328_uc010dnc.1_RNA|KIAA1328_uc002lad.2_Missense_Mutation_p.A27V	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	311										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		CATAGACTTGCTGCAGATCGT	0.458000												
SMAD7	4092	broad.mit.edu	37	18	46448019	46448019	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:46448019C>T	uc002ldg.2	-	4	1291	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H	SMAD7_uc002ldf.2_Missense_Mutation_p.R147H|SMAD7_uc010xde.1_Missense_Mutation_p.R120H	NM_005904	NP_005895	O15105	SMAD7_HUMAN	SMAD family member 7	335	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding				0	Colorectal(1;0.0518)					GTAACTGCTGCGGTTGTACAC	0.572000												
MYO5B	4645	broad.mit.edu	37	18	47405347	47405347	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:47405347C>T	uc002leb.2	-	24	3532	c.3244G>A	c.(3244-3246)GAC>AAC	p.D1082N	MYO5B_uc002lea.2_Missense_Mutation_p.D223N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1082	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CGAAGGTTGTCGTATCTCTGC	0.512000												
ST8SIA3	51046	broad.mit.edu	37	18	55027353	55027353	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:55027353A>G	uc002lgn.2	+	4	1345	c.988A>G	c.(988-990)ACA>GCA	p.T330A		NM_015879	NP_056963	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide	330	Lumenal (Potential).				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|skin(1)	2				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TGACCCCAACACAAGGGAAGA	0.453000												
ATP8B1	5205	broad.mit.edu	37	18	55365098	55365098	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:55365098A>G	uc002lgw.2	-	6	556	c.556T>C	c.(556-558)TTC>CTC	p.F186L	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	186	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				GCAACTTTGAACCTAAGGATT	0.318000									Byler_disease			
PIGN	23556	broad.mit.edu	37	18	59828459	59828459	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:59828459G>T	uc002lii.3	-	4	576	c.128C>A	c.(127-129)GCG>GAG	p.A43E	PIGN_uc002lij.3_Missense_Mutation_p.A43E	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	43	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)				TAATCTTCTCGCTGGAGGAGG	0.403000												
ZNF407	55628	broad.mit.edu	37	18	72775204	72775204	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:72775204C>T	uc002llw.2	+	8	5584	c.5527C>T	c.(5527-5529)CCC>TCC	p.P1843S		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1843					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)		GGCAGAAGAGCCCCTCGTCAA	0.622000												
ZNF236	7776	broad.mit.edu	37	18	74607223	74607223	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:74607223C>A	uc002lmi.2	+	10	1864	c.1666C>A	c.(1666-1668)CAC>AAC	p.H556N	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	556	C2H2-type 12.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTCAAGGTGCACATTCGCCT	0.592000												
ZNF236	7776	broad.mit.edu	37	18	74627612	74627612	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:74627612C>T	uc002lmi.2	+	19	3263	c.3065C>T	c.(3064-3066)GCG>GTG	p.A1022V	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1022					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGAGTGAAGGCGTTCAGCTGC	0.463000												
SALL3	27164	broad.mit.edu	37	18	76754839	76754839	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:76754839G>A	uc002lmt.2	+	2	2848	c.2848G>A	c.(2848-2850)GCC>ACC	p.A950T	SALL3_uc010dra.2_Missense_Mutation_p.A557T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	950					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		cagcggaggcgcccctggccg	0.527000												
ATP9B	374868	broad.mit.edu	37	18	77107847	77107847	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:77107847C>T	uc002lmx.2	+	24	2774	c.2760C>T	c.(2758-2760)CAC>CAT	p.H920H	ATP9B_uc002lmw.1_Silent_p.H920H|ATP9B_uc002lmz.1_Silent_p.H614H|ATP9B_uc002lna.2_Translation_Start_Site|ATP9B_uc002lnb.1_Silent_p.H40H|ATP9B_uc010drb.2_RNA	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	920	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCATGGTGCACGGGCGGAACA	0.612000												
DOT1L	84444	broad.mit.edu	37	19	2213582	2213582	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:2213582C>T	uc002lvb.3	+	17	1638	c.1602C>T	c.(1600-1602)AGC>AGT	p.S534S	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	534						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)		AGCTCCTCAGCCACTGCCAGG	0.627000												
GNA11	2767	broad.mit.edu	37	19	3110179	3110179	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:3110179A>C	uc002lxd.2	+	2	411	c.169A>C	c.(169-171)AAG>CAG	p.K57Q		NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	57					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CACGTTCATCAAGCAGATGCG	0.662000			Mis		uveal melanoma							
ARRDC5	645432	broad.mit.edu	37	19	4891270	4891270	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:4891270G>T	uc002mbm.2	-	3	817	c.817C>A	c.(817-819)CTG>ATG	p.L273M		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	273					signal transduction						0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AGCAACGGCAGGTTGAAGGTG	0.637000												
KDM4B	23030	broad.mit.edu	37	19	5071059	5071059	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:5071059G>A	uc002mbq.3	+	7	891	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	KDM4B_uc010xil.1_Missense_Mutation_p.R222Q|KDM4B_uc010xim.1_Missense_Mutation_p.R222Q|KDM4B_uc002mbr.3_5'UTR	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	222	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CGCCTGGAGCGGCTGGCCATC	0.711000												
ZNRF4	148066	broad.mit.edu	37	19	5455726	5455726	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:5455726G>A	uc002mca.3	+	1	301	c.224G>A	c.(223-225)CGG>CAG	p.R75Q		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	75	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGGTGGCCACGGCCGGGCCGA	0.677000												
SAFB	6294	broad.mit.edu	37	19	5661542	5661542	+	Missense_Mutation	SNP	C	C	T	rs140739982		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:5661542C>T	uc002mcf.2	+	15	1929	c.1876C>T	c.(1876-1878)CGC>TGC	p.R626C	SAFB_uc002mcg.2_Missense_Mutation_p.R626C|SAFB_uc002mce.3_Missense_Mutation_p.R625C|SAFB_uc010xir.1_Missense_Mutation_p.R625C|SAFB_uc010xis.1_Missense_Mutation_p.R557C|SAFB_uc010xit.1_Missense_Mutation_p.R468C|SAFB_uc010xiu.1_Missense_Mutation_p.R425C	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	626	Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.|Glu-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGTGCGTGAACGCAGTGAACG	0.637000												
SLC25A23	79085	broad.mit.edu	37	19	6452431	6452431	+	Silent	SNP	G	G	A	rs140701489	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:6452431G>A	uc002mex.1	-	8	1105	c.963C>T	c.(961-963)TGC>TGT	p.C321C	SLC25A23_uc002mev.2_RNA|SLC25A23_uc010xjd.1_Intron	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	solute carrier family 25, member 23	321	Solcar 2.|Mitochondrial matrix (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)|pancreas(1)	2						TACGCCTGGCGCAGTCCAGCA	0.657000												
VAV1	7409	broad.mit.edu	37	19	6854032	6854032	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:6854032C>A	uc002mfu.1	+	26	2504	c.2407C>A	c.(2407-2409)CTC>ATC	p.L803I	VAV1_uc010xjh.1_Missense_Mutation_p.L771I|VAV1_uc010dva.1_Missense_Mutation_p.L781I|VAV1_uc002mfv.1_Missense_Mutation_p.L748I	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	803	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						AGAGCTGTCGCTCAAGGAGGG	0.557000												
HNRNPM	4670	broad.mit.edu	37	19	8527430	8527430	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:8527430G>A	uc010dwe.2	+	3	381	c.301G>A	c.(301-303)GTG>ATG	p.V101M	HNRNPM_uc010dwc.1_Missense_Mutation_p.V101M|HNRNPM_uc010xke.1_Missense_Mutation_p.V101M|HNRNPM_uc010dwd.2_Missense_Mutation_p.V101M|HNRNPM_uc002mka.2_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	101	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						GGTAACATACGTGGAGCTCTT	0.403000												
ADAMTS10	81794	broad.mit.edu	37	19	8670129	8670129	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:8670129G>A	uc002mkj.1	-	4	477	c.203C>T	c.(202-204)ACG>ATG	p.T68M	ADAMTS10_uc002mkk.1_Translation_Start_Site	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	68					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						TGTGGCCCCCGTGCCGCGGCG	0.682000												
DNMT1	1786	broad.mit.edu	37	19	10267172	10267172	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:10267172G>A	uc002mng.2	-	17	1426	c.1246C>T	c.(1246-1248)CAC>TAC	p.H416Y	DNMT1_uc010xlc.1_Missense_Mutation_p.H432Y|DNMT1_uc002mnh.2_Missense_Mutation_p.H311Y|DNMT1_uc010xld.1_Missense_Mutation_p.H416Y	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	416	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			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)	AGGTGACCGTGCTTACAGTAC	0.493000												
SMARCA4	6597	broad.mit.edu	37	19	11144113	11144113	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:11144113G>A	uc002mqf.3	+	26	3978	c.3694G>A	c.(3694-3696)GGC>AGC	p.G1232S	SMARCA4_uc010dxp.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxo.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxq.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxr.2_Missense_Mutation_p.G1232S|SMARCA4_uc002mqj.3_Missense_Mutation_p.G1232S|SMARCA4_uc010dxs.2_Missense_Mutation_p.G1232S|SMARCA4_uc010dxt.1_Missense_Mutation_p.G452S|SMARCA4_uc002mqh.3_Missense_Mutation_p.G355S|SMARCA4_uc002mqi.1_Missense_Mutation_p.G435S	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1232	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.G1232D(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GATCCAGGCCGGCATGTTCGA	0.637000			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
LDLR	3949	broad.mit.edu	37	19	11217255	11217255	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:11217255C>T	uc002mqk.3	+	5	877	c.709C>T	c.(709-711)CGC>TGC	p.R237C	LDLR_uc010xlk.1_Missense_Mutation_p.R237C|LDLR_uc010xll.1_Missense_Mutation_p.R196C|LDLR_uc010xlm.1_Missense_Mutation_p.R90C|LDLR_uc010xln.1_Missense_Mutation_p.R110C|LDLR_uc010xlo.1_Intron	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	237	LDL-receptor class A 6.|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)	GGCCACCTGTCGCCCTGACGA	0.473000												
CCDC151	115948	broad.mit.edu	37	19	11537032	11537032	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:11537032G>A	uc002mrs.2	-	7	1038	c.895C>T	c.(895-897)CGC>TGC	p.R299C	CCDC151_uc002mrr.2_Missense_Mutation_p.R234C|CCDC151_uc010dxz.2_Missense_Mutation_p.R239C	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	299	Potential.									ovary(1)	1						CTTATGTAGCGTTCCCGCTTC	0.622000												
ZNF625	90589	broad.mit.edu	37	19	12256707	12256707	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:12256707C>T	uc002mth.2	-	4	676	c.326G>A	c.(325-327)CGT>CAT	p.R109H	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.R143H	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	109	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AATGCTTGAACGGGAAATAAA	0.433000												
ZNF442	79973	broad.mit.edu	37	19	12461259	12461259	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:12461259C>T	uc002mtr.1	-	6	1751	c.1140G>A	c.(1138-1140)AAG>AAA	p.K380K	ZNF442_uc010xmk.1_Silent_p.K311K	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	380	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						TCCCACACTGCTTGCATTCAT	0.428000												
TNPO2	30000	broad.mit.edu	37	19	12829855	12829855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:12829855G>A	uc002muo.2	-	4	498	c.313C>T	c.(313-315)CGA>TGA	p.R105*	TNPO2_uc002mup.2_Nonsense_Mutation_p.R197*|TNPO2_uc002muq.2_Nonsense_Mutation_p.R105*|TNPO2_uc002mur.2_Nonsense_Mutation_p.R105*	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	105					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						ATGGTGGCTCGGATGAGCGAG	0.458000												
RNASEH2A	10535	broad.mit.edu	37	19	12918305	12918305	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:12918305C>T	uc002mvg.1	+	4	456	c.396C>T	c.(394-396)GGC>GGT	p.G132G	RNASEH2A_uc002mvf.1_Silent_p.G50G	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	132					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3						TGGACCAGGGCGTGAACGTCA	0.413000												
NANOS3	342977	broad.mit.edu	37	19	13988423	13988423	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:13988423C>T	uc002mxj.3	+	1	474	c.361C>T	c.(361-363)CGC>TGC	p.R121C		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	102	C2HC 2.|Nanos-type.				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CACACGTGAGCGCGCCCACAC	0.662000												
C19orf57	79173	broad.mit.edu	37	19	14000887	14000887	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:14000887G>A	uc002mxl.1	-	6	841	c.782C>T	c.(781-783)GCA>GTA	p.A261V	C19orf57_uc002mxk.1_Missense_Mutation_p.A143V|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	261					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GCCAGCCCCTGCTGTCCTTTG	0.652000												
CD97	976	broad.mit.edu	37	19	14507198	14507198	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:14507198G>A	uc002myl.2	+	5	514	c.391G>A	c.(391-393)GGC>AGC	p.G131S	CD97_uc002mym.2_Missense_Mutation_p.G131S|CD97_uc002myn.2_Intron	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	131	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						TAAAAGCTACGGCACCTGCGT	0.567000												
BRD4	23476	broad.mit.edu	37	19	15349730	15349730	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:15349730G>A	uc002nar.2	-	19	4066	c.3844C>T	c.(3844-3846)CGC>TGC	p.R1282C		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1282					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tgctcctgGCGCCGACGTGCC	0.522000			T	NUT|C15orf55	lethal midline carcinoma of young people							
C19orf44	84167	broad.mit.edu	37	19	16611979	16611979	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:16611979G>A	uc002neh.1	+	2	449	c.376G>A	c.(376-378)GGT>AGT	p.G126S	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.G126S|C19orf44_uc002neg.2_Missense_Mutation_p.G126S|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	126											0						CGCCGATGCTGGTCTTCCAAA	0.537000												
MED26	9441	broad.mit.edu	37	19	16687979	16687979	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:16687979A>C	uc002nen.1	-	3	923	c.662T>G	c.(661-663)ATC>AGC	p.I221S	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	221					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						GTTGACGGGGATCTTGCCACT	0.667000												
ANO8	57719	broad.mit.edu	37	19	17438603	17438603	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:17438603G>A	uc002ngf.2	-	14	2472	c.2313C>T	c.(2311-2313)TGC>TGT	p.C771C	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	771	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						TGACCAGGGCGCACAGCGCCG	0.647000												
PLVAP	83483	broad.mit.edu	37	19	17476403	17476403	+	Missense_Mutation	SNP	G	G	A	rs141514915		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:17476403G>A	uc002ngk.1	-	3	921	c.871C>T	c.(871-873)CGG>TGG	p.R291W		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	291	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						ATATCCGCCCGGAGGCTCCGG	0.657000												
SLC27A1	376497	broad.mit.edu	37	19	17608216	17608216	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:17608216C>T	uc002ngu.1	+	7	1199	c.1149C>T	c.(1147-1149)ATC>ATT	p.I383I	SLC27A1_uc002ngt.1_Silent_p.I115I|SLC27A1_uc010xpp.1_Silent_p.I204I|SLC27A1_uc002ngv.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	383	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						TACGCCAAATCGGGGAGTTCT	0.687000												
PGLS	25796	broad.mit.edu	37	19	17626983	17626983	+	Missense_Mutation	SNP	C	C	T	rs143569199		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:17626983C>T	uc002ngw.2	+	2	340	c.290C>T	c.(289-291)ACG>ATG	p.T97M		NM_012088	NP_036220	O95336	6PGL_HUMAN	6-phosphogluconolactonase	97						cytosol	6-phosphogluconolactonase activity				0						TGGCTGCAGACGCATCTTCTC	0.433000												
IL12RB1	3594	broad.mit.edu	37	19	18179309	18179309	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:18179309C>A	uc002nhw.1	-	11	1281	c.1217G>T	c.(1216-1218)GGG>GTG	p.G406V	IL12RB1_uc010xqb.1_Missense_Mutation_p.G406V|IL12RB1_uc002nhx.1_Missense_Mutation_p.G446V	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	406	Extracellular (Potential).|Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1						CCCCATTGCCCCAGACTCTCG	0.438000												
GMIP	51291	broad.mit.edu	37	19	19744834	19744834	+	Silent	SNP	G	G	A	rs138372356		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:19744834G>A	uc002nnd.2	-	19	2367	c.2250C>T	c.(2248-2250)ATC>ATT	p.I750I	GMIP_uc010xrb.1_Silent_p.I724I|GMIP_uc010xrc.1_Silent_p.I721I	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	750	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						CGTAGTGCACGATGAGGAACT	0.498000												
ZNF431	170959	broad.mit.edu	37	19	21365877	21365877	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:21365877G>A	uc002npp.2	+	5	918	c.771G>A	c.(769-771)GAG>GAA	p.E257E	ZNF431_uc010ecq.2_Silent_p.E166E|ZNF431_uc010ecr.2_Silent_p.E258E	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	zinc finger protein 431	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2						ATACTGGAGAGAAACCCTTCA	0.368000												
ZNF676	163223	broad.mit.edu	37	19	22379411	22379411	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:22379411C>T	uc002nqs.1	-	1	343	c.25G>A	c.(25-27)GTC>ATC	p.V9I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCCAGGAAGACCAGGTTTCTG	0.318000												
ANKRD27	84079	broad.mit.edu	37	19	33110407	33110407	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:33110407G>A	uc002ntn.1	-	19	2036	c.1880C>T	c.(1879-1881)TCG>TTG	p.S627L		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	627	ANK 6.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					TACCTCGGACGACTTCTGCCT	0.582000												
LRP3	4037	broad.mit.edu	37	19	33687652	33687652	+	Silent	SNP	C	C	T	rs138753598		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:33687652C>T	uc010edh.2	+	2	183	c.90C>T	c.(88-90)ACC>ACT	p.T30T	LRP3_uc010xrp.1_5'UTR	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	30					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					TCTTTCTCACCGGGAGACTCA	0.542000												
TMEM147	10430	broad.mit.edu	37	19	36036859	36036859	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:36036859G>A	uc002oaj.1	+	2	244	c.147G>A	c.(145-147)AAG>AAA	p.K49K	uc010eec.1_5'Flank|uc002oag.2_RNA|TMEM147_uc002oai.1_5'UTR|TMEM147_uc002oak.1_5'UTR	NM_032635	NP_116024	Q9BVK8	TM147_HUMAN	transmembrane protein 147	49	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AACTCTGCAAGGTGAGGGCCA	0.642000												
RBM42	79171	broad.mit.edu	37	19	36122057	36122057	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:36122057G>A	uc002oan.2	+	3	374	c.298G>A	c.(298-300)GAG>AAG	p.E100K	RBM42_uc010xsx.1_Missense_Mutation_p.E100K|RBM42_uc010eef.2_Missense_Mutation_p.E100K|RBM42_uc002oao.2_Missense_Mutation_p.E100K|RBM42_uc002oap.2_Missense_Mutation_p.E100K|RBM42_uc002oaq.2_Missense_Mutation_p.E100K|RBM42_uc010eeg.2_Missense_Mutation_p.E100K	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	100						cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGACTCTGGAGGCCCGAGC	0.602000												
LRFN3	79414	broad.mit.edu	37	19	36435796	36435796	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:36435796G>A	uc002oco.2	+	3	2214	c.1762G>A	c.(1762-1764)GGC>AGC	p.G588S		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	588	Cytoplasmic (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	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)			CCAGACCAAcggcgccctggg	0.478000												
ZNF146	7705	broad.mit.edu	37	19	36727221	36727221	+	Translation_Start_Site	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:36727221A>G	uc002odq.3	+	4	1402	c.-121A>G	c.(-123--119)ATACA>ATGCA		ZNF146_uc010eet.2_Translation_Start_Site|ZNF146_uc010eeu.2_Translation_Start_Site	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146						regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					GGGAGATCATACACAGAGAAG	0.333000												
SIPA1L3	23094	broad.mit.edu	37	19	38572401	38572401	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:38572401C>T	uc002ohk.2	+	3	705	c.196C>T	c.(196-198)CGC>TGC	p.R66C		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	66					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			cgccaccaccCGCCCCAGCCC	0.577000												
RYR1	6261	broad.mit.edu	37	19	38976748	38976748	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:38976748C>T	uc002oit.2	+	34	5583	c.5453C>T	c.(5452-5454)GCG>GTG	p.A1818V	RYR1_uc002oiu.2_Missense_Mutation_p.A1818V	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1818	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGGGGGAGGCGGTGCGCGAC	0.706000												
RYR1	6261	broad.mit.edu	37	19	39010019	39010019	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:39010019G>A	uc002oit.2	+	67	10314	c.10184G>A	c.(10183-10185)CGG>CAG	p.R3395Q	RYR1_uc002oiu.2_Missense_Mutation_p.R3395Q|RYR1_uc002oiv.1_Missense_Mutation_p.R315Q|RYR1_uc010xuf.1_Missense_Mutation_p.R315Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3395					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCTGGTGCGGGACGAGTTC	0.682000												
SIRT2	22933	broad.mit.edu	37	19	39380359	39380359	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:39380359G>A	uc002ojt.1	-	7	602	c.402C>T	c.(400-402)CTC>CTT	p.L134L	SIRT2_uc010egh.1_Silent_p.L97L|SIRT2_uc010egi.1_Silent_p.L97L|SIRT2_uc002ojs.1_Silent_p.L114L|SIRT2_uc002oju.1_Silent_p.L97L|SIRT2_uc010egj.1_Silent_p.L97L|SIRT2_uc002ojv.1_Silent_p.L132L	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	sirtuin 2 isoform 1	134	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GTTCCTTGGCGAGGGCGAAGA	0.602000												
PLEKHG2	64857	broad.mit.edu	37	19	39905680	39905680	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:39905680C>T	uc010xuz.1	+	3	483	c.158C>T	c.(157-159)ACA>ATA	p.T53I	PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Missense_Mutation_p.T53I|PLEKHG2_uc010xva.1_5'Flank	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	53					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGAGCTCCACATCCCTGAGC	0.672000												
LGALS14	56891	broad.mit.edu	37	19	40197275	40197275	+	Silent	SNP	G	G	A	rs146704740	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:40197275G>A	uc002omg.2	+	2	277	c.54G>A	c.(52-54)TCG>TCA	p.S18S	LGALS14_uc002omf.2_Silent_p.S47S	NM_020129	NP_064514	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14 isoform	18	Galectin.					nucleus	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CTGTTGGTTCGTGCGTGATAA	0.502000												
PLD3	23646	broad.mit.edu	37	19	40877716	40877716	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:40877716G>A	uc002onm.3	+	9	1213	c.815G>A	c.(814-816)CGC>CAC	p.R272H	PLD3_uc002onj.3_Missense_Mutation_p.R272H|PLD3_uc002onk.3_Missense_Mutation_p.R272H|PLD3_uc002onl.3_Missense_Mutation_p.R272H|PLD3_uc002onn.2_Missense_Mutation_p.R272H	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	272	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TATGACACCCGCTACAACCAA	0.597000												
MEGF8	1954	broad.mit.edu	37	19	42879848	42879848	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:42879848G>A	uc002otl.3	+	41	7893	c.7258G>A	c.(7258-7260)GTG>ATG	p.V2420M	MEGF8_uc002otm.3_Missense_Mutation_p.V2028M|MEGF8_uc002otn.3_Missense_Mutation_p.V81M	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2487	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				ATTCACCAACGTGGACATCCG	0.642000												
PSG6	5675	broad.mit.edu	37	19	43585372	43585372	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:43585372G>A	uc002ovi.2	-	2	184	c.91C>T	c.(91-93)CCC>TCC	p.P31S	PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.P31S|PSG2_uc002ovq.3_Missense_Mutation_p.P31S|PSG2_uc010eiq.1_Missense_Mutation_p.P31S|PSG2_uc002ovs.3_Missense_Mutation_p.P31S|PSG2_uc002ovt.3_Missense_Mutation_p.P31S			Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	31					female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				GCAGTGGTGGGCAGGTTCCAG	0.498000												
RELB	5971	broad.mit.edu	37	19	45540995	45540995	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:45540995C>T	uc002paj.1	+	13	1813	c.1687C>T	c.(1687-1689)CGC>TGC	p.R563C	SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	563						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAATCATTACCGCGAGGCGGC	0.697000												
ZNF296	162979	broad.mit.edu	37	19	45575762	45575762	+	Silent	SNP	G	G	A	rs140362077	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:45575762G>A	uc002pao.2	-	3	582	c.525C>T	c.(523-525)CAC>CAT	p.H175H		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	175	C2H2-type 1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCCACTGGGCGTGACGCAGCA	0.632000												
RTN2	6253	broad.mit.edu	37	19	45989353	45989353	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:45989353C>T	uc002pcb.2	-	10	1744	c.1516G>A	c.(1516-1518)GTG>ATG	p.V506M	RTN2_uc002pcc.2_Missense_Mutation_p.V433M|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	506	Reticulon.					integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		ACCAACCCCACATATTGGTCG	0.532000											OREG0025555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OPA3	80207	broad.mit.edu	37	19	46088103	46088103	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:46088103G>A	uc002pck.3	-	1	20	c.-80C>T	c.(-82--78)CACGA>CATGA		OPA3_uc002pcj.3_Translation_Start_Site|OPA3_uc010xxk.1_Intron	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b						response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CCGCCCTCTCGTGGCCATGCG	0.652000												
FBXO46	23403	broad.mit.edu	37	19	46215117	46215117	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:46215117C>T	uc002pcy.2	-	2	1762	c.1637G>A	c.(1636-1638)CGC>CAC	p.R546H	FBXO46_uc002pcz.2_Missense_Mutation_p.R546H	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	546							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGGTGCCAGCGGCAGAGCGA	0.667000												
PGLYRP1	8993	broad.mit.edu	37	19	46526000	46526000	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:46526000C>G	uc002pdx.1	-	1	324	c.280G>C	c.(280-282)GGC>CGC	p.G94R		NM_005091	NP_005082	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1 precursor	94					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)	2		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CACTTGTAGCCCACGTCGCAC	0.662000												
GRLF1	2909	broad.mit.edu	37	19	47492845	47492845	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:47492845G>A	uc010ekv.2	+	4	3949	c.3949G>A	c.(3949-3951)GTG>ATG	p.V1317M		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1317	Rho-GAP.				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)		GGTGAATACCGTGGCTGGTGC	0.522000												
LIG1	3978	broad.mit.edu	37	19	48620961	48620961	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:48620961G>A	uc002pia.1	-	26	2637	c.2517C>T	c.(2515-2517)AGC>AGT	p.S839S	LIG1_uc010xze.1_Silent_p.S532S|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.S771S|LIG1_uc010xzg.1_Silent_p.S808S	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	839					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCACACAGCGCTGGGGTCCA	0.662000								NER				
GRIN2D	2906	broad.mit.edu	37	19	48919411	48919411	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:48919411C>T	uc002pjc.3	+	7	1822	c.1734C>T	c.(1732-1734)CTC>CTT	p.L578L		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	578	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGGCCTTCCTCGGTAATCTGG	0.527000												
FUT1	2523	broad.mit.edu	37	19	49254356	49254356	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:49254356C>T	uc002pkk.2	-	4	1158	c.183G>A	c.(181-183)GCG>GCA	p.A61A		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	61	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TGGGGCCCATCGCAGTACCCG	0.622000												
PPFIA3	8541	broad.mit.edu	37	19	49646088	49646088	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:49646088G>A	uc002pmr.2	+	21	2904	c.2572G>A	c.(2572-2574)GTG>ATG	p.V858M	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.V726M|PPFIA3_uc002pmt.2_Missense_Mutation_p.V6M	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	858	SAM 1.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGCCTGGTATGTGGCCGCCTG	0.438000												
RCN3	57333	broad.mit.edu	37	19	50031892	50031892	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:50031892G>A	uc002poj.2	+	2	610	c.163G>A	c.(163-165)GAC>AAC	p.D55N		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	55						endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CTTCCAGTACGACCATGAGGC	0.642000												
FUZ	80199	broad.mit.edu	37	19	50312814	50312814	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:50312814C>T	uc002ppq.1	-	6	616	c.511G>A	c.(511-513)GCT>ACT	p.A171T	FUZ_uc002ppr.1_Missense_Mutation_p.A71T|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.A135T|FUZ_uc002ppv.1_Missense_Mutation_p.A121T	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	171					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GCGGCCTCAGCGAACCCGGAG	0.687000												
NAPSA	9476	broad.mit.edu	37	19	50864364	50864364	+	Missense_Mutation	SNP	C	C	T	rs141372464		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:50864364C>T	uc002prx.2	-	5	555	c.502G>A	c.(502-504)GGG>AGG	p.G168R	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	168					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGAGCCTCCCCGAAAATCACT	0.517000												
KLK6	5653	broad.mit.edu	37	19	51466663	51466663	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:51466663G>A	uc002pui.2	-	5	600	c.340C>T	c.(340-342)CGC>TGC	p.R114C	KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.R123C|KLK6_uc002puj.2_Missense_Mutation_p.R7C|KLK6_uc010ycn.1_Missense_Mutation_p.R7C|KLK6_uc002pul.2_Missense_Mutation_p.R114C|KLK6_uc002pum.2_Missense_Mutation_p.R7C	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	114	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTGGCTGGGCGTGCCAGGCGC	0.612000												
SIGLEC10	89790	broad.mit.edu	37	19	51918646	51918646	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:51918646G>A	uc002pwo.2	-	7	1735	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G	SIGLEC10_uc002pwp.2_Silent_p.G315G|SIGLEC10_uc002pwq.2_Silent_p.G315G|SIGLEC10_uc002pwr.2_Silent_p.G373G|SIGLEC10_uc010ycy.1_Silent_p.G283G|SIGLEC10_uc010ycz.1_Silent_p.G325G|SIGLEC10_uc010eow.2_Silent_p.G185G|SIGLEC10_uc002pws.1_Silent_p.G209G	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	373	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ACAGGCTTTGGCCCTCCAGTA	0.627000												
ZNF665	79788	broad.mit.edu	37	19	53669090	53669090	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:53669090C>T	uc010eqm.1	-	4	753	c.653G>A	c.(652-654)CGT>CAT	p.R218H		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	153	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TAGGTTTGAACGAACAGTAAA	0.403000												
PRPF31	26121	broad.mit.edu	37	19	54625258	54625258	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:54625258C>T	uc002qdh.2	+	4	654	c.258C>T	c.(256-258)GCC>GCT	p.A86A	PRPF31_uc010yek.1_Silent_p.A86A	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	86					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGTGGAGGCCGCGCCTGAAT	0.622000												
TTYH1	57348	broad.mit.edu	37	19	54930393	54930393	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:54930393G>A	uc002qfq.2	+	2	310	c.218G>A	c.(217-219)CGG>CAG	p.R73Q	TTYH1_uc010yey.1_Missense_Mutation_p.R122Q|TTYH1_uc002qfr.2_Missense_Mutation_p.R73Q|TTYH1_uc002qft.2_Missense_Mutation_p.R73Q|TTYH1_uc002qfu.1_5'UTR	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	73	Cytoplasmic (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGCTGCTGCCGGCCCCCCGAG	0.692000												
NLRP7	199713	broad.mit.edu	37	19	55450873	55450873	+	Silent	SNP	G	G	A	rs146862541		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:55450873G>A	uc002qih.3	-	4	1390	c.1314C>T	c.(1312-1314)CTC>CTT	p.L438L	NLRP7_uc002qig.3_Silent_p.L438L|NLRP7_uc002qii.3_Silent_p.L438L|NLRP7_uc010esk.2_Silent_p.L438L|NLRP7_uc010esl.2_Silent_p.L466L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	438	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CCTGCACCCCGAGCCTTTCCA	0.667000												
NLRP9	338321	broad.mit.edu	37	19	56241264	56241264	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:56241264C>T	uc002qly.2	-	3	1955	c.1927G>A	c.(1927-1929)GAT>AAT	p.D643N		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	643						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGGGATCATCAAGGCTGGTA	0.423000												
ZNF71	58491	broad.mit.edu	37	19	57133642	57133642	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:57133642C>T	uc002qnm.3	+	3	1225	c.987C>T	c.(985-987)GGC>GGT	p.G329G		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	329	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACGTGTGCGGCGAGTGCGGCA	0.642000												
ZNF835	90485	broad.mit.edu	37	19	57175745	57175745	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:57175745C>A	uc010ygo.1	-	2	888	c.888G>T	c.(886-888)GAG>GAT	p.E296D	ZNF835_uc010ygn.1_Missense_Mutation_p.E274D	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						AGGGCTTCTCCTCCGTGTGGA	0.682000												
ZNF671	79891	broad.mit.edu	37	19	58232172	58232172	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:58232172T>C	uc002qpz.3	-	4	1381	c.1282A>G	c.(1282-1284)AGT>GGT	p.S428G	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.S351G|ZNF671_uc010yhf.1_Missense_Mutation_p.S330G	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	428	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCACATTCACTGCACTCATAA	0.468000												
SLC27A5	10998	broad.mit.edu	37	19	59021257	59021257	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:59021257G>A	uc002qtc.2	-	3	1124	c.1014C>T	c.(1012-1014)CAC>CAT	p.H338H		NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	338	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTCCCATCACGTGGTACAGAG	0.562000												
ZBTB45	84878	broad.mit.edu	37	19	59028288	59028288	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:59028288G>A	uc002qtd.2	-	2	1045	c.753C>T	c.(751-753)AGC>AGT	p.S251S	ZBTB45_uc002qte.2_Silent_p.S251S|ZBTB45_uc002qtf.2_Silent_p.S251S	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	251					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)		CCTCGCACGCGCTGTCAGCAG	0.652000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TPO	7173	broad.mit.edu	37	2	1418199	1418199	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:1418199C>T	uc002qww.2	+	2	110	c.19C>T	c.(19-21)CTG>TTG	p.L7L	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.L7L|TPO_uc002qwu.2_Silent_p.L7L|TPO_uc002qwr.2_Silent_p.L7L|TPO_uc002qwx.2_Silent_p.L7L|TPO_uc010yio.1_Silent_p.L7L|TPO_uc010yip.1_Silent_p.L7L	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	7					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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)	GCTCGCTGTGCTGTCTGTCAC	0.507000												
KCNF1	3754	broad.mit.edu	37	2	11053018	11053018	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:11053018G>A	uc002rax.2	+	1	956	c.466G>A	c.(466-468)GCA>ACA	p.A156T		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	156	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGGCGTGGACGCAGCCGAGGG	0.692000												
ATAD2B	54454	broad.mit.edu	37	2	24103515	24103515	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:24103515G>A	uc002rek.3	-	7	1189	c.895C>T	c.(895-897)CCA>TCA	p.P299S	ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Missense_Mutation_p.P313S	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	299							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCTATTGGAGGTGCTTGG	0.333000												
OTOF	9381	broad.mit.edu	37	2	26688695	26688695	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:26688695C>A	uc002rhk.2	-	38	4771	c.4644G>T	c.(4642-4644)GAG>GAT	p.E1548D	OTOF_uc010yla.1_Missense_Mutation_p.E278D|OTOF_uc002rhh.2_Missense_Mutation_p.E781D|OTOF_uc002rhi.2_Missense_Mutation_p.E858D|OTOF_uc002rhj.2_Missense_Mutation_p.E781D	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1548	Cytoplasmic (Potential).|C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGGAGGCCTCGATGTCAA	0.572000												
TRIM54	57159	broad.mit.edu	37	2	27521604	27521604	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:27521604C>T	uc002rjo.2	+	2	338	c.338C>T	c.(337-339)TCC>TTC	p.S113F	TRIM54_uc002rjn.2_Missense_Mutation_p.S113F	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	113					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGAGTCATCCAGGTGAGCC	0.537000												
IFT172	26160	broad.mit.edu	37	2	27703932	27703932	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:27703932C>T	uc002rku.2	-	8	817	c.766G>A	c.(766-768)GTG>ATG	p.V256M	IFT172_uc002rkw.2_Missense_Mutation_p.V256M|IFT172_uc010yls.1_Missense_Mutation_p.V235M|IFT172_uc010ezc.2_Missense_Mutation_p.V256M|IFT172_uc002rkv.2_Missense_Mutation_p.V256M	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	256	WD 6.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CTTCCTAGCACAACAGACTGG	0.473000												
PREPL	9581	broad.mit.edu	37	2	44549925	44549925	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:44549925A>T	uc002ruf.2	-	12	2000	c.1965T>A	c.(1963-1965)AGT>AGA	p.S655R	PREPL_uc002rug.2_Missense_Mutation_p.S589R|PREPL_uc002ruh.2_Missense_Mutation_p.S593R|PREPL_uc010fax.2_Missense_Mutation_p.S655R|PREPL_uc002rui.3_Missense_Mutation_p.S566R|PREPL_uc002ruj.1_Missense_Mutation_p.S566R|PREPL_uc002ruk.1_Missense_Mutation_p.S655R	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like isoform C	655					proteolysis	cytosol	serine-type endopeptidase activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTCAGTATAACTTACAATTC	0.438000												
TTC7A	57217	broad.mit.edu	37	2	47202114	47202114	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:47202114C>A	uc002rvo.2	+	4	888	c.520C>A	c.(520-522)CTC>ATC	p.L174I	TTC7A_uc002rvm.2_Missense_Mutation_p.L140I|TTC7A_uc002rvn.1_Missense_Mutation_p.L55I|TTC7A_uc010fbb.2_Missense_Mutation_p.L174I|TTC7A_uc010fbc.2_5'UTR|TTC7A_uc002rvp.2_Missense_Mutation_p.L55I	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	174							binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TCCCGCAGGCCTCTCTCTGGA	0.657000												
MSH6	2956	broad.mit.edu	37	2	48018188	48018188	+	Missense_Mutation	SNP	G	G	A	rs63750143		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:48018188G>A	uc002rwd.3	+	2	535	c.383G>A	c.(382-384)CGT>CAT	p.R128H	MSH6_uc002rwc.2_Missense_Mutation_p.R128H|MSH6_uc010fbj.2_Translation_Start_Site|MSH6_uc010yoi.1_Intron|MSH6_uc010yoj.1_Translation_Start_Site	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	128	PWWP.		R -> L (no impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity).		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|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			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAATCAGTCCGTGTTCATGTA	0.463000			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
SPTBN1	6711	broad.mit.edu	37	2	54876812	54876812	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:54876812G>A	uc002rxu.2	+	26	5512	c.5263G>A	c.(5263-5265)GTG>ATG	p.V1755M	SPTBN1_uc002rxx.2_Missense_Mutation_p.V1742M|SPTBN1_uc002rxy.2_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1755	Interaction with ANK2.|Spectrin 14.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GCAGGAGCGCGTGGACACGGT	0.552000												
EFEMP1	2202	broad.mit.edu	37	2	56098226	56098226	+	Missense_Mutation	SNP	G	G	A	rs121434491		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:56098226G>A	uc002rzh.2	-	9	1363	c.1033C>T	c.(1033-1035)CGG>TGG	p.R345W	EFEMP1_uc002rzi.2_Missense_Mutation_p.R345W|EFEMP1_uc002rzj.2_Missense_Mutation_p.R345W|EFEMP1_uc010ypc.1_Missense_Mutation_p.R207W	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	345	Mediates interaction with TIMP3.|EGF-like 6; calcium-binding (Potential).		R -> W (in DHRD; misfolded, accumulates in cells due to inefficient secretion; induces the formation of deposits between Bruch's membrane and the retinal pigment epithelium where it accumulates).		negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	p.R345W(1)		ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCATCCTCCCGGCATTCATTT	0.368000												
CCDC85A	114800	broad.mit.edu	37	2	56420402	56420402	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:56420402G>A	uc002rzn.2	+	2	1569	c.1067G>A	c.(1066-1068)GGC>GAC	p.G356D		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	356	His-rich.									breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGAGCCAGGGGCACCAGCCCG	0.637000												
MDH1	4190	broad.mit.edu	37	2	63832498	63832498	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:63832498G>A	uc002scj.1	+	7	816	c.760G>A	c.(760-762)GTC>ATC	p.V254I	MDH1_uc010ypv.1_Missense_Mutation_p.V272I|MDH1_uc010ypw.1_Missense_Mutation_p.V159I	NM_005917	NP_005908	P40925	MDHC_HUMAN	cytosolic malate dehydrogenase	254					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			kidney(2)	2					NADH(DB00157)	CTGTGACCACGTCAGGGACAT	0.468000												
PROKR1	10887	broad.mit.edu	37	2	68873189	68873189	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:68873189G>A	uc010yqj.1	+	1	236	c.236G>A	c.(235-237)GGA>GAA	p.G79E	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	79	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						TGCGGCATTGGAAACTTCATC	0.537000												
ARHGAP25	9938	broad.mit.edu	37	2	69014990	69014990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:69014990G>A	uc002seu.2	+	4	732	c.368G>A	c.(367-369)CGC>CAC	p.R123H	ARHGAP25_uc010yqk.1_Missense_Mutation_p.R97H|ARHGAP25_uc010fdg.2_Missense_Mutation_p.R123H|ARHGAP25_uc010yql.1_Intron|ARHGAP25_uc002sev.2_Missense_Mutation_p.R116H|ARHGAP25_uc002sew.2_Missense_Mutation_p.R116H|ARHGAP25_uc002sex.2_Missense_Mutation_p.R116H|ARHGAP25_uc010fdh.1_RNA	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	123	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						GACCAGAATCGCATGGGACAG	0.522000												
ARHGAP25	9938	broad.mit.edu	37	2	69034552	69034552	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:69034552A>G	uc002seu.2	+	5	975	c.611A>G	c.(610-612)GAC>GGC	p.D204G	ARHGAP25_uc010yqk.1_Missense_Mutation_p.D179G|ARHGAP25_uc010fdg.2_Missense_Mutation_p.D205G|ARHGAP25_uc010yql.1_Missense_Mutation_p.D165G|ARHGAP25_uc002sev.2_Missense_Mutation_p.D198G|ARHGAP25_uc002sew.2_Missense_Mutation_p.D197G|ARHGAP25_uc002sex.2_Missense_Mutation_p.D198G|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_5'UTR	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	204	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						CCTGGGCAGGACAACCTGGTG	0.607000												
TGFA	7039	broad.mit.edu	37	2	70741999	70741999	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:70741999G>A	uc002sgs.3	-	2	292	c.86C>T	c.(85-87)CCG>CTG	p.P29L	TGFA_uc010fdq.2_Missense_Mutation_p.P35L|TGFA_uc010fdr.2_Missense_Mutation_p.P35L|TGFA_uc002sgt.3_Missense_Mutation_p.P29L|TGFA_uc002sgu.2_Missense_Mutation_p.P29L|TGFA_uc002sgv.2_Missense_Mutation_p.P29L|TGFA_uc002sgw.2_Missense_Mutation_p.P29L	NM_003236	NP_003227	P01135	TGFA_HUMAN	transforming growth factor, alpha isoform 1	29	Extracellular (Potential).				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			prostate(1)	1						ACCACTCAGCGGGGACGTGCT	0.607000												
ALMS1	7840	broad.mit.edu	37	2	73681186	73681186	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:73681186G>A	uc002sje.1	+	10	7646	c.7535G>A	c.(7534-7536)CGA>CAA	p.R2512Q	ALMS1_uc002sjf.1_Missense_Mutation_p.R2468Q|ALMS1_uc002sjg.2_Missense_Mutation_p.R1898Q|ALMS1_uc002sjh.1_Missense_Mutation_p.R1898Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2510					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGCCGGGTACGAGCACATGGT	0.368000												
THNSL2	55258	broad.mit.edu	37	2	88482275	88482275	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:88482275G>A	uc002ssz.3	+	6	1013	c.860G>A	c.(859-861)CGC>CAC	p.R287H	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.R287H|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Missense_Mutation_p.R129H|THNSL2_uc002ssy.3_Missense_Mutation_p.R287H|THNSL2_uc010fhe.2_Missense_Mutation_p.R129H	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	287					threonine biosynthetic process		threonine synthase activity			ovary(1)	1						GCAGTGAACCGCAATGACATC	0.463000												
NCAPH	23397	broad.mit.edu	37	2	97019989	97019989	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:97019989C>T	uc002svz.1	+	9	1155	c.1071C>T	c.(1069-1071)GAC>GAT	p.D357D	NCAPH_uc010fhu.1_Silent_p.D333D|NCAPH_uc010fhv.1_Silent_p.D346D|NCAPH_uc010yum.1_Silent_p.D333D|NCAPH_uc010fhw.1_Silent_p.D346D|NCAPH_uc010yun.1_Silent_p.D221D|NCAPH_uc002swa.1_Translation_Start_Site	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	357					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				CTGAAGTTGACGAGAGTGACT	0.498000												
C2orf55	343990	broad.mit.edu	37	2	99439344	99439344	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:99439344C>T	uc002szf.1	-	7	1686	c.1392G>A	c.(1390-1392)GCG>GCA	p.A464A		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	464	Pro-rich.										0						GCTCCGTCTCCGCTTCTCTCT	0.602000												
EIF5B	9669	broad.mit.edu	37	2	100010862	100010862	+	Splice_Site	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:100010862G>A	uc002tab.2	+	19	3196	c.3012_splice	c.e19+1	p.P1004_splice	EIF5B_uc010yvq.1_Splice_Site	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						AGAAGTGCCCGTAAGTAACTA	0.423000												
CREG2	200407	broad.mit.edu	37	2	101967439	101967439	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:101967439G>A	uc002tba.2	-	4	865	c.819C>T	c.(817-819)GGC>GGT	p.G273G		NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	273						extracellular region	FMN binding			ovary(1)	1						TACTGGATGCGCCTCCATACC	0.448000												
NCK2	8440	broad.mit.edu	37	2	106498310	106498310	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:106498310C>T	uc002tdg.2	+	4	1195	c.753C>T	c.(751-753)TAC>TAT	p.Y251Y	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.Y251Y	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	251	SH3 3.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						CCAAAAACTACGTGGTGGTCC	0.647000												
UXS1	80146	broad.mit.edu	37	2	106715192	106715192	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:106715192T>C	uc002tdm.2	-	13	1105	c.1007A>G	c.(1006-1008)CAG>CGG	p.Q336R	UXS1_uc002tdk.2_5'Flank|UXS1_uc002tdl.2_Missense_Mutation_p.Q168R|UXS1_uc002tdn.2_Missense_Mutation_p.Q341R|UXS1_uc002tdo.2_Missense_Mutation_p.Q279R	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	336	Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2						TTTAATTAACTGAGCAAATTC	0.418000												
ST6GAL2	84620	broad.mit.edu	37	2	107423342	107423342	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:107423342C>T	uc002tdq.2	-	6	1501	c.1382G>A	c.(1381-1383)CGG>CAG	p.R461Q	ST6GAL2_uc002tdr.2_Missense_Mutation_p.R461Q	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	461	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CTCCGTCTGCCGCACGGATGG	0.517000												
ACOXL	55289	broad.mit.edu	37	2	111691125	111691125	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:111691125G>A	uc002tgr.3	+	12	1189	c.965G>A	c.(964-966)CGC>CAC	p.R322H	ACOXL_uc010fkc.2_Missense_Mutation_p.R322H|ACOXL_uc010yxk.1_Missense_Mutation_p.R322H	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	322					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						GTCAACAGTCGCTCGCTGCAG	0.622000												
FBLN7	129804	broad.mit.edu	37	2	112942900	112942900	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:112942900G>A	uc002tho.1	+	7	1202	c.931G>A	c.(931-933)GTG>ATG	p.V311M	FBLN7_uc002thn.2_Missense_Mutation_p.V311M|FBLN7_uc010fki.1_Missense_Mutation_p.V265M|FBLN7_uc010fkj.1_Missense_Mutation_p.V177M	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	311	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						TGTGAGCTACGTGAAGACGTC	0.612000												
EN1	2019	broad.mit.edu	37	2	119604372	119604372	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:119604372C>T	uc002tlm.2	-	1	1388	c.372G>A	c.(370-372)CCG>CCA	p.P124P		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	124					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						CCAGAAGCTGCGGTGGCGGCT	0.667000												
WDR33	55339	broad.mit.edu	37	2	128477227	128477227	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:128477227C>T	uc002tpg.1	-	16	2555	c.2372G>A	c.(2371-2373)CGG>CAG	p.R791Q		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	791					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGGTTCTCCCGGGGGCCTGG	0.612000												
ACMSD	130013	broad.mit.edu	37	2	135625178	135625178	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:135625178C>T	uc002ttz.2	+	6	583	c.516C>T	c.(514-516)TTC>TTT	p.F172F	ACMSD_uc002tua.2_Silent_p.F114F|uc010zbe.1_RNA	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	172					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		GTTCCCTGTTCGTGCATCCCT	0.507000												
FAP	2191	broad.mit.edu	37	2	163055294	163055294	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:163055294C>T	uc002ucd.2	-	16	1583	c.1375G>A	c.(1375-1377)GCC>ACC	p.A459T	FAP_uc010fpc.2_5'UTR|FAP_uc010zct.1_Missense_Mutation_p.A434T|FAP_uc010fpd.2_5'UTR	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	459	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						TAGTACTTGGCGTAGTCGCTG	0.463000												
SCN3A	6328	broad.mit.edu	37	2	165956828	165956828	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:165956828C>T	uc002ucx.2	-	22	4442	c.3950G>A	c.(3949-3951)CGG>CAG	p.R1317Q	SCN3A_uc002ucy.2_Missense_Mutation_p.R1268Q|SCN3A_uc002ucz.2_Missense_Mutation_p.R1268Q|SCN3A_uc002uda.1_Missense_Mutation_p.R1137Q|SCN3A_uc002udb.1_Missense_Mutation_p.R1137Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1317	Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GCCTTCAAACCGGGATAAGGC	0.403000												
SCN3A	6328	broad.mit.edu	37	2	165984285	165984285	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:165984285G>A	uc002ucx.2	-	18	3741	c.3249C>T	c.(3247-3249)TAC>TAT	p.Y1083Y	SCN3A_uc002ucy.2_Silent_p.Y1034Y|SCN3A_uc002ucz.2_Silent_p.Y1034Y|SCN3A_uc002uda.1_Silent_p.Y903Y|SCN3A_uc002udb.1_Silent_p.Y903Y	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1083						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	CATCGATTACGTATTTTTCAA	0.378000												
CYBRD1	79901	broad.mit.edu	37	2	172409896	172409896	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:172409896C>T	uc002ugy.3	+	3	633	c.443C>T	c.(442-444)CCG>CTG	p.P148L	CYBRD1_uc002ugz.3_Silent_p.S78S	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1 isoform 1	148	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0						CCATGGGCTCCGCTTTCTCTC	0.363000												
ZAK	51776	broad.mit.edu	37	2	174074513	174074513	+	Silent	SNP	G	G	A	rs145549000		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:174074513G>A	uc002uhz.2	+	10	1001	c.801G>A	c.(799-801)ACG>ACA	p.T267T	ZAK_uc002uhx.2_Silent_p.T267T|ZAK_uc002uhy.2_Silent_p.T267T|ZAK_uc010zei.1_Silent_p.T166T|ZAK_uc002uia.1_Silent_p.T267T|uc002uib.2_RNA	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	267	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			CAAATGACACGAGCCTTCCTG	0.468000												
SP3	6670	broad.mit.edu	37	2	174774779	174774779	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:174774779A>G	uc002uig.2	-	7	2400	c.2236T>C	c.(2236-2238)TCA>CCA	p.S746P	SP3_uc002uie.2_Missense_Mutation_p.S678P|SP3_uc002uif.2_Missense_Mutation_p.S693P|SP3_uc010zel.1_Missense_Mutation_p.S743P	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	746					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CCTATCCCTGAAACAGAACCT	0.433000												
EVX2	344191	broad.mit.edu	37	2	176948177	176948177	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:176948177C>T	uc010zeu.1	-	1	514	c.328G>A	c.(328-330)GCT>ACT	p.A110T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	110						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCGGCCTCAGCGGCCGCCTCT	0.657000												
TTN	7273	broad.mit.edu	37	2	179391930	179391930	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:179391930T>C	uc010zfg.1	-	312	100305	c.100081A>G	c.(100081-100083)ACA>GCA	p.T33361A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T27056A|TTN_uc010zfi.1_Missense_Mutation_p.T26989A|TTN_uc010zfj.1_Missense_Mutation_p.T26864A|TTN_uc002umq.2_Missense_Mutation_p.T277A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	34288							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)			CAGGACCATGTTACTTCTGGG	0.463000												
TTN	7273	broad.mit.edu	37	2	179395635	179395635	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:179395635G>A	uc010zfg.1	-	307	98227	c.98003C>T	c.(98002-98004)TCC>TTC	p.S32668F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S26363F|TTN_uc010zfi.1_Missense_Mutation_p.S26296F|TTN_uc010zfj.1_Missense_Mutation_p.S26171F|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33595							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)			AGGCTCTGGGGATTTGACTCT	0.478000												
TTN	7273	broad.mit.edu	37	2	179426759	179426759	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:179426759C>T	uc010zfg.1	-	275	76620	c.76396G>A	c.(76396-76398)GAA>AAA	p.E25466K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19161K|TTN_uc010zfi.1_Missense_Mutation_p.E19094K|TTN_uc010zfj.1_Missense_Mutation_p.E18969K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26393							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)			ACACATAATTCATAAGTTCCA	0.373000												
TTN	7273	broad.mit.edu	37	2	179428010	179428010	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:179428010A>G	uc010zfg.1	-	275	75369	c.75145T>C	c.(75145-75147)TGG>CGG	p.W25049R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W18744R|TTN_uc010zfi.1_Missense_Mutation_p.W18677R|TTN_uc010zfj.1_Missense_Mutation_p.W18552R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25976							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)			CAGGTTGTCCATTCATCCGCA	0.448000												
TTN	7273	broad.mit.edu	37	2	179440367	179440367	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:179440367C>T	uc010zfg.1	-	275	63012	c.62788G>A	c.(62788-62790)GGC>AGC	p.G20930S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G14625S|TTN_uc010zfi.1_Missense_Mutation_p.G14558S|TTN_uc010zfj.1_Missense_Mutation_p.G14433S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21857							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)			TCAGACAAGCCGGTAACTTTA	0.418000												
TTN	7273	broad.mit.edu	37	2	179472567	179472567	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:179472567G>A	uc010zfg.1	-	225	45467	c.45243C>T	c.(45241-45243)GCC>GCT	p.A15081A	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A8776A|TTN_uc010zfi.1_Silent_p.A8709A|TTN_uc010zfj.1_Silent_p.A8584A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16008							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)			CTTCCCCTGCGGCATTGACAG	0.463000												
PDE1A	5136	broad.mit.edu	37	2	183094749	183094749	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:183094749A>C	uc002uos.2	-	7	791	c.707T>G	c.(706-708)CTT>CGT	p.L236R	PDE1A_uc010zfp.1_Missense_Mutation_p.L132R|PDE1A_uc002uoq.1_Missense_Mutation_p.L236R|PDE1A_uc010zfq.1_Missense_Mutation_p.L236R|PDE1A_uc002uor.2_Missense_Mutation_p.L220R|PDE1A_uc002uou.2_Missense_Mutation_p.L202R	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	236	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACCTGTATGAAGCATTATGTA	0.348000												
FRZB	2487	broad.mit.edu	37	2	183731002	183731002	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:183731002C>T	uc002upa.1	-	1	497	c.279G>A	c.(277-279)GCG>GCA	p.A93A		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	93	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCAGATGGGCGCGTACATGG	0.612000												
WDR75	84128	broad.mit.edu	37	2	190328454	190328454	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:190328454C>T	uc002uql.1	+	10	1032	c.972C>T	c.(970-972)TCC>TCT	p.S324S	WDR75_uc002uqm.1_Silent_p.S260S|WDR75_uc002uqn.1_Silent_p.S102S|WDR75_uc002uqo.1_Silent_p.S102S	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	324	WD 5.					nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTGAAGCATCCGCAGTAATTC	0.299000												
DNAH7	56171	broad.mit.edu	37	2	196759791	196759791	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:196759791C>T	uc002utj.3	-	30	4906	c.4805G>A	c.(4804-4806)CGT>CAT	p.R1602H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1602	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AAAACCATGACGCACAATCAT	0.373000												
STK17B	9262	broad.mit.edu	37	2	197008310	197008310	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:197008310T>C	uc002utk.2	-	5	905	c.581A>G	c.(580-582)GAA>GGA	p.E194G	STK17B_uc010fsh.2_Missense_Mutation_p.E194G	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	194	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TCCCATGATTTCCCGAAGTTC	0.333000												
HECW2	57520	broad.mit.edu	37	2	197080603	197080603	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:197080603G>A	uc002utm.1	-	28	4776	c.4593C>T	c.(4591-4593)ATC>ATT	p.I1531I	HECW2_uc002utl.1_Silent_p.I1175I	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	1531	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						GAAGAGCAGTGATTTTCCCCC	0.378000												
FAM117B	150864	broad.mit.edu	37	2	203620321	203620321	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:203620321C>T	uc010zhx.1	+	5	1031	c.1021C>T	c.(1021-1023)CGG>TGG	p.R341W		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	341										ovary(1)	1						AACAGGCTCCCGGTTCCGGAA	0.413000												
TMBIM1	64114	broad.mit.edu	37	2	219144816	219144816	+	Missense_Mutation	SNP	G	G	A	rs147296873		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:219144816G>A	uc002vho.1	-	4	962	c.236C>T	c.(235-237)GCA>GTA	p.A79V	PNKD_uc002vhn.2_Intron|TMBIM1_uc002vhp.1_Missense_Mutation_p.A79V|TMBIM1_uc010zjz.1_5'UTR|TMBIM1_uc010zka.1_5'UTR	NM_022152	NP_071435	Q969X1	TMBI1_HUMAN	transmembrane BAX inhibitor motif containing 1	79						integral to membrane					0		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCACTCACTGCTCTCTCCTC	0.572000												
SPEG	10290	broad.mit.edu	37	2	220336640	220336640	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:220336640G>A	uc010fwg.2	+	14	3766	c.3766G>A	c.(3766-3768)GGT>AGT	p.G1256S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1256	Ig-like 6.				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)		TCAGCACGCCGGTGTCTACAA	0.622000												
STK11IP	114790	broad.mit.edu	37	2	220473425	220473425	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:220473425G>A	uc002vml.2	+	15	1800	c.1757G>A	c.(1756-1758)CGC>CAC	p.R586H	STK11IP_uc010zll.1_Missense_Mutation_p.R543H|STK11IP_uc002vmm.1_Missense_Mutation_p.R575H	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	586	Glu-rich.				protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGCAGCTCGCACCTTGGAG	0.652000												
CCDC140	151278	broad.mit.edu	37	2	223168942	223168942	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:223168942G>A	uc002vnb.1	+	2	705	c.321G>A	c.(319-321)GCG>GCA	p.A107A		NM_153038	NP_694583	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	107											0		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCCGGGCGTCTCCTGAGA	0.637000												
MFF	56947	broad.mit.edu	37	2	228195480	228195480	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:228195480C>T	uc002vos.2	+	4	595	c.177C>T	c.(175-177)AAC>AAT	p.N59N	MFF_uc002vot.2_Silent_p.N33N|MFF_uc002vou.2_Silent_p.N59N|MFF_uc002vov.2_Silent_p.N33N|MFF_uc002vow.2_Silent_p.N33N|MFF_uc002vox.2_Silent_p.N33N|MFF_uc002voy.2_Silent_p.N59N|MFF_uc002voz.2_Silent_p.N33N	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	59	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						CACCGCCAAACGCTGACCTGG	0.423000												
GPR55	9290	broad.mit.edu	37	2	231775009	231775009	+	Silent	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:231775009G>T	uc002vrg.2	-	2	862	c.669C>A	c.(667-669)GCC>GCA	p.A223A	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Silent_p.A223A	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	223	Cytoplasmic (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TGTAGATGCAGGCTTTCTGCT	0.597000												
NGEF	25791	broad.mit.edu	37	2	233756178	233756178	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:233756178G>A	uc002vts.2	-	8	1410	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W	NGEF_uc010zmm.1_Missense_Mutation_p.R111W|NGEF_uc010fyg.1_Missense_Mutation_p.R296W	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	388	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ATCAGCTCCCGGAAAGCTGCC	0.612000												
DGKD	8527	broad.mit.edu	37	2	234343474	234343474	+	Silent	SNP	C	C	T	rs150294529		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:234343474C>T	uc002vui.1	+	5	525	c.513C>T	c.(511-513)CAC>CAT	p.H171H	DGKD_uc002vuj.1_Silent_p.H127H|DGKD_uc010fyh.1_Silent_p.H38H|DGKD_uc002vuk.1_Silent_p.H38H	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	171	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCTGTTCCCACGCGAGGCCGA	0.562000												
HJURP	55355	broad.mit.edu	37	2	234754463	234754463	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:234754463C>T	uc002vvg.2	-	6	472	c.406G>A	c.(406-408)GCA>ACA	p.A136T	HJURP_uc010znd.1_Missense_Mutation_p.A75T|HJURP_uc010zne.1_Intron	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	136					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TGAGGCACTGCAGGCTGATCA	0.378000												
GBX2	2637	broad.mit.edu	37	2	237074757	237074757	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:237074757C>T	uc002vvw.1	-	2	885	c.847G>A	c.(847-849)GCC>ACC	p.A283T	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	283	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		AGTTTGAGGGCGTGGGCGATC	0.587000												
COL6A3	1293	broad.mit.edu	37	2	238274435	238274435	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:238274435C>T	uc002vwl.2	-	12	6029	c.5744G>A	c.(5743-5745)CGG>CAG	p.R1915Q	COL6A3_uc002vwo.2_Missense_Mutation_p.R1709Q|COL6A3_uc010znj.1_Missense_Mutation_p.R1308Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1915	VWFA 10.|Nonhelical region.				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)		GCGCATGTTCCGGAACTTCTC	0.612000												
AGXT	189	broad.mit.edu	37	2	241818169	241818169	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:241818169C>T	uc002waa.3	+	11	1231	c.1110C>T	c.(1108-1110)CGC>CGT	p.R370R	AGXT_uc002wab.3_Silent_p.R248R	NM_000030	NP_000021	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	370					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity				0		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATGCCACCCGCGAGAATGTGG	0.697000												
SNED1	25992	broad.mit.edu	37	2	242009422	242009422	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:242009422T>C	uc002wah.1	+	24	3395	c.3395T>C	c.(3394-3396)TTG>TCG	p.L1132S	SNED1_uc002wai.1_Missense_Mutation_p.L367S|SNED1_uc002waj.1_Missense_Mutation_p.L219S|SNED1_uc002wak.2_Missense_Mutation_p.L219S|SNED1_uc002wal.2_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	1132	Fibronectin type-III 3.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCAGGCAGCTTGCTGGAGGCT	0.647000												
PDCD1	5133	broad.mit.edu	37	2	242793372	242793372	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:242793372C>T	uc002wcq.3	-	5	773	c.705G>A	c.(703-705)CCG>CCA	p.P235P	PDCD1_uc010fzs.2_Silent_p.P114P|PDCD1_uc010fzt.2_RNA	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	235	Cytoplasmic (Potential).				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CGGGGGGCTCCGGGGTCTTCT	0.622000												
SIRPD	128646	broad.mit.edu	37	20	1532450	1532450	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:1532450C>T	uc002wfi.2	-	2	352	c.308G>A	c.(307-309)CGC>CAC	p.R103H		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	signal-regulatory protein delta precursor	103	Ig-like V-type.					extracellular region				ovary(1)|kidney(1)|skin(1)	3						TTCACGGATGCGGGTGGAAAA	0.458000												
HAO1	54363	broad.mit.edu	37	20	7875863	7875863	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:7875863C>T	uc002wmw.1	-	5	754	c.730G>A	c.(730-732)GCC>ACC	p.A244T	HAO1_uc010gbu.2_Missense_Mutation_p.A244T	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	244	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3						GCCTCCCTGGCATCATCACCT	0.512000												
PLCB1	23236	broad.mit.edu	37	20	8696934	8696934	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:8696934C>T	uc002wnb.2	+	13	1277	c.1274C>T	c.(1273-1275)GCG>GTG	p.A425V	PLCB1_uc010zrb.1_Missense_Mutation_p.A324V|PLCB1_uc002wna.2_Missense_Mutation_p.A425V|PLCB1_uc002wnc.1_Missense_Mutation_p.A324V|PLCB1_uc002wnd.1_Missense_Mutation_p.A2V	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	425	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						GCCAAGATGGCGGAGTACTGC	0.468000												
SPTLC3	55304	broad.mit.edu	37	20	13071817	13071817	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:13071817G>A	uc002wod.1	+	5	983	c.694G>A	c.(694-696)GCA>ACA	p.A232T		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	232					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	GATGGGATTCGCAACTAACTC	0.413000												
SEL1L2	80343	broad.mit.edu	37	20	13847380	13847380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:13847380C>A	uc010gcf.2	-	15	1454	c.1372G>T	c.(1372-1374)GGA>TGA	p.G458*	SEL1L2_uc002woq.3_Nonsense_Mutation_p.G319*|SEL1L2_uc010zrl.1_Nonsense_Mutation_p.G458*|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	458	Extracellular (Potential).|Sel1-like 9.					integral to membrane	binding			ovary(2)	2						CTTACTACTCCTGTTCCTGTT	0.408000												
FLRT3	23767	broad.mit.edu	37	20	14306569	14306569	+	Silent	SNP	A	A	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:14306569A>C	uc002wov.1	-	3	2051	c.1584T>G	c.(1582-1584)CCT>CCG	p.P528P	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.P528P	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	528	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TGGCAGCCAAAGGTAAATTGG	0.463000												
PAX1	5075	broad.mit.edu	37	20	21687260	21687260	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:21687260C>T	uc002wsj.2	+	2	525	c.471C>T	c.(469-471)ACC>ACT	p.T157T	PAX1_uc010zsl.1_Silent_p.T157T|PAX1_uc010zsm.1_Silent_p.T133T	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	157	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						ACAACGAGACCGGCTCCATTC	0.657000												
XKR7	343702	broad.mit.edu	37	20	30585220	30585220	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:30585220G>T	uc002wxe.2	+	3	1874	c.1700G>T	c.(1699-1701)GGG>GTG	p.G567V		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	567						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGAGTGTGGGGACTTCCCAG	0.597000												
DNMT3B	1789	broad.mit.edu	37	20	31386314	31386314	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:31386314G>A	uc002wyc.2	+	15	1860	c.1539G>A	c.(1537-1539)GCG>GCA	p.A513A	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.A493A|DNMT3B_uc002wye.2_Silent_p.A493A|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.A451A|DNMT3B_uc010zua.1_Silent_p.A417A|DNMT3B_uc002wyf.2_Silent_p.A505A|DNMT3B_uc002wyg.2_Silent_p.A212A|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	513	PHD-type; atypical.|Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						CAGGCACAGCGGCCGAGGCCA	0.642000												
BPIL3	128859	broad.mit.edu	37	20	31619533	31619533	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:31619533G>A	uc010zuc.1	+	1	80	c.80G>A	c.(79-81)GGC>GAC	p.G27D	BPIL3_uc010zud.1_5'UTR	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	27						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						CTGCGGTTGGGCATGGACATC	0.647000												
C20orf117	140710	broad.mit.edu	37	20	35444561	35444561	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:35444561G>A	uc002xgd.1	-	5	897	c.570C>T	c.(568-570)AGC>AGT	p.S190S	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	190											0		Myeloproliferative disorder(115;0.00874)				CTGACAGCGCGCTGTCCAGGT	0.617000												
KIAA1755	85449	broad.mit.edu	37	20	36841597	36841597	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:36841597G>A	uc002xhy.1	-	14	3722	c.3450C>T	c.(3448-3450)CGC>CGT	p.R1150R	KIAA1755_uc002xhv.1_Silent_p.R214R|KIAA1755_uc002xhw.1_Silent_p.R205R|KIAA1755_uc002xhx.1_Silent_p.R428R	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	1150										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				GCAAATGCTCGCGGGCAGGGT	0.642000												
SLC32A1	140679	broad.mit.edu	37	20	37356214	37356214	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:37356214G>A	uc002xjc.2	+	2	773	c.510G>A	c.(508-510)CTG>CTA	p.L170L		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	170	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCGCGTGCCTGTACGAGGAGA	0.647000												
MMP9	4318	broad.mit.edu	37	20	44639240	44639240	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:44639240G>A	uc002xqz.2	+	3	509	c.490G>A	c.(490-492)GCA>ACA	p.A164T		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	164					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CAGCCGGGACGCAGACATCGT	0.642000												
SLC2A10	81031	broad.mit.edu	37	20	45353775	45353775	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:45353775C>T	uc002xsl.2	+	2	197	c.100C>T	c.(100-102)CTG>TTG	p.L34L		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	34	Helical; Name=1; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				AGGTGCCCTGCTGCCACTGCA	0.592000												
ZMYND8	23613	broad.mit.edu	37	20	45853197	45853197	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:45853197G>A	uc002xta.1	-	19	3223	c.2969C>T	c.(2968-2970)GCG>GTG	p.A990V	ZMYND8_uc010ghq.1_Missense_Mutation_p.A621V|ZMYND8_uc010ghr.1_Missense_Mutation_p.A892V|ZMYND8_uc002xst.1_Missense_Mutation_p.A872V|ZMYND8_uc002xsu.1_Missense_Mutation_p.A863V|ZMYND8_uc002xsv.1_Missense_Mutation_p.A918V|ZMYND8_uc002xsw.1_Missense_Mutation_p.A696V|ZMYND8_uc002xsx.1_Missense_Mutation_p.A696V|ZMYND8_uc002xsy.1_Missense_Mutation_p.A919V|ZMYND8_uc002xsz.1_Missense_Mutation_p.A881V|ZMYND8_uc010zxy.1_Missense_Mutation_p.A1017V|ZMYND8_uc002xtb.1_Missense_Mutation_p.A964V|ZMYND8_uc002xss.2_Missense_Mutation_p.A990V|ZMYND8_uc010zxz.1_Missense_Mutation_p.A858V|ZMYND8_uc002xtc.1_Missense_Mutation_p.A964V|ZMYND8_uc002xtd.1_Missense_Mutation_p.A939V|ZMYND8_uc002xte.1_Missense_Mutation_p.A944V|ZMYND8_uc010zya.1_Missense_Mutation_p.A990V|ZMYND8_uc002xtf.1_Missense_Mutation_p.A1010V|ZMYND8_uc002xsr.1_Missense_Mutation_p.A89V	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	990							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCGCATCTCCGCCATGGTCAG	0.587000												
ZMYND8	23613	broad.mit.edu	37	20	45878128	45878128	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:45878128C>T	uc002xta.1	-	13	1871	c.1617G>A	c.(1615-1617)CAG>CAA	p.Q539Q	ZMYND8_uc010ghq.1_Silent_p.Q216Q|ZMYND8_uc010ghr.1_Silent_p.Q514Q|ZMYND8_uc002xst.1_Silent_p.Q467Q|ZMYND8_uc002xsu.1_Silent_p.Q539Q|ZMYND8_uc002xsv.1_Silent_p.Q467Q|ZMYND8_uc002xsw.1_Silent_p.Q291Q|ZMYND8_uc002xsx.1_Silent_p.Q291Q|ZMYND8_uc002xsy.1_Silent_p.Q514Q|ZMYND8_uc002xsz.1_Silent_p.Q476Q|ZMYND8_uc010zxy.1_Silent_p.Q566Q|ZMYND8_uc002xtb.1_Silent_p.Q559Q|ZMYND8_uc002xss.2_Silent_p.Q539Q|ZMYND8_uc010zxz.1_Silent_p.Q534Q|ZMYND8_uc002xtc.1_Silent_p.Q559Q|ZMYND8_uc002xtd.1_Silent_p.Q534Q|ZMYND8_uc002xte.1_Silent_p.Q539Q|ZMYND8_uc010zya.1_Silent_p.Q539Q|ZMYND8_uc002xtf.1_Silent_p.Q559Q|ZMYND8_uc002xtg.2_Silent_p.Q533Q|ZMYND8_uc010ghs.1_Silent_p.Q533Q	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	539							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CAGGGGTGGACTGTTGCTGGA	0.498000												
ADNP	23394	broad.mit.edu	37	20	49510461	49510461	+	Silent	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:49510461G>T	uc002xvt.1	-	5	1135	c.790C>A	c.(790-792)CGA>AGA	p.R264R	ADNP_uc002xvu.1_Silent_p.R264R	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GGTTTGGATCGGGGAACCACT	0.488000												
SALL4	57167	broad.mit.edu	37	20	50407662	50407662	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:50407662C>A	uc002xwh.3	-	2	1461	c.1360G>T	c.(1360-1362)GGC>TGC	p.G454C	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	454					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TAGGGGATGCCATTGCCGGCC	0.547000												
ZNF217	7764	broad.mit.edu	37	20	52199236	52199236	+	Missense_Mutation	SNP	C	C	T	rs141827117		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:52199236C>T	uc002xwq.3	-	1	401	c.130G>A	c.(130-132)GCT>ACT	p.A44T	ZNF217_uc010gij.1_Missense_Mutation_p.A36T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	44					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGAACAACAGCGGTCCCTTTC	0.478000												
CTCFL	140690	broad.mit.edu	37	20	56099084	56099084	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:56099084C>T	uc010gix.1	-	1	840	c.178G>A	c.(178-180)GTC>ATC	p.V60I	CTCFL_uc010giw.1_Missense_Mutation_p.V60I|CTCFL_uc002xym.2_Missense_Mutation_p.V60I|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.V60I|CTCFL_uc010gjb.1_Missense_Mutation_p.V60I|CTCFL_uc010gjc.1_Missense_Mutation_p.V60I|CTCFL_uc010gjd.1_Missense_Mutation_p.V60I|CTCFL_uc010gje.2_Missense_Mutation_p.V60I|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.V60I|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.V60I|CTCFL_uc010gjk.1_Missense_Mutation_p.V60I|CTCFL_uc010gjl.1_Missense_Mutation_p.V60I	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	60					cell cycle|DNA methylation involved in gamete generation|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			ovary(2)|large_intestine(1)|skin(1)	4	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)			TCCTCCAGGACGCTGTCCTGG	0.592000												
APCDD1L	164284	broad.mit.edu	37	20	57035905	57035905	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:57035905T>C	uc002xze.1	-	4	1633	c.1447A>G	c.(1447-1449)ATA>GTA	p.I483V	APCDD1L_uc010zzp.1_Missense_Mutation_p.I494V	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	483	Helical; (Potential).					integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			AAGGGGGCTATGTGAAGACCC	0.617000												
LAMA5	3911	broad.mit.edu	37	20	60895632	60895632	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:60895632G>A	uc002ycq.2	-	50	6809	c.6742C>T	c.(6742-6744)CGG>TGG	p.R2248W		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2248	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)	CCTAGCCGCCGTGCGTCCTGC	0.697000												
CHRNA4	1137	broad.mit.edu	37	20	61981936	61981936	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:61981936G>A	uc002yes.2	-	5	1005	c.827C>T	c.(826-828)ACG>ATG	p.T276M	CHRNA4_uc002yet.1_Missense_Mutation_p.T100M|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.T205M|CHRNA4_uc002yev.1_Missense_Mutation_p.T100M|CHRNA4_uc010gkf.1_Missense_Mutation_p.T100M	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	276	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GATGCACAGCGTGATCTTCTC	0.592000												
KRTAP24-1	643803	broad.mit.edu	37	21	31655009	31655009	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:31655009C>T	uc002ynv.2	-	1	268	c.242G>A	c.(241-243)TGC>TAC	p.C81Y		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	81						keratin filament	structural molecule activity				0						AGTGGTACTGCAGGTCTTGGG	0.498000												
KRTAP6-3	337968	broad.mit.edu	37	21	31965058	31965058	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:31965058C>T	uc002yom.2	+	1	300	c.294C>T	c.(292-294)TGC>TGT	p.C98C		NM_181605	NP_853636			keratin associated protein 6-3												0						GCTATAGGTGCGGCTCTGGCT	0.353000												
SYNJ1	8867	broad.mit.edu	37	21	34058147	34058147	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:34058147C>A	uc002yqh.2	-	9	1146	c.1146G>T	c.(1144-1146)AAG>AAT	p.K382N	SYNJ1_uc011ads.1_Missense_Mutation_p.K343N|SYNJ1_uc002yqf.2_Missense_Mutation_p.K343N|SYNJ1_uc002yqg.2_Missense_Mutation_p.K343N|SYNJ1_uc002yqi.2_Missense_Mutation_p.K382N	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	343	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						ATTTTTCTGCCTTTCCTCCCT	0.338000												
RCAN1	1827	broad.mit.edu	37	21	35890534	35890534	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:35890534C>T	uc002yue.2	-	4	679	c.607G>A	c.(607-609)GCA>ACA	p.A203T	RCAN1_uc002yuc.2_Missense_Mutation_p.A122T|RCAN1_uc002yud.2_Missense_Mutation_p.A68T|RCAN1_uc002yub.2_Missense_Mutation_p.A148T	NM_004414	NP_004405	P53805	RCAN1_HUMAN	calcipressin 1 isoform a	203					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0						TCAGTCGCTGCGTGCAATTCA	0.483000												
DSCAM	1826	broad.mit.edu	37	21	41385022	41385022	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:41385022A>G	uc002yyq.1	-	33	6430	c.5978T>C	c.(5977-5979)CTC>CCC	p.L1993P	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1993	Cytoplasmic (Potential).			HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGGGAGTCGAGCAGTGATTC	0.537000												
DSCAM	1826	broad.mit.edu	37	21	41561090	41561090	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:41561090G>A	uc002yyq.1	-	12	2884	c.2432C>T	c.(2431-2433)GCG>GTG	p.A811V	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	811	Ig-like C2-type 9.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCACCATGCGCCGTGCAGCT	0.512000												
CRYAA	1409	broad.mit.edu	37	21	44589335	44589335	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:44589335C>T	uc002zdd.1	+	1	195	c.126C>T	c.(124-126)TCC>TCT	p.S42S		NM_000394	NP_000385	P02489	CRYAA_HUMAN	crystallin, alpha A	42					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			breast(1)|central_nervous_system(1)	2						TCCTGTCGTCCACCATCAGCC	0.632000												
KRTAP10-2	386679	broad.mit.edu	37	21	45971248	45971248	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:45971248C>T	uc002zfi.1	-	1	141	c.94G>A	c.(94-96)GGC>AGC	p.G32S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	32	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)	1						CTGGGGGTGCCGCAGGGGAGC	0.692000												
KRTAP12-2	353323	broad.mit.edu	37	21	46086433	46086433	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:46086433C>A	uc002zfu.2	-	1	412	c.371G>T	c.(370-372)GGG>GTG	p.G124V	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	keratin associated protein 12-2	124	20.|23 X 5 AA approximate repeats.					keratin filament					0						CTGGCAGCACCCAGAGGACTG	0.632000												
MCM3AP	8888	broad.mit.edu	37	21	47685900	47685900	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:47685900G>A	uc002zir.1	-	11	3006	c.2970C>T	c.(2968-2970)ATC>ATT	p.I990I	MCM3AP_uc002ziq.1_5'UTR	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	990					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					GGCTCTCCCCGATGTACTTGT	0.622000												
TRMT2A	27037	broad.mit.edu	37	22	20100722	20100722	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:20100722C>T	uc002zrk.1	-	11	1683	c.1468G>A	c.(1468-1470)GAG>AAG	p.E490K	TRMT2A_uc002zrl.1_Missense_Mutation_p.E490K|TRMT2A_uc002zrm.1_Missense_Mutation_p.E312K|TRMT2A_uc002zrn.1_Missense_Mutation_p.E508K	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	490					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						ACCAGGTCCTCGGCCCTCCCG	0.647000												
KLHL22	84861	broad.mit.edu	37	22	20800951	20800951	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:20800951C>T	uc002zsl.1	-	6	1427	c.1318G>A	c.(1318-1320)GCA>ACA	p.A440T	KLHL22_uc011ahr.1_Missense_Mutation_p.A297T	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	440	Kelch 3.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	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)			GTCGCGCCTGCGTGGGCATAC	0.592000												
SLC7A4	6545	broad.mit.edu	37	22	21384385	21384385	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:21384385C>T	uc002zud.2	-	3	1306	c.1238G>A	c.(1237-1239)CGC>CAC	p.R413H	SLC7A4_uc002zue.2_Missense_Mutation_p.R413H	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	413					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTTCTGGAAGCGCAGCACAAT	0.627000												
TOP3B	8940	broad.mit.edu	37	22	22319678	22319678	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:22319678G>A	uc002zvs.2	-	9	1357	c.922C>T	c.(922-924)CGT>TGT	p.R308C	TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_Missense_Mutation_p.R33C|TOP3B_uc010gtl.2_Missense_Mutation_p.R308C|TOP3B_uc002zvt.3_Missense_Mutation_p.R308C	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	308					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)		CTGGCCACACGCAGCATCTCC	0.567000												
GNAZ	2781	broad.mit.edu	37	22	23438372	23438372	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:23438372G>A	uc002zwu.1	+	2	1027	c.490G>A	c.(490-492)GCC>ACC	p.A164T	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	164						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GGAGCGCATCGCCGCAGCTGA	0.622000												
BCR	613	broad.mit.edu	37	22	23523754	23523754	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:23523754C>A	uc002zww.2	+	1	1203	c.607C>A	c.(607-609)CTG>ATG	p.L203M	BCR_uc002zwx.2_Missense_Mutation_p.L203M	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	203	Kinase.|Binding to ABL SH2-domain.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						CATCAGCTCCCTGGGCAGCCA	0.657000			T	ABL1| FGFR1|JAK2 	CML|ALL|AML							
GGT1	2678	broad.mit.edu	37	22	25024147	25024147	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:25024147C>T	uc003aan.1	+	14	1923	c.1436C>T	c.(1435-1437)ACG>ATG	p.T479M	GGT1_uc003aas.1_Missense_Mutation_p.T479M|GGT1_uc003aat.1_Missense_Mutation_p.T479M|GGT1_uc003aau.1_Missense_Mutation_p.T479M|GGT1_uc003aav.1_Missense_Mutation_p.T479M|GGT1_uc003aaw.1_Missense_Mutation_p.T479M|GGT1_uc003aax.1_Missense_Mutation_p.T479M|GGT1_uc003aay.1_Missense_Mutation_p.T135M	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	479	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CAGATCACCACGGCCACTGCA	0.652000												
LIF	3976	broad.mit.edu	37	22	30639661	30639661	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:30639661G>A	uc003agz.2	-	3	700	c.588C>T	c.(586-588)GCC>GCT	p.A196A	LIF_uc011aks.1_3'UTR|uc003aha.2_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	leukemia inhibitory factor (cholinergic	196					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding				0			Epithelial(10;0.171)			GGGCCAACACGGCGATGATCT	0.572000												
OSM	5008	broad.mit.edu	37	22	30661062	30661062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:30661062G>A	uc003ahb.2	-	2	158	c.106C>T	c.(106-108)CGC>TGC	p.R36C		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	36					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			AGGAGCACGCGGTACTCTTTC	0.577000												
GAL3ST1	9514	broad.mit.edu	37	22	30951307	30951307	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:30951307A>G	uc003aig.1	-	4	1045	c.905T>C	c.(904-906)ATG>ACG	p.M302T	GAL3ST1_uc003aih.1_Missense_Mutation_p.M302T|GAL3ST1_uc003aii.1_Missense_Mutation_p.M302T|GAL3ST1_uc010gvz.1_Missense_Mutation_p.M302T	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	302	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						GGAGTCCAGCATGTTCCAGGC	0.706000												
MCM5	4174	broad.mit.edu	37	22	35808554	35808554	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:35808554G>A	uc003anu.3	+	8	1065	c.971G>A	c.(970-972)CGC>CAC	p.R324H	MCM5_uc010gwr.2_Missense_Mutation_p.R133H|MCM5_uc003anv.3_Missense_Mutation_p.R281H|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Missense_Mutation_p.R108H	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	324					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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						GAGTTCCGTCGCCTGGCTGCC	0.607000												
MYH9	4627	broad.mit.edu	37	22	36723530	36723530	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:36723530C>T	uc003apg.2	-	4	725	c.494G>A	c.(493-495)CGA>CAA	p.R165Q	MYH9_uc003aph.1_Missense_Mutation_p.R29Q|MYH9_uc003api.1_Missense_Mutation_p.R165Q	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	165	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TTGATCTTCTCGGTCTGAAAC	0.502000			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
FOXRED2	80020	broad.mit.edu	37	22	36902310	36902310	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:36902310G>A	uc003apn.3	-	1	268	c.160C>T	c.(160-162)CGC>TGC	p.R54C	FOXRED2_uc003apo.3_Missense_Mutation_p.R54C|FOXRED2_uc003app.3_Missense_Mutation_p.R54C	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	54					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						GCGTAGTCGCGTCCAGCGCGC	0.711000												
TRIOBP	11078	broad.mit.edu	37	22	38130975	38130975	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:38130975G>A	uc003atr.2	+	9	4903	c.4632G>A	c.(4630-4632)GCG>GCA	p.A1544A	TRIOBP_uc003atu.2_Silent_p.A1372A	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1544					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CAGAGGGAGCGTGTCCATACC	0.677000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
APOBEC3G	60489	broad.mit.edu	37	22	39477083	39477083	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:39477083C>T	uc003awx.2	+	3	659	c.317C>T	c.(316-318)ACG>ATG	p.T106M	APOBEC3G_uc003awy.2_Missense_Mutation_p.T39M	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	106					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2	Melanoma(58;0.04)					GATATGGCCACGTTCCTGGCC	0.562000												
RPL3	6122	broad.mit.edu	37	22	39710758	39710758	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:39710758C>T	uc003axi.2	-	6	850	c.782G>A	c.(781-783)CGT>CAT	p.R261H	RPL3_uc003axh.2_Missense_Mutation_p.R212H|RPL3_uc003axj.2_Missense_Mutation_p.R109H|RPL3_uc010gxx.2_Missense_Mutation_p.R209H|RPL3_uc003axg.2_Missense_Mutation_p.R209H|RPL3_uc003axk.1_Missense_Mutation_p.R109H	NM_000967	NP_000958	P39023	RL3_HUMAN	ribosomal protein L3 isoform a	261					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(1)	2	Melanoma(58;0.04)					GAAGGCTACACGAGCAGGATG	0.612000												
CSDC2	27254	broad.mit.edu	37	22	41969684	41969684	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:41969684G>A	uc003bak.1	+	3	499	c.202G>A	c.(202-204)GTG>ATG	p.V68M		NM_014460	NP_055275	Q9Y534	CSDC2_HUMAN	RNA-binding protein pippin	68	CSD.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding				0						AGCTGGCCCCGTGTTCAAGGG	0.612000												
TCF20	6942	broad.mit.edu	37	22	42608248	42608248	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:42608248G>A	uc003bcj.1	-	1	3198	c.3064C>T	c.(3064-3066)CGG>TGG	p.R1022W	TCF20_uc003bck.1_Missense_Mutation_p.R1022W|TCF20_uc003bnt.2_Missense_Mutation_p.R1022W	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						CCTCTGCTCCGCCCAGGAGAC	0.547000												
PACSIN2	11252	broad.mit.edu	37	22	43272302	43272302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:43272302C>T	uc010gzg.2	-	10	1411	c.1189G>A	c.(1189-1191)GAC>AAC	p.D397N	PACSIN2_uc003bdg.3_Missense_Mutation_p.D397N|PACSIN2_uc003bde.3_Missense_Mutation_p.D397N|PACSIN2_uc003bdf.3_Missense_Mutation_p.D356N	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	397					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				TCTGACCAGTCGGTGGGATAG	0.627000												
SMC1B	27127	broad.mit.edu	37	22	45802684	45802684	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:45802684A>G	uc003bgc.2	-	3	413	c.361T>C	c.(361-363)TTG>CTG	p.L121L	SMC1B_uc003bgd.2_Silent_p.L121L|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	121					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATCTTTTCCAACTCTGCAATG	0.299000												
ATXN10	25814	broad.mit.edu	37	22	46085740	46085740	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:46085740C>T	uc003bgm.1	+	2	522	c.265C>T	c.(265-267)CGC>TGC	p.R89C	ATXN10_uc011aqt.1_Intron|ATXN10_uc003bgn.1_5'UTR	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	89					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CAGGTGTCTTCGCAATGCTTG	0.438000												
CELSR1	9620	broad.mit.edu	37	22	46792521	46792521	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:46792521C>T	uc003bhw.1	-	13	5824	c.5824G>A	c.(5824-5826)GGG>AGG	p.G1942R	CELSR1_uc011arc.1_Missense_Mutation_p.G263R	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1942	Extracellular (Potential).|EGF-like 6; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGTACGGCCCGTAGTGACTG	0.622000												
PANX2	56666	broad.mit.edu	37	22	50615987	50615987	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:50615987G>A	uc003bjn.3	+	2	846	c.846G>A	c.(844-846)CCG>CCA	p.P282P	PANX2_uc003bjp.3_Silent_p.P148P|PANX2_uc003bjo.3_Silent_p.P282P	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	282	Extracellular (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GCAAGCTCCCGTCCGTGCAAC	0.662000												
SELO	83642	broad.mit.edu	37	22	50648623	50648623	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:50648623C>T	uc011arr.1	+	4	1011	c.953C>T	c.(952-954)ACG>ATG	p.T318M	SELO_uc010hap.2_Missense_Mutation_p.T129M|SELO_uc003bjy.2_Translation_Start_Site|SELO_uc003bjz.2_Translation_Start_Site	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	318											0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		ACGCGGCGCACGGCGCGGATG	0.672000											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SELO	83642	broad.mit.edu	37	22	50649342	50649342	+	Splice_Site	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:50649342T>C	uc011arr.1	+	5	1409	c.1351_splice	c.e5+2	p.G451_splice	SELO_uc010hap.2_Splice_Site_p.G262_splice|SELO_uc003bjy.2_Splice_Site_p.G131_splice|SELO_uc003bjz.2_Splice_Site_p.G131_splice	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O												0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		ATCTGACCGGTGAGTGACCCA	0.612000											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SBF1	6305	broad.mit.edu	37	22	50885774	50885774	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:50885774C>T	uc003blh.2	-	40	5755	c.5560G>A	c.(5560-5562)GTG>ATG	p.V1854M	SBF1_uc003ble.2_Missense_Mutation_p.V318M|SBF1_uc003blf.2_Missense_Mutation_p.V330M|SBF1_uc011arx.1_Missense_Mutation_p.V1492M	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1828	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTCGTCCACAGTCTTAGGG	0.647000												
HRH1	3269	broad.mit.edu	37	3	11301418	11301418	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:11301418C>A	uc010hdr.2	+	2	1037	c.695C>A	c.(694-696)CCT>CAT	p.P232H	HRH1_uc010hds.2_Missense_Mutation_p.P232H|HRH1_uc010hdt.2_Missense_Mutation_p.P232H|HRH1_uc003bwb.3_Missense_Mutation_p.P232H	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	232	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	AGGTCCCTCCCTTCCTTCTCA	0.532000												
C3orf31	132001	broad.mit.edu	37	3	11871205	11871205	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:11871205G>A	uc003bwh.2	-	4	787	c.545C>T	c.(544-546)GCC>GTC	p.A182V	C3orf31_uc003bwj.2_Missense_Mutation_p.A182V|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Missense_Mutation_p.A182V|C3orf31_uc011aup.1_RNA	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	MMP37-like protein, mitochondrial precursor	182					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					0						GGAGAGACCGGCAATCTCTAT	0.473000												
SYN2	6854	broad.mit.edu	37	3	12211375	12211375	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:12211375C>A	uc003bwm.2	+	14	1441	c.1277C>A	c.(1276-1278)CCT>CAT	p.P426H	SYN2_uc003bwl.1_Missense_Mutation_p.P426H|SYN2_uc003bwn.2_Missense_Mutation_p.P100H	NM_133625	NP_598328	Q92777	SYN2_HUMAN	synapsin II isoform IIa	426					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2						GCCCTGTCTCCTCAGAGACCC	0.537000												
TSEN2	80746	broad.mit.edu	37	3	12545181	12545181	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:12545181C>T	uc003bxc.2	+	5	1116	c.729C>T	c.(727-729)ATC>ATT	p.I243I	TSEN2_uc003bwy.2_Silent_p.I243I|TSEN2_uc003bwz.2_Silent_p.I184I|TSEN2_uc003bxa.2_Silent_p.I243I|TSEN2_uc011auq.1_Silent_p.I243I|TSEN2_uc003bxb.2_Silent_p.I243I|TSEN2_uc011aur.1_Silent_p.I152I	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	tRNA-intron nuclease 2 isoform 1	243					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(1)	1						GCCAGCACATCGGCCTCCTGC	0.602000												
CAND2	23066	broad.mit.edu	37	3	12869032	12869032	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:12869032C>A	uc003bxk.2	+	13	3353	c.3304C>A	c.(3304-3306)CTG>ATG	p.L1102M	CAND2_uc003bxj.2_Missense_Mutation_p.L985M	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	1102					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TGAGAGCTGCCTGGGCCAGCT	0.567000												
NUP210	23225	broad.mit.edu	37	3	13381471	13381471	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:13381471G>A	uc003bxv.1	-	25	3437	c.3354C>T	c.(3352-3354)AGC>AGT	p.S1118S		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1118	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					CCAGCGCAACGCTCTCATTGC	0.627000												
ANKRD28	23243	broad.mit.edu	37	3	15765943	15765943	+	Silent	SNP	T	T	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:15765943T>G	uc003caj.1	-	7	782	c.639A>C	c.(637-639)GCA>GCC	p.A213A	ANKRD28_uc003cai.1_Silent_p.A59A|ANKRD28_uc011avz.1_Silent_p.A59A|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Silent_p.A243A|ANKRD28_uc003cam.2_Silent_p.A246A	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	213	ANK 6.					nucleoplasm	protein binding			breast(1)	1						CACTAGAGGCTGCTGCATGAA	0.373000												
KCNH8	131096	broad.mit.edu	37	3	19436644	19436644	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:19436644C>T	uc003cbk.1	+	7	1213	c.1018C>T	c.(1018-1020)CGT>TGT	p.R340C	KCNH8_uc011awe.1_Missense_Mutation_p.R340C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	340	Helical; Voltage-sensor; Name=Segment S4; (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						GCGTCTTTTGCGTCTGCTGCA	0.488000												
ZNF385D	79750	broad.mit.edu	37	3	21552413	21552413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:21552413C>T	uc003cce.2	-	4	787	c.379G>A	c.(379-381)GCA>ACA	p.A127T	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	127						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						GTAGTCTTTGCGCTGTCCTTG	0.468000												
MLH1	4292	broad.mit.edu	37	3	37090086	37090086	+	Nonsense_Mutation	SNP	C	C	T	rs63750131		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:37090086C>T	uc003cgl.2	+	17	2035	c.1975C>T	c.(1975-1977)CGA>TGA	p.R659*	MLH1_uc011aye.1_Nonsense_Mutation_p.R418*|MLH1_uc011ayb.1_Nonsense_Mutation_p.R418*|MLH1_uc010hge.2_Intron|MLH1_uc003cgn.3_Nonsense_Mutation_p.R418*|MLH1_uc011ayc.1_Nonsense_Mutation_p.R561*|MLH1_uc011ayd.1_Nonsense_Mutation_p.R418*|MLH1_uc003cgo.2_Nonsense_Mutation_p.R418*|MLH1_uc010hgk.2_Nonsense_Mutation_p.R246*|MLH1_uc010hgn.2_Intron|MLH1_uc010hgm.2_Intron|MLH1_uc010hgo.2_Intron|MLH1_uc010hgp.2_Intron|MLH1_uc010hgq.2_Intron	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	659			R -> Q.|R -> L (in HNPCC2).|R -> P (in HNPCC2; interacts only very weakly with PMS2; equivalent substitution in yeast causes almost complete loss of function in a mismatch repair assay; abrogates interaction with EXO1).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						CTTCATTCTTCGACTAGCCAC	0.478000		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
ITGA9	3680	broad.mit.edu	37	3	37514892	37514892	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:37514892G>A	uc003chd.2	+	3	414	c.361G>A	c.(361-363)GAT>AAT	p.D121N	ITGA9_uc003chc.2_Missense_Mutation_p.D121N	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	121	Extracellular (Potential).|FG-GAP 2.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGAAGACCGCGATGATGAGTG	0.617000												
ITGA9	3680	broad.mit.edu	37	3	37574910	37574910	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:37574910C>T	uc003chd.2	+	14	1532	c.1479C>T	c.(1477-1479)AAC>AAT	p.N493N	ITGA9_uc003chc.2_Silent_p.N493N	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	493	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACTGCCTGAACGTCACCACCT	0.567000												
CTDSPL	10217	broad.mit.edu	37	3	37998618	37998618	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:37998618T>C	uc003chg.2	+	3	273	c.251T>C	c.(250-252)GTC>GCC	p.V84A	CTDSPL_uc003chh.2_Intron|CTDSPL_uc003chi.2_Intron	NM_001008392	NP_001008393	O15194	CTDSL_HUMAN	small CTD phosphatase 3 isoform 1	84						nucleus	metal ion binding|phosphoprotein phosphatase activity				0		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		CAGAGGCAGGTCATTCCCATA	0.323000												
XIRP1	165904	broad.mit.edu	37	3	39227527	39227527	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:39227527G>A	uc003cjk.1	-	2	3631	c.3410C>T	c.(3409-3411)ACA>ATA	p.T1137I	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1137							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATCCTGAATTGTCACCCACCC	0.617000												
XCR1	2829	broad.mit.edu	37	3	46062693	46062693	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:46062693C>T	uc003cpe.2	-	3	971	c.747G>A	c.(745-747)ACG>ACA	p.T249T	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Silent_p.T249T	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	249	Helical; Name=6; (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCCGAAACAGCGTCTGCAGAA	0.597000												
SETD2	29072	broad.mit.edu	37	3	47162245	47162245	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:47162245C>T	uc003cqs.2	-	3	3934	c.3881G>A	c.(3880-3882)GGT>GAT	p.G1294D	SETD2_uc003cqv.2_Missense_Mutation_p.G1283D	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACGTGTCCCACCATACTGTTC	0.473000			N|F|S|Mis		clear cell renal carcinoma							
WDR6	11180	broad.mit.edu	37	3	49049119	49049119	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:49049119G>A	uc003cvj.2	+	2	380	c.242G>A	c.(241-243)CGG>CAG	p.R81Q	WDR6_uc011bbx.1_Intron|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.R25Q|WDR6_uc011bbz.1_5'UTR	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	51					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGGCATCTGCGGATGATAAAG	0.537000												
DAG1	1605	broad.mit.edu	37	3	49568875	49568875	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:49568875C>T	uc003cxc.3	+	3	1349	c.931C>T	c.(931-933)CGG>TGG	p.R311W		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	311	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAAACGCGTCCGGAGGCAGAT	0.627000												
ZMYND10	51364	broad.mit.edu	37	3	50379246	50379246	+	Silent	SNP	C	C	T	rs143000634		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:50379246C>T	uc003dag.1	-	10	1262	c.1116G>A	c.(1114-1116)GCG>GCA	p.A372A	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Silent_p.A367A|ZMYND10_uc003dah.1_Silent_p.A293A	NM_015896	NP_056980	O75800	ZMY10_HUMAN	zinc finger, MYND domain-containing 10	372						cytoplasm	protein binding|zinc ion binding			lung(4)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTTACCTTCGCGCCTGCAGCC	0.632000										TSP Lung(30;0.18)		
DOCK3	1795	broad.mit.edu	37	3	51273835	51273835	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:51273835C>T	uc011bds.1	+	20	2000	c.1977C>T	c.(1975-1977)TAC>TAT	p.Y659Y		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	659						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)		CAGAGAAGTACGGCCTGTTGG	0.368000												
RBM15B	29890	broad.mit.edu	37	3	51431126	51431126	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:51431126G>A	uc003dbd.2	+	1	2396	c.2296G>A	c.(2296-2298)GCC>ACC	p.A766T		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	766	Interaction with Epstein-Barr virus BMLF1.|SPOC.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTGAAGATCGCCCAGCGCCT	0.607000												
GPR62	118442	broad.mit.edu	37	3	51990299	51990299	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:51990299C>T	uc003dca.3	+	1	970	c.631C>T	c.(631-633)CGC>TGC	p.R211C		NM_080865	NP_543141	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	211	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACGGCCGGCGCGCGGGTCCCG	0.761000												
CCDC66	285331	broad.mit.edu	37	3	56651196	56651196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:56651196G>T	uc003dhz.2	+	14	1987	c.1900G>T	c.(1900-1902)GAG>TAG	p.E634*	CCDC66_uc003dhy.2_Nonsense_Mutation_p.E270*|CCDC66_uc003dhu.2_Nonsense_Mutation_p.E600*|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_Nonsense_Mutation_p.E2*	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	634										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATCATTAATGGAGAGGGACAT	0.313000												
PTPRG	5793	broad.mit.edu	37	3	62189088	62189088	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:62189088C>T	uc003dlb.2	+	12	2338	c.1619C>T	c.(1618-1620)ACG>ATG	p.T540M	PTPRG_uc003dlc.2_Missense_Mutation_p.T540M	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	540	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CGCCTCCCGACGGCCGCCTCA	0.682000												
ATXN7	6314	broad.mit.edu	37	3	63973914	63973914	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:63973914G>A	uc003dlw.3	+	9	1828	c.1275G>A	c.(1273-1275)CCG>CCA	p.P425P	ATXN7_uc003dlv.2_Silent_p.P425P|ATXN7_uc010hnv.2_Silent_p.P425P|ATXN7_uc011bfn.1_Silent_p.P280P	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	425	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CACAGGAGCCGCACCAAAACC	0.552000												
MAGI1	9223	broad.mit.edu	37	3	66024037	66024037	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:66024037C>T	uc003dmn.2	-	1	473	c.-53G>A	c.(-55--51)CTGTG>CTATG		MAGI1_uc003dmm.2_Translation_Start_Site|MAGI1_uc003dmo.2_Translation_Start_Site|MAGI1_uc003dmp.2_Translation_Start_Site|MAGI1_uc003dmr.2_Translation_Start_Site	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ						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)		GTGCCCCCCACAGCACGAGCC	0.522000												
C3orf64	285203	broad.mit.edu	37	3	69053564	69053564	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:69053564C>T	uc003dnl.2	-	8	990	c.585G>A	c.(583-585)ACG>ACA	p.T195T	C3orf64_uc003dnj.2_5'Flank|C3orf64_uc003dnk.2_Silent_p.T195T|C3orf64_uc011bfw.1_RNA|C3orf64_uc003dnm.1_RNA	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	AER61 glycosyltransferase	195						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		GACCTTCAGACGTCAATGTAC	0.383000												
PDZRN3	23024	broad.mit.edu	37	3	73432925	73432925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:73432925C>T	uc003dpl.1	-	10	2888	c.2792G>A	c.(2791-2793)CGC>CAC	p.R931H	PDZRN3_uc011bgh.1_Missense_Mutation_p.R588H|PDZRN3_uc010hoe.1_Missense_Mutation_p.R629H|PDZRN3_uc011bgf.1_Missense_Mutation_p.R648H|PDZRN3_uc011bgg.1_Missense_Mutation_p.R651H	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	931							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)		GGTGATGTAGCGCGTCCCGTC	0.677000												
ROBO1	6091	broad.mit.edu	37	3	78766491	78766491	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:78766491T>C	uc003dqe.2	-	7	1059	c.851A>G	c.(850-852)GAG>GGG	p.E284G	ROBO1_uc003dqb.2_Missense_Mutation_p.E245G|ROBO1_uc003dqc.2_Missense_Mutation_p.E245G|ROBO1_uc003dqd.2_Missense_Mutation_p.E245G|ROBO1_uc003dqf.1_5'Flank	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	284	Extracellular (Potential).|Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACCTCGGGCCTCACATTTAAA	0.423000												
DCBLD2	131566	broad.mit.edu	37	3	98600451	98600451	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:98600451A>T	uc003dtd.2	-	2	729	c.366T>A	c.(364-366)GAT>GAA	p.D122E	DCBLD2_uc003dte.2_Missense_Mutation_p.D122E|DCBLD2_uc003dtf.1_RNA	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	122	Extracellular (Potential).|CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						AAGAATCAGAATCTTCAATGT	0.368000												
POLQ	10721	broad.mit.edu	37	3	121207935	121207935	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:121207935C>T	uc003eee.3	-	16	3972	c.3843G>A	c.(3841-3843)CAG>CAA	p.Q1281Q	POLQ_uc003eed.2_Silent_p.Q453Q	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1281					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AATTCTCATGCTGGCCTTCTG	0.348000								DNA_polymerases_(catalytic_subunits)				
CCDC14	64770	broad.mit.edu	37	3	123666111	123666111	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:123666111G>C	uc011bjx.1	-	8	975	c.884C>G	c.(883-885)GCA>GGA	p.A295G	CCDC14_uc003egv.3_Intron|CCDC14_uc003egx.3_Missense_Mutation_p.A95G|CCDC14_uc010hrt.2_Missense_Mutation_p.A254G|CCDC14_uc003egy.3_Missense_Mutation_p.A95G|CCDC14_uc003egz.2_Missense_Mutation_p.A95G	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	295						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGTACAGGTTGCAGAAACTGT	0.393000												
SNX4	8723	broad.mit.edu	37	3	125216990	125216990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:125216990C>T	uc003eib.2	-	3	354	c.312G>A	c.(310-312)TGG>TGA	p.W104*	SNX4_uc011bkf.1_5'UTR	NM_003794	NP_003785	O95219	SNX4_HUMAN	sorting nexin 4	104	PX.				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4						TATATCGCCGCCATAGTGAGT	0.378000												
KLF15	28999	broad.mit.edu	37	3	126071104	126071104	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:126071104A>G	uc011bkk.1	-	2	844	c.662T>C	c.(661-663)CTG>CCG	p.L221P		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	221						nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		CTGGATCTGCAGCAACACTGG	0.672000												
PLXNA1	5361	broad.mit.edu	37	3	126736387	126736387	+	Silent	SNP	C	C	T	rs148780407		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:126736387C>T	uc003ejg.2	+	17	3331	c.3327C>T	c.(3325-3327)AAC>AAT	p.N1109N		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1132	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TCATGGACAACGTGCGCTCCC	0.652000												
DNAJB8	165721	broad.mit.edu	37	3	128181483	128181483	+	Silent	SNP	G	G	A	rs148414049		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:128181483G>A	uc003ekk.1	-	3	2267	c.606C>T	c.(604-606)AAC>AAT	p.N202N	uc003ekl.1_5'Flank	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	DnaJ homolog, subfamily B, member 8	202					protein folding		heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(114;0.177)		GCTCCTGCCCGTTCTCCACGA	0.607000												
TOPBP1	11073	broad.mit.edu	37	3	133327401	133327401	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:133327401T>C	uc003eps.2	-	27	4535	c.4403A>G	c.(4402-4404)TAC>TGC	p.Y1468C		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1468	BRCT 8.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						ATCAGCAATGTATTCTGTTCT	0.388000								Other_conserved_DNA_damage_response_genes				
NCK1	4690	broad.mit.edu	37	3	136665004	136665004	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:136665004T>C	uc003erh.2	+	3	913	c.806T>C	c.(805-807)ATT>ACT	p.I269T	NCK1_uc011bme.1_Missense_Mutation_p.I205T	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	269					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						TGTGATTACATTAGGCCTTCA	0.403000												
RBP1	5947	broad.mit.edu	37	3	139257784	139257784	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:139257784G>A	uc003eti.2	-	2	388	c.277C>T	c.(277-279)CGC>TGC	p.R93C	RBP1_uc011bmx.1_Missense_Mutation_p.R93C|RBP1_uc010huj.2_RNA|RBP1_uc011bmy.1_Missense_Mutation_p.R93C	NM_002899	NP_002890	P09455	RET1_HUMAN	retinol binding protein 1, cellular isoform a	31						cytoplasm	retinal binding|retinol binding|transporter activity				0					Vitamin A(DB00162)	GCGATTTTGCGCAAGGCCACA	0.552000												
ACPL2	92370	broad.mit.edu	37	3	141011879	141011879	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:141011879C>T	uc003etu.2	+	8	1574	c.1275C>T	c.(1273-1275)GGC>GGT	p.G425G	ACPL2_uc003etv.2_Silent_p.G425G|ACPL2_uc011bna.1_Silent_p.G387G|ACPL2_uc011bnb.1_Silent_p.G408G	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2 precursor	425						extracellular region	acid phosphatase activity			skin(1)	1						TTTACAATGGCGTCGATGTCA	0.512000												
RASA2	5922	broad.mit.edu	37	3	141295889	141295889	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:141295889C>T	uc003etz.1	+	15	1531	c.1531C>T	c.(1531-1533)CGT>TGT	p.R511C	RASA2_uc010huq.1_Missense_Mutation_p.R511C|RASA2_uc003eua.1_Missense_Mutation_p.R511C|RASA2_uc011bnc.1_Missense_Mutation_p.R103C	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	511	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						TGTATTTCTTCGTTTCTTTGC	0.358000												
GPR160	26996	broad.mit.edu	37	3	169802275	169802275	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:169802275G>A	uc003fgi.2	+	4	1105	c.515G>A	c.(514-516)CGT>CAT	p.R172H	GPR160_uc010hwq.2_Missense_Mutation_p.R172H	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	172	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCTTATTCTCGTCACTGTCCT	0.378000												
CCDC39	339829	broad.mit.edu	37	3	180364954	180364954	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:180364954A>G	uc010hxe.2	-	11	1555	c.1440T>C	c.(1438-1440)CTT>CTC	p.L480L	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	480	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTTTGCTTCAAGCGCTTGTT	0.343000												
FAM131A	131408	broad.mit.edu	37	3	184062384	184062384	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:184062384G>A	uc003fog.2	+	3	1998	c.634G>A	c.(634-636)GAC>AAC	p.D212N	FAM131A_uc003fob.1_Missense_Mutation_p.D120N|FAM131A_uc003foc.2_Missense_Mutation_p.D158N|FAM131A_uc003foe.2_Missense_Mutation_p.D158N	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	212						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTGAGAGCGACTGCTCACA	0.697000												
IGF2BP2	10644	broad.mit.edu	37	3	185363326	185363326	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:185363326C>T	uc003fpo.2	-	16	1872	c.1793G>A	c.(1792-1794)AGC>AAC	p.S598N	IGF2BP2_uc010hyi.2_Missense_Mutation_p.S541N|IGF2BP2_uc010hyj.2_Missense_Mutation_p.S535N|IGF2BP2_uc010hyk.2_Missense_Mutation_p.S462N|IGF2BP2_uc010hyl.2_Missense_Mutation_p.S492N|IGF2BP2_uc003fpp.2_Missense_Mutation_p.S555N|IGF2BP2_uc003fpq.2_Missense_Mutation_p.S603N	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	598					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCCTCACTTGCTGCGCTGTGA	0.552000												
BCL6	604	broad.mit.edu	37	3	187447327	187447327	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:187447327C>T	uc003frp.3	-	5	1323	c.866G>A	c.(865-867)CGA>CAA	p.R289Q	BCL6_uc011bsf.1_Missense_Mutation_p.R289Q|BCL6_uc010hza.2_Missense_Mutation_p.R187Q|BCL6_uc003frq.1_Missense_Mutation_p.R289Q	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	289					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGGGGCATTTCGGGCTGAGGG	0.542000			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL							
CLDN1	9076	broad.mit.edu	37	3	190030818	190030818	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:190030818C>T	uc003fsh.2	-	2	451	c.231G>A	c.(229-231)TTG>TTA	p.L77L		NM_021101	NP_066924	O95832	CLD1_HUMAN	claudin 1	77	Extracellular (Potential).				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(1)	1	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		GGGTTGCTTGCAATGTGCCTG	0.438000												
PCYT1A	5130	broad.mit.edu	37	3	195975116	195975116	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:195975116G>A	uc003fwg.2	-	5	469	c.296C>T	c.(295-297)GCG>GTG	p.A99V	PCYT1A_uc003fwh.2_Missense_Mutation_p.A99V	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	99	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)	AAGGTTCTTCGCTTGCATCAG	0.428000												
MFI2	4241	broad.mit.edu	37	3	196736547	196736547	+	Silent	SNP	G	G	A	rs146339339	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:196736547G>A	uc003fxk.3	-	11	1580	c.1467C>T	c.(1465-1467)CCC>CCT	p.P489P		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	489	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GGGCACCCACGGGGACATCCC	0.627000												
SLC26A1	10861	broad.mit.edu	37	4	983202	983202	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:983202G>A	uc003gcb.2	-	4	1903	c.1525C>T	c.(1525-1527)CGC>TGC	p.R509C	SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.R509C	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	509						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGGCGGTGCGTGGGCGTTGG	0.706000												
FAM193A	8603	broad.mit.edu	37	4	2641566	2641566	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:2641566C>T	uc010icl.2	+	4	621	c.270C>T	c.(268-270)CCC>CCT	p.P90P	FAM193A_uc010ick.2_Silent_p.P290P|FAM193A_uc003gfd.2_Silent_p.P90P|FAM193A_uc011bvm.1_Silent_p.P90P|FAM193A_uc011bvn.1_Silent_p.P90P|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	90										ovary(3)	3						GCAACTTGCCCGCACTGGTGT	0.463000												
HTT	3064	broad.mit.edu	37	4	3158843	3158843	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:3158843T>A	uc011bvq.1	+	29	3821	c.3676T>A	c.(3676-3678)TCC>ACC	p.S1226T		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1224					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AACAAGTAAATCCTCATCACT	0.388000												
HTT	3064	broad.mit.edu	37	4	3215861	3215861	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:3215861C>T	uc011bvq.1	+	51	7102	c.6957C>T	c.(6955-6957)GCC>GCT	p.A2319A		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2317					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCCTGGAGGCCGGTGAGTCCC	0.453000												
ZBTB49	166793	broad.mit.edu	37	4	4304082	4304082	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:4304082G>A	uc003ghu.2	+	3	694	c.519G>A	c.(517-519)TCG>TCA	p.S173S	ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'UTR	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TGGATGAATCGCATCCGCATG	0.473000												
PPP2R2C	5522	broad.mit.edu	37	4	6349592	6349592	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:6349592C>T	uc003gjc.2	-	6	1141	c.771G>A	c.(769-771)CTG>CTA	p.L257L	PPP2R2C_uc003gjb.2_Silent_p.L240L|PPP2R2C_uc011bwd.1_Silent_p.L250L|PPP2R2C_uc011bwe.1_Silent_p.L250L|PPP2R2C_uc003gja.2_Silent_p.L257L|PPP2R2C_uc003gjd.1_Silent_p.L345L	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	257	WD 4.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						GCTTGTCACACAGGGCAGCTG	0.637000												
MAN2B2	23324	broad.mit.edu	37	4	6588807	6588807	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:6588807C>T	uc003gjf.1	+	4	512	c.476C>T	c.(475-477)ACG>ATG	p.T159M	MAN2B2_uc003gje.1_Missense_Mutation_p.T159M|MAN2B2_uc011bwf.1_Missense_Mutation_p.T159M	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	159					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TCTGCCACGACGCCCACCCTA	0.607000												
ABLIM2	84448	broad.mit.edu	37	4	7985012	7985012	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:7985012G>A	uc003gko.2	-	19	1844	c.1701C>T	c.(1699-1701)GAC>GAT	p.D567D	ABLIM2_uc003gkk.2_Silent_p.D192D|ABLIM2_uc003gkl.2_Silent_p.D295D|ABLIM2_uc003gkj.3_Silent_p.D601D|ABLIM2_uc003gkm.3_Silent_p.D515D|ABLIM2_uc003gkp.2_Silent_p.D487D|ABLIM2_uc003gkq.2_Silent_p.D528D|ABLIM2_uc003gkr.2_Silent_p.D477D|ABLIM2_uc003gki.2_RNA	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	567	HP.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						TCCGGTCCACGTCTTTGGGCA	0.592000												
SH3TC1	54436	broad.mit.edu	37	4	8216302	8216302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:8216302C>T	uc003gkv.3	+	5	577	c.476C>T	c.(475-477)GCT>GTT	p.A159V	SH3TC1_uc003gkw.3_Missense_Mutation_p.A83V|SH3TC1_uc003gkx.3_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	159							binding			large_intestine(2)|pancreas(1)	3						ACCTACCATGCTCTCGGTAAA	0.502000												
HTRA3	94031	broad.mit.edu	37	4	8307814	8307814	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:8307814G>A	uc003gla.2	+	9	1517	c.1313G>A	c.(1312-1314)CGG>CAG	p.R438Q		NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	438	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						GAGGTGCGGCGGGGGAACGAC	0.632000												
ZNF518B	85460	broad.mit.edu	37	4	10445916	10445916	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:10445916C>T	uc003gmn.2	-	3	2524	c.2037G>A	c.(2035-2037)CCG>CCA	p.P679P		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						CCAAAGATGACGGCTTCCCAC	0.443000												
BOD1L	259282	broad.mit.edu	37	4	13601751	13601751	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:13601751G>A	uc003gmz.1	-	10	6890	c.6773C>T	c.(6772-6774)ACG>ATG	p.T2258M	BOD1L_uc010idr.1_Missense_Mutation_p.T1595M	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2258							DNA binding			ovary(5)|breast(1)	6						CACCGAGCTCGTAGAGATGAT	0.547000												
SEL1L3	23231	broad.mit.edu	37	4	25760663	25760663	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:25760663C>T	uc003gru.3	-	21	3135	c.2983G>A	c.(2983-2985)GAG>AAG	p.E995K	SEL1L3_uc003grt.2_Missense_Mutation_p.E43K|SEL1L3_uc003grv.2_Missense_Mutation_p.E402K	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	995						integral to membrane	binding				0						GTACCTTCCTCGATTAGCAGG	0.393000												
STIM2	57620	broad.mit.edu	37	4	27024297	27024297	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:27024297G>A	uc003gsh.3	+	13	2421	c.2205G>A	c.(2203-2205)TCG>TCA	p.S735S	STIM2_uc003gsg.3_Silent_p.S727S|STIM2_uc010iex.2_3'UTR|STIM2_uc010iey.2_3'UTR	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	640	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				GAGGGGATTCGCCTGTAACTG	0.473000												
RELL1	768211	broad.mit.edu	37	4	37636637	37636637	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:37636637G>A	uc003gsz.2	-	5	642	c.552C>T	c.(550-552)GGC>GGT	p.G184G	RELL1_uc010ifc.2_Silent_p.G184G	NM_001085399	NP_001078868	Q8IUW5	RELL1_HUMAN	receptor expressed in lymphoid tissues like 1	184	Cytoplasmic (Potential).					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane					0						CGACAACACCGCCCACCGTAT	0.612000												
UGDH	7358	broad.mit.edu	37	4	39515753	39515753	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:39515753A>G	uc003guk.1	-	3	530	c.214T>C	c.(214-216)TCT>CCT	p.S72P	UGDH_uc011byp.1_5'UTR|UGDH_uc003gul.1_Missense_Mutation_p.S72P	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	72					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)	ATATTGGTAGAAAAAAAAAGA	0.299000												
FRYL	285527	broad.mit.edu	37	4	48578234	48578234	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:48578234G>A	uc003gyh.1	-	24	3139	c.2534C>T	c.(2533-2535)CCC>CTC	p.P845L	FRYL_uc003gyk.2_Missense_Mutation_p.P845L	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	845					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						AGCATTGATGGGGCTACTAAG	0.328000												
FRYL	285527	broad.mit.edu	37	4	48622707	48622707	+	Missense_Mutation	SNP	G	G	A	rs147277630	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:48622707G>A	uc003gyh.1	-	6	868	c.263C>T	c.(262-264)ACG>ATG	p.T88M	FRYL_uc003gyk.2_Missense_Mutation_p.T88M|FRYL_uc003gyl.1_Missense_Mutation_p.T139M|FRYL_uc003gym.1_Missense_Mutation_p.T88M	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TTCATCTTCCGTTCCATTTTG	0.423000												
PDGFRA	5156	broad.mit.edu	37	4	54249979	54249979	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:54249979G>A	uc003haa.2	+	5	454	c.268G>A	c.(268-270)GAT>AAT	p.D90N	FIP1L1_uc003gzx.3_Missense_Mutation_p.D75N|FIP1L1_uc011bzt.1_Missense_Mutation_p.D90N|FIP1L1_uc003gzy.2_Missense_Mutation_p.D90N|FIP1L1_uc011bzu.1_Missense_Mutation_p.D75N|FIP1L1_uc003gzz.2_Missense_Mutation_p.D75N|FIP1L1_uc003hab.2_Missense_Mutation_p.D78N|FIP1L1_uc003hac.2_Intron	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	tagtgacagcgatgatgatga	0.229000			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
FIP1L1	81608	broad.mit.edu	37	4	54325608	54325608	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:54325608G>A	uc003gzy.2	+	18	1963	c.1777G>A	c.(1777-1779)GCA>ACA	p.A593T	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Missense_Mutation_p.A587T|FIP1L1_uc003gzz.2_Missense_Mutation_p.A519T|FIP1L1_uc003hab.2_Missense_Mutation_p.A558T|FIP1L1_uc003hac.2_Missense_Mutation_p.A347T|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Silent_p.L177L|FIP1L1_uc003hae.2_Silent_p.L180L	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	593	Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGCTACACCTGCAGAATAGGC	0.388000			T	PDGFRA	idiopathic hypereosinophilic syndrome							
LPHN3	23284	broad.mit.edu	37	4	62599176	62599176	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:62599176G>A	uc010ihh.2	+	5	1272	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	LPHN3_uc003hcq.3_Missense_Mutation_p.V367M|LPHN3_uc010ihg.1_Missense_Mutation_p.V435M|LPHN3_uc003hcs.1_Missense_Mutation_p.V196M	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	367	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						CATTGCAGCTGTGGATTACAA	0.398000												
NPFFR2	10886	broad.mit.edu	37	4	73012837	73012837	+	Silent	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:73012837C>A	uc003hgg.2	+	4	975	c.877C>A	c.(877-879)CGA>AGA	p.R293R	NPFFR2_uc010iig.1_Silent_p.R75R|NPFFR2_uc003hgi.2_Silent_p.R194R|NPFFR2_uc003hgh.2_Silent_p.R191R|NPFFR2_uc003hgj.2_RNA	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	293	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AAAATATTACCGAGTGAGACT	0.438000												
AFM	173	broad.mit.edu	37	4	74351751	74351751	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:74351751G>A	uc003hhb.2	+	4	474	c.443G>A	c.(442-444)TGC>TAC	p.C148Y		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	148	Albumin 1.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGAGAAATGCCAGGCTTAT	0.368000												
PRDM8	56978	broad.mit.edu	37	4	81123474	81123474	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:81123474T>C	uc010ijo.2	+	8	1697	c.858T>C	c.(856-858)GGT>GGC	p.G286G	PRDM8_uc003hmb.3_Silent_p.G286G|PRDM8_uc003hmc.3_Silent_p.G286G	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	286	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCAgcagcggtagcggcagcg	0.557000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HELQ	113510	broad.mit.edu	37	4	84370022	84370022	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:84370022C>A	uc003hom.2	-	3	1284	c.1105G>T	c.(1105-1107)GCT>TCT	p.A369S	HELQ_uc010ikb.2_Missense_Mutation_p.A369S|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Missense_Mutation_p.A263S	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	369	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						AAAATCTCAGCCACGAGGGTT	0.373000								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
WDFY3	23001	broad.mit.edu	37	4	85638104	85638104	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:85638104C>A	uc003hpd.2	-	49	8228	c.7820G>T	c.(7819-7821)AGC>ATC	p.S2607I	WDFY3_uc003hpe.1_Missense_Mutation_p.S218I	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2607						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGCAAAAATGCTGCATGTTCT	0.383000												
WDFY3	23001	broad.mit.edu	37	4	85738729	85738729	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:85738729C>T	uc003hpd.2	-	13	2111	c.1703G>A	c.(1702-1704)CGA>CAA	p.R568Q	WDFY3_uc003hpf.2_Missense_Mutation_p.R568Q	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	568						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCAAATTCTCGAAAAATTCC	0.388000												
PDHA2	5161	broad.mit.edu	37	4	96761910	96761910	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:96761910C>T	uc003htr.3	+	1	672	c.609C>T	c.(607-609)GCC>GCT	p.A203A		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	203					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGCAGATAGCCGAAGCTTTCA	0.458000												
PAPSS1	9061	broad.mit.edu	37	4	108565999	108565999	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:108565999C>T	uc003hyk.2	-	10	1549	c.1465G>A	c.(1465-1467)GCC>ACC	p.A489T		NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	489	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GGGAAGATGGCCACCACTGTC	0.488000												
LEF1	51176	broad.mit.edu	37	4	109010379	109010379	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:109010379G>A	uc003hyt.1	-	4	1104	c.449C>T	c.(448-450)GCG>GTG	p.A150V	LEF1_uc011cfj.1_Missense_Mutation_p.A35V|LEF1_uc011cfk.1_Missense_Mutation_p.A82V|LEF1_uc003hyu.1_Missense_Mutation_p.A150V|LEF1_uc003hyv.1_Missense_Mutation_p.A150V|LEF1_uc010imb.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	150	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGGATGGACCGCATGGGATGG	0.493000												
PITX2	5308	broad.mit.edu	37	4	111553569	111553569	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:111553569C>T	uc003iad.2	-	3	696	c.114G>A	c.(112-114)ACG>ACA	p.T38T	PITX2_uc003iae.2_Intron|PITX2_uc010iml.2_5'UTR|PITX2_uc003iaf.2_Silent_p.T38T	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	38					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CAGGAGAGTCCGTGAACTCGA	0.652000												
PITX2	5308	broad.mit.edu	37	4	111554160	111554160	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:111554160G>A	uc003iad.2	-	2	577	c.-5C>T	c.(-7--3)AACGG>AATGG		PITX2_uc003iae.2_Translation_Start_Site|PITX2_uc010iml.2_Translation_Start_Site|PITX2_uc003iaf.2_Translation_Start_Site	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2						determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TCCATTCCCCGTTATCTGCAA	0.577000												
ANK2	287	broad.mit.edu	37	4	114251594	114251594	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:114251594C>T	uc003ibe.3	+	27	3193	c.3093C>T	c.(3091-3093)ATC>ATT	p.I1031I	ANK2_uc003ibd.3_Silent_p.I1022I|ANK2_uc003ibf.3_Silent_p.I1031I|ANK2_uc011cgc.1_Silent_p.I240I|ANK2_uc003ibg.3_Silent_p.I59I|ANK2_uc003ibc.2_Silent_p.I1007I|ANK2_uc011cgb.1_Silent_p.I1046I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTCGCCTGATCGAAGTTGGAC	0.532000												
UGT8	7368	broad.mit.edu	37	4	115544628	115544628	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:115544628G>A	uc003ibs.2	+	2	1114	c.592G>A	c.(592-594)GGT>AGT	p.G198S	UGT8_uc003ibt.2_Missense_Mutation_p.G198S|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	198					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GAAAAATACCGGTGTTTACCT	0.463000												
PRSS12	8492	broad.mit.edu	37	4	119203326	119203326	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:119203326T>C	uc003ica.1	-	13	2440	c.2393A>G	c.(2392-2394)TAT>TGT	p.Y798C		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	798	Peptidase S1.					membrane	scavenger receptor activity			skin(1)	1						CCGACCCTTATAACGTTCTTC	0.478000												
PRDM5	11107	broad.mit.edu	37	4	121738035	121738035	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:121738035C>T	uc003idn.2	-	6	945	c.695G>A	c.(694-696)CGA>CAA	p.R232Q	PRDM5_uc003ido.2_Intron|PRDM5_uc010ine.2_Intron|PRDM5_uc010inf.2_Intron	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	232					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						CTGAAAACTTCGCGAAGACTC	0.373000												
TNIP3	79931	broad.mit.edu	37	4	122075821	122075821	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:122075821C>T	uc010ing.2	-	5	573	c.377G>A	c.(376-378)CGC>CAC	p.R126H	TNIP3_uc010inh.2_Missense_Mutation_p.R126H|TNIP3_uc011cgj.1_Missense_Mutation_p.R184H|TNIP3_uc010ini.2_Missense_Mutation_p.R126H	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	126	Potential.									ovary(1)	1						TTCATTTAGGCGTTCCTTTTC	0.318000												
KIAA1109	84162	broad.mit.edu	37	4	123097031	123097031	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:123097031G>A	uc003ieh.2	+	4	365	c.320G>A	c.(319-321)CGG>CAG	p.R107Q		NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	107					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATCATTTTTCGGTGGTGGAAA	0.279000												
KIAA1109	84162	broad.mit.edu	37	4	123176343	123176343	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:123176343C>T	uc003ieh.2	+	38	6328	c.6283C>T	c.(6283-6285)CGC>TGC	p.R2095C	KIAA1109_uc003iel.1_Missense_Mutation_p.R30C|KIAA1109_uc003iek.2_Missense_Mutation_p.R714C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2095					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAAAGTTGCTCGCTTTCTCCA	0.338000												
KIAA1109	84162	broad.mit.edu	37	4	123227182	123227182	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:123227182C>G	uc003ieh.2	+	55	9868	c.9823C>G	c.(9823-9825)CCT>GCT	p.P3275A	KIAA1109_uc003iel.1_Missense_Mutation_p.P1210A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3275					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TTATGCACAGCCTGTGGCCTT	0.388000												
BBS12	166379	broad.mit.edu	37	4	123664621	123664621	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:123664621G>A	uc003ieu.2	+	2	1767	c.1574G>A	c.(1573-1575)CGT>CAT	p.R525H		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	525					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						TGTGCCTATCGTTTGTATTAT	0.403000									Bardet-Biedl_syndrome			
FAT4	79633	broad.mit.edu	37	4	126411904	126411904	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:126411904C>T	uc003ifj.3	+	17	13927	c.13927C>T	c.(13927-13929)CGC>TGC	p.R4643C	FAT4_uc011cgp.1_Missense_Mutation_p.R2884C|FAT4_uc003ifi.1_Missense_Mutation_p.R2120C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4643	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAAGCAGTTCCGCAGCCACAC	0.517000												
PCDH10	57575	broad.mit.edu	37	4	134071459	134071459	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:134071459C>T	uc003iha.2	+	1	990	c.164C>T	c.(163-165)ACG>ATG	p.T55M	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.T55M	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	55	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGTTTCAGACGGTGCCCAAC	0.517000												
SLC7A11	23657	broad.mit.edu	37	4	139140513	139140513	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:139140513G>A	uc011chb.1	-	5	933	c.653C>T	c.(652-654)ACG>ATG	p.T218M		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	218	Extracellular (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			skin(1)	1	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	AAAGTTCTGCGTTTGACCTGT	0.383000												
CLGN	1047	broad.mit.edu	37	4	141321537	141321537	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:141321537T>A	uc011chi.1	-	8	886	c.668A>T	c.(667-669)GAC>GTC	p.D223V	CLGN_uc003iii.2_Missense_Mutation_p.D223V	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	223	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					AGTCTTCCTGTCTGTAAAGAA	0.254000												
HHIP	64399	broad.mit.edu	37	4	145636548	145636548	+	Silent	SNP	C	C	T	rs141850394	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:145636548C>T	uc003ijs.1	+	10	2299	c.1644C>T	c.(1642-1644)TCC>TCT	p.S548S		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	548						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCTACTTTTCCGGTCACATCT	0.443000												
ZNF827	152485	broad.mit.edu	37	4	146697029	146697029	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:146697029C>T	uc003ikn.2	-	10	2653	c.2605G>A	c.(2605-2607)GTG>ATG	p.V869M	ZNF827_uc003ikm.2_Missense_Mutation_p.V869M|ZNF827_uc010iox.2_Missense_Mutation_p.V519M|ZNF827_uc003ikl.2_Translation_Start_Site	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	869					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					ACCAGCTTCACGGAATGGACG	0.498000												
KIAA0922	23240	broad.mit.edu	37	4	154548824	154548824	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:154548824G>A	uc003inm.3	+	31	4241	c.4189G>A	c.(4189-4191)GTT>ATT	p.V1397I	KIAA0922_uc010ipp.2_Missense_Mutation_p.V1398I|KIAA0922_uc010ipq.2_Missense_Mutation_p.V1166I	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1397	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				GCCCACAGGTGTTGAAGAAGA	0.532000												
TLR2	7097	broad.mit.edu	37	4	154625419	154625419	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:154625419T>C	uc003inq.2	+	3	1579	c.1360T>C	c.(1360-1362)TGC>CGC	p.C454R	TLR2_uc003inr.2_Missense_Mutation_p.C454R|TLR2_uc003ins.2_Missense_Mutation_p.C454R	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	454	LRR 11.|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)				TGTAACAGGCTGCATTCCCAA	0.348000												
PDGFC	56034	broad.mit.edu	37	4	157684304	157684304	+	Missense_Mutation	SNP	C	C	T	rs150603208	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:157684304C>T	uc003iph.1	-	6	1467	c.976G>A	c.(976-978)GAC>AAC	p.D326N	PDGFC_uc003ipi.1_Missense_Mutation_p.D163N|PDGFC_uc011cis.1_Missense_Mutation_p.D163N|PDGFC_uc011cir.1_Missense_Mutation_p.D170N	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	326					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AGGGCCACGTCGGTGAGTGAT	0.527000												
GLRB	2743	broad.mit.edu	37	4	158065087	158065087	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:158065087G>A	uc003ipj.2	+	8	1082	c.880G>A	c.(880-882)GCG>ACG	p.A294T		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	294					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CAACCCGGACGCGAGTGCTGC	0.488000												
GRIA2	2891	broad.mit.edu	37	4	158233934	158233934	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:158233934G>A	uc003ipm.3	+	4	1032	c.573G>A	c.(571-573)ATG>ATA	p.M191I	GRIA2_uc011cit.1_Missense_Mutation_p.M144I|GRIA2_uc003ipl.3_Missense_Mutation_p.M191I|GRIA2_uc003ipk.3_Missense_Mutation_p.M144I|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	191	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAGATGAGATGTACCGATCAC	0.403000												
GRIA2	2891	broad.mit.edu	37	4	158233975	158233975	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:158233975G>T	uc003ipm.3	+	4	1073	c.614G>T	c.(613-615)CGG>CTG	p.R205L	GRIA2_uc011cit.1_Missense_Mutation_p.R158L|GRIA2_uc003ipl.3_Missense_Mutation_p.R205L|GRIA2_uc003ipk.3_Missense_Mutation_p.R158L|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	205	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAAAAGGAACGGCGTGTAATT	0.373000												
FSTL5	56884	broad.mit.edu	37	4	162680595	162680595	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:162680595T>C	uc003iqh.2	-	6	1131	c.695A>G	c.(694-696)CAC>CGC	p.H232R	FSTL5_uc003iqi.2_Missense_Mutation_p.H231R|FSTL5_uc010iqv.2_Missense_Mutation_p.H231R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	232	2 (Potential).|EF-hand 2.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAGAGCCAGGTGCTTGTCAGC	0.343000												
TLL1	7092	broad.mit.edu	37	4	166924664	166924664	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:166924664C>T	uc003irh.1	+	6	1401	c.754C>T	c.(754-756)CAC>TAC	p.H252Y	TLL1_uc011cjn.1_Missense_Mutation_p.H252Y|TLL1_uc011cjo.1_Missense_Mutation_p.H76Y	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	252	Metalloprotease (By similarity).				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)		TTGGCATGAACACACAAGACC	0.438000												
TLL1	7092	broad.mit.edu	37	4	167020437	167020437	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:167020437G>A	uc003irh.1	+	20	3312	c.2665G>A	c.(2665-2667)GGA>AGA	p.G889R	TLL1_uc011cjn.1_Missense_Mutation_p.G912R|TLL1_uc011cjo.1_Missense_Mutation_p.G713R	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	889	CUB 5.				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)		AGAGTGTGGCGGACGATTGAA	0.418000												
DDX60	55601	broad.mit.edu	37	4	169227765	169227765	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:169227765G>A	uc003irp.2	-	5	663	c.371C>T	c.(370-372)TCG>TTG	p.S124L		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	124							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TAAGCATCTCGAAAATGTTGT	0.393000												
SH3RF1	57630	broad.mit.edu	37	4	170043340	170043340	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:170043340G>A	uc003isa.1	-	7	1592	c.1257C>T	c.(1255-1257)GCC>GCT	p.A419A	SH3RF1_uc010irc.1_Silent_p.A119A	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	419	Poly-Ala.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CAGCAGCAGCGGCGGTGGCGC	0.582000												
SH3RF1	57630	broad.mit.edu	37	4	170190147	170190147	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:170190147G>T	uc003isa.1	-	2	552	c.217C>A	c.(217-219)CTG>ATG	p.L73M		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	73						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		ATGCCATCCAGAAGTCTGACC	0.527000												
VEGFC	7424	broad.mit.edu	37	4	177713367	177713367	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:177713367C>T	uc003ius.1	-	1	529	c.99G>A	c.(97-99)GAG>GAA	p.E33E		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	33					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CGAGTCCGGACTCGAAggcgg	0.582000												
ODZ3	55714	broad.mit.edu	37	4	183267888	183267888	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:183267888C>T	uc003ivd.1	+	2	354	c.317C>T	c.(316-318)CCT>CTT	p.P106L	ODZ3_uc010irv.1_Missense_Mutation_p.P106L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	106	Cytoplasmic (Potential).|Teneurin N-terminal.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATGGGGCTCCCTCACAGAGGT	0.498000												
C4orf41	60684	broad.mit.edu	37	4	184614172	184614172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:184614172G>A	uc003ivx.2	+	20	2285	c.2109G>A	c.(2107-2109)TGG>TGA	p.W703*	C4orf41_uc003ivw.2_Nonsense_Mutation_p.W703*|C4orf41_uc010isc.2_Nonsense_Mutation_p.W47*|C4orf41_uc003ivy.2_Nonsense_Mutation_p.W309*	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	703											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		TTTTAAATTGGCAGGGAGGAG	0.453000												
IRF2	3660	broad.mit.edu	37	4	185340636	185340636	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:185340636C>A	uc003iwf.3	-	3	374	c.174G>T	c.(172-174)TGG>TGT	p.W58C		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	58	IRF tryptophan pentad repeat.			W -> R (in Ref. 1; CAA34073).	blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.W58R(1)		ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TATGGATTGCCCAGTTTCTAA	0.408000												
ZDHHC11	79844	broad.mit.edu	37	5	819657	819657	+	Missense_Mutation	SNP	C	C	T	rs148805710	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:819657C>T	uc011cma.1	-	10	1513	c.1129G>A	c.(1129-1131)GGG>AGG	p.G377R	ZDHHC11_uc010itc.2_RNA|ZDHHC11_uc003jbj.2_RNA	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	377						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ATCGAGCCCCCGTCTGGGTGT	0.582000												
SLC12A7	10723	broad.mit.edu	37	5	1083980	1083980	+	Missense_Mutation	SNP	C	C	T	rs140054338		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:1083980C>T	uc003jbu.2	-	8	1075	c.1009G>A	c.(1009-1011)GCG>ACG	p.A337T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	337					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCCAGAGCGCGGAGGTGGCT	0.662000												
IRX4	50805	broad.mit.edu	37	5	1879904	1879904	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:1879904C>T	uc003jcz.2	-	4	569	c.450G>A	c.(448-450)ACG>ACA	p.T150T	IRX4_uc011cmf.1_Silent_p.T11T	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	150	Homeobox; TALE-type.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		TGGTCTCGCGCGTGGCGTTCT	0.642000												
PAPD7	11044	broad.mit.edu	37	5	6754978	6754978	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:6754978C>T	uc003jdx.1	+	13	1678	c.1549C>T	c.(1549-1551)CAC>TAC	p.H517Y	PAPD7_uc011cmn.1_Missense_Mutation_p.H507Y|PAPD7_uc010itl.1_Missense_Mutation_p.H337Y	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	517					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						CAGGGGACACCACCAGTATAA	0.622000												
CTNND2	1501	broad.mit.edu	37	5	11732318	11732318	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:11732318A>G	uc003jfa.1	-	2	249	c.104T>C	c.(103-105)TTA>TCA	p.L35S	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	35					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						GGAGGTGTTTAAGCCGGGGCT	0.507000												
TRIO	7204	broad.mit.edu	37	5	14363855	14363855	+	Silent	SNP	C	C	T	rs141315662		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:14363855C>T	uc003jff.2	+	14	2412	c.2406C>T	c.(2404-2406)CTC>CTT	p.L802L	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.L753L|TRIO_uc003jfh.1_Silent_p.L451L	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	802					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TCTCAGACCTCGAGTCTTGGA	0.433000												
C5orf22	55322	broad.mit.edu	37	5	31534451	31534451	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:31534451G>A	uc003jhj.3	+	2	281	c.154G>A	c.(154-156)GAC>AAC	p.D52N	RNASEN_uc003jhh.2_5'Flank|RNASEN_uc003jhg.2_5'Flank|RNASEN_uc003jhi.2_5'Flank|C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	52										ovary(2)	2						TTTACATTTCGACTCACATCC	0.398000												
PDZD2	23037	broad.mit.edu	37	5	32090175	32090175	+	Silent	SNP	G	G	A	rs138558075		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:32090175G>A	uc003jhl.2	+	20	7009	c.6621G>A	c.(6619-6621)TCG>TCA	p.S2207S	PDZD2_uc003jhm.2_Silent_p.S2207S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2207					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GGGGCCCCTCGGGGGAGGACC	0.582000												
CAPSL	133690	broad.mit.edu	37	5	35921207	35921207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:35921207G>A	uc003jjt.1	-	2	111	c.16C>T	c.(16-18)CGC>TGC	p.R6C	CAPSL_uc003jju.1_Missense_Mutation_p.R6C	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	6						cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CGGTCATGGCGCGCTGTCCCT	0.612000												
NIPBL	25836	broad.mit.edu	37	5	36958222	36958222	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:36958222C>A	uc003jkl.3	+	4	746	c.247C>A	c.(247-249)CTT>ATT	p.L83I	NIPBL_uc003jkk.3_Missense_Mutation_p.L83I	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	83					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)			GAAAGATAACCTTGGCAGTGA	0.393000												
ITGA1	3672	broad.mit.edu	37	5	52227934	52227934	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:52227934G>A	uc003jou.2	+	22	2881	c.2829G>A	c.(2827-2829)CCG>CCA	p.P943P	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.P474P	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	943	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTCTATCCCGGTAAAATATG	0.318000												
MAST4	375449	broad.mit.edu	37	5	66459966	66459966	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:66459966C>T	uc003jut.1	+	28	4460	c.4392C>T	c.(4390-4392)CTC>CTT	p.L1464L	MAST4_uc003juw.2_Silent_p.L1392L|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1656						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCACTCCCTCGACAGGGGCA	0.652000												
CCNB1	891	broad.mit.edu	37	5	68473458	68473458	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:68473458A>G	uc003jvm.2	+	9	1479	c.1302A>G	c.(1300-1302)TAA>TAG	p.*434*	CCNB1_uc010ixb.2_Silent_p.*397*	NM_031966	NP_114172	P14635	CCNB1_HUMAN	cyclin B1	434					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole					0		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CAAAGGTGTAACTTGTAAACT	0.383000												
HMGCR	3156	broad.mit.edu	37	5	74647031	74647031	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:74647031A>G	uc003kdp.2	+	10	1236	c.1080A>G	c.(1078-1080)ACA>ACG	p.T360T	HMGCR_uc011cst.1_Silent_p.T380T|HMGCR_uc003kdq.2_Silent_p.T360T	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	360	Linker.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTGTAGTGACACAAAAGAAAG	0.408000												
CMYA5	202333	broad.mit.edu	37	5	79033262	79033262	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:79033262T>C	uc003kgc.2	+	2	8746	c.8674T>C	c.(8674-8676)TAT>CAT	p.Y2892H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2892						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAGCAACTATGCTCAATT	0.398000												
VCAN	1462	broad.mit.edu	37	5	82818051	82818051	+	Missense_Mutation	SNP	C	C	T	rs149651541		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:82818051C>T	uc003kii.3	+	7	4282	c.3926C>T	c.(3925-3927)ACG>ATG	p.T1309M	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T1309M|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1309	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCGCTTTCTACGCCACAGCCC	0.448000												
NR2F1	7025	broad.mit.edu	37	5	92923980	92923980	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:92923980C>T	uc003kkj.2	+	2	2508	c.821C>T	c.(820-822)GCG>GTG	p.A274V		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	274					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGCACGTGGCGCCGTTGCTG	0.672000												
FAM172A	83989	broad.mit.edu	37	5	93217343	93217343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:93217343C>A	uc010jbd.2	-	7	826	c.619G>T	c.(619-621)GAA>TAA	p.E207*	FAM172A_uc011cuf.1_Nonsense_Mutation_p.E161*|FAM172A_uc011cug.1_Nonsense_Mutation_p.E97*|FAM172A_uc011cuh.1_Nonsense_Mutation_p.E60*|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Intron|FAM172A_uc003kkm.3_Nonsense_Mutation_p.E207*	NM_032042	NP_114431	Q8WUF8	F172A_HUMAN	hypothetical protein LOC83989 isoform 1	207						endoplasmic reticulum|extracellular region					0						TTCGGCTTTTCTACTTCAATA	0.323000												
RGMB	285704	broad.mit.edu	37	5	98115503	98115503	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:98115503G>T	uc003knc.2	+	4	881	c.479G>T	c.(478-480)AGG>ATG	p.R160M	RGMB_uc003knb.2_Missense_Mutation_p.R160M	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	119					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)		ATGAGCCAGAGGAATTGTTCC	0.552000												
ST8SIA4	7903	broad.mit.edu	37	5	100147676	100147676	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:100147676C>T	uc003knk.2	-	5	1283	c.955G>A	c.(955-957)GAC>AAC	p.D319N		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	319	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TATTTTAAGTCATCATAATAA	0.358000												
TSLP	85480	broad.mit.edu	37	5	110407586	110407586	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:110407586C>T	uc003kpb.2	+	1	197	c.-2C>T	c.(-4-0)CACGT>CATGT		TSLP_uc003kpa.2_Intron|TSLP_uc010jbt.1_5'Flank	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin isoform 1							extracellular space	cytokine activity				0		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGGTGTCCACGTATGTTCCC	0.458000												
SEMA6A	57556	broad.mit.edu	37	5	115783233	115783233	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:115783233G>A	uc010jck.2	-	19	2878	c.2169C>T	c.(2167-2169)CTC>CTT	p.L723L	SEMA6A_uc003krx.3_Silent_p.L740L|SEMA6A_uc011cwe.1_Silent_p.L102L|SEMA6A_uc003krv.3_Silent_p.L150L|SEMA6A_uc003krw.3_Silent_p.L200L|SEMA6A_uc010jcj.2_Silent_p.L267L	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	723	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGAGTGGCGTGAGGATGGCCT	0.627000												
KDM3B	51780	broad.mit.edu	37	5	137729043	137729043	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:137729043G>A	uc003lcy.1	+	9	3013	c.2813G>A	c.(2812-2814)CGT>CAT	p.R938H	KDM3B_uc010jew.1_Missense_Mutation_p.R594H|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	938					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						GTAGCCTGCCGTTTCTTTCAC	0.458000												
HSPA9	3313	broad.mit.edu	37	5	137893663	137893663	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:137893663G>A	uc003ldf.2	-	13	1636	c.1528C>T	c.(1528-1530)CCA>TCA	p.P510S	HSPA9_uc003lde.2_5'Flank|HSPA9_uc011cyw.1_Intron	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	510					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CGAGGGGCTGGTGGAATTCCA	0.393000												
CXXC5	51523	broad.mit.edu	37	5	139061006	139061006	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:139061006A>G	uc010jfg.1	+	2	1188	c.898A>G	c.(898-900)AAA>GAA	p.K300E	CXXC5_uc003let.2_Missense_Mutation_p.K300E	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	CXXC finger 5	300					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGAACTCAAAAAGAAGCC	0.562000												
PSD2	84249	broad.mit.edu	37	5	139189047	139189047	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:139189047T>C	uc003leu.1	+	2	227	c.22T>C	c.(22-24)TCT>CCT	p.S8P		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	8					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTCTTATCTGCAGTGCC	0.627000												
HARS	3035	broad.mit.edu	37	5	140059380	140059380	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140059380T>C	uc003lgv.2	-	4	471	c.389A>G	c.(388-390)GAC>GGC	p.D130G	HARS_uc003lgu.2_Missense_Mutation_p.D61G|HARS_uc011czm.1_Missense_Mutation_p.D90G|HARS_uc003lgw.2_Missense_Mutation_p.D130G|HARS_uc011czn.1_Missense_Mutation_p.D90G|HARS_uc010jfu.2_Missense_Mutation_p.D130G|HARS_uc011czo.1_Intron|HARS_uc011czp.1_Intron|HARS_uc011czq.1_Intron	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	130					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TACAGTGAGGTCATAGCGAAG	0.468000												
PCDHA7	56141	broad.mit.edu	37	5	140216233	140216233	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140216233G>A	uc003lhq.2	+	1	2265	c.2265G>A	c.(2263-2265)CGG>CGA	p.R755R	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_uc011dac.1_Silent_p.R755R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	755	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAGGCGGCAGAGGGTGT	0.612000												
PCDHA13	56136	broad.mit.edu	37	5	140262138	140262138	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140262138G>A	uc003lif.2	+	1	285	c.285G>A	c.(283-285)CTG>CTA	p.L95L	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.L95L|PCDHA13_uc003lid.2_Silent_p.L95L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	95	Cadherin 1.|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)			GCGAGGAGCTGTGTGGGCGGA	0.567000												
PCDHB4	56131	broad.mit.edu	37	5	140503140	140503140	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140503140C>T	uc003lip.1	+	1	1560	c.1560C>T	c.(1558-1560)TAC>TAT	p.Y520Y		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	520	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGACTACGAGGCCCTGC	0.692000												
PCDHB9	56127	broad.mit.edu	37	5	140568769	140568769	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140568769C>T	uc003liw.1	+	3	1878	c.1878C>T	c.(1876-1878)ACC>ACT	p.T626T		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	626	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGCGCACCGCCAGGCTGC	0.692000												
PCDHGA2	56113	broad.mit.edu	37	5	140719316	140719316	+	Missense_Mutation	SNP	C	C	T	rs145851665		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140719316C>T	uc003ljk.1	+	1	963	c.778C>T	c.(778-780)CGG>TGG	p.R260W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.R260W	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	260	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGCACCCGGATACTCAC	0.532000												
PCDHGA2	56113	broad.mit.edu	37	5	140720770	140720770	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140720770C>T	uc003ljk.1	+	1	2417	c.2232C>T	c.(2230-2232)GAC>GAT	p.D744D	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.D744D|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	744	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGTGGACGGGGTTCGGG	0.632000												
PCDHGA4	56111	broad.mit.edu	37	5	140735546	140735546	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140735546G>A	uc003ljq.1	+	1	779	c.779G>A	c.(778-780)CGG>CAG	p.R260Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.R260Q	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	260	Cadherin 3.|Extracellular (Potential).				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)			GTAGGCACTCGGCTACTCACC	0.463000												
PCDHGB3	56102	broad.mit.edu	37	5	140751583	140751583	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140751583C>T	uc003ljw.1	+	1	1622	c.1622C>T	c.(1621-1623)ACG>ATG	p.T541M	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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.T541M|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	541	Extracellular (Potential).|Cadherin 5.				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)			GGCTCGCCTACGCTCAGCGCC	0.692000												
PCDHGA6	56109	broad.mit.edu	37	5	140754301	140754301	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140754301C>T	uc003ljy.1	+	1	651	c.651C>T	c.(649-651)GGC>GGT	p.G217G	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_Silent_p.G217G	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	217	Extracellular (Potential).|Cadherin 2.				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)			CCATGGATGGCGGCGACCCTG	0.572000												
PCDHGC5	56097	broad.mit.edu	37	5	140869617	140869617	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140869617C>T	uc003lla.1	+	1	810	c.810C>T	c.(808-810)GAC>GAT	p.D270D	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_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Silent_p.D270D	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	270	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATCCAGACGAGGGCACCA	0.532000												
PCDH12	51294	broad.mit.edu	37	5	141335044	141335044	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:141335044G>A	uc003llx.2	-	1	3584	c.2373C>T	c.(2371-2373)GTC>GTT	p.V791V		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	791	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACTGCCCGACTTCACAAG	0.622000												
PPARGC1B	133522	broad.mit.edu	37	5	149210433	149210433	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:149210433G>A	uc003lrc.2	+	4	611	c.569G>A	c.(568-570)CGG>CAG	p.R190Q	PPARGC1B_uc003lrb.1_Missense_Mutation_p.R190Q|PPARGC1B_uc003lrd.2_Intron|PPARGC1B_uc003lrf.2_Missense_Mutation_p.R169Q|PPARGC1B_uc003lre.1_Missense_Mutation_p.R169Q	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	190					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAAAGTCAACGGCCTTGTGTT	0.557000												
GRIA1	2890	broad.mit.edu	37	5	153026617	153026617	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:153026617C>T	uc003lva.3	+	3	715	c.350C>T	c.(349-351)ACA>ATA	p.T117I	GRIA1_uc003luy.3_Missense_Mutation_p.T117I|GRIA1_uc003luz.3_Missense_Mutation_p.T22I|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Missense_Mutation_p.T48I|GRIA1_uc011dcy.1_Missense_Mutation_p.T127I|GRIA1_uc011dcz.1_Missense_Mutation_p.T127I|GRIA1_uc010jia.1_Missense_Mutation_p.T97I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	117	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCCGTTGATACATCCAATCAG	0.478000												
ITK	3702	broad.mit.edu	37	5	156672939	156672939	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:156672939G>A	uc003lwo.1	+	15	1645	c.1563G>A	c.(1561-1563)CCG>CCA	p.P521P		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	521	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAAATTCCCGGTGAAGTGGG	0.557000			T	SYK	peripheral T-cell lymphoma							
ITK	3702	broad.mit.edu	37	5	156673004	156673004	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:156673004C>T	uc003lwo.1	+	15	1710	c.1628C>T	c.(1627-1629)TCA>TTA	p.S543L		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	543	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGTGTGGTCATTTGGTGAG	0.532000			T	SYK	peripheral T-cell lymphoma							
CYFIP2	26999	broad.mit.edu	37	5	156816213	156816213	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:156816213G>A	uc003lwq.2	+	31	3362	c.3224G>A	c.(3223-3225)CGC>CAC	p.R1075H	CYFIP2_uc011ddn.1_Missense_Mutation_p.R1049H|CYFIP2_uc011ddo.1_Missense_Mutation_p.R879H|CYFIP2_uc003lwr.2_Missense_Mutation_p.R1075H|CYFIP2_uc003lws.2_Missense_Mutation_p.R1075H|CYFIP2_uc003lwt.2_Missense_Mutation_p.R978H|CYFIP2_uc011ddp.1_Missense_Mutation_p.R809H|CYFIP2_uc003lwv.2_Missense_Mutation_p.R30H	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1100					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCATTGCTCGCGAGGGTGAC	0.577000												
EBF1	1879	broad.mit.edu	37	5	158267047	158267047	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:158267047C>T	uc010jip.2	-	7	928	c.626G>A	c.(625-627)CGG>CAG	p.R209Q	EBF1_uc011ddw.1_Missense_Mutation_p.R76Q|EBF1_uc011ddx.1_Missense_Mutation_p.R209Q|EBF1_uc003lxl.3_Missense_Mutation_p.R186Q	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	209					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGAATCTCCGCATGTCACG	0.388000			T	HMGA2	lipoma							
GABRB2	2561	broad.mit.edu	37	5	160838047	160838047	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:160838047C>T	uc003lys.1	-	6	693	c.475G>A	c.(475-477)GCC>ACC	p.A159T	GABRB2_uc011deh.1_5'UTR|GABRB2_uc003lyr.1_Missense_Mutation_p.A159T|GABRB2_uc003lyt.1_Missense_Mutation_p.A159T|GABRB2_uc010jiu.1_Missense_Mutation_p.A96T	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	159	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCATGCAGGCAGCTGTGGTT	0.433000												
LCP2	3937	broad.mit.edu	37	5	169714973	169714973	+	Splice_Site	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:169714973C>T	uc003man.1	-	3	395	c.188_splice	c.e3+1	p.P63_splice	LCP2_uc011det.1_Splice_Site	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2						immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGAGTACTTACGGCACCCGGA	0.522000												
STC2	8614	broad.mit.edu	37	5	172744894	172744894	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:172744894C>T	uc003mco.1	-	4	2175	c.865G>A	c.(865-867)GAG>AAG	p.E289K	STC2_uc003mcn.1_Missense_Mutation_p.E204K	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	289					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTCCCACTCGCTGCTTCCG	0.577000												
HK3	3101	broad.mit.edu	37	5	176309124	176309124	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:176309124G>A	uc003mfa.2	-	16	2150	c.2058C>T	c.(2056-2058)ACC>ACT	p.T686T	HK3_uc003mez.2_Silent_p.T242T	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	686	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATTGGTGCCGGTTCCTGCAG	0.597000												
RGS14	10636	broad.mit.edu	37	5	176795177	176795177	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:176795177C>T	uc003mgf.2	+	8	941	c.759C>T	c.(757-759)AAC>AAT	p.N253N	RGS14_uc003mgg.1_Silent_p.N100N|RGS14_uc003mgh.2_Silent_p.N100N|RGS14_uc003mgi.2_Silent_p.N23N	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	253					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)			GGACTGCAAACGCCGCCTTGC	0.647000												
SLC34A1	6569	broad.mit.edu	37	5	176823997	176823997	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:176823997T>C	uc003mgk.3	+	12	1439	c.1338T>C	c.(1336-1338)GGT>GGC	p.G446G		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	solute carrier family 34 (sodium phosphate),	446	Extracellular (Potential).				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(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)			TCACACTGGGTTCCAACATCG	0.647000												
NHP2	55651	broad.mit.edu	37	5	177580535	177580535	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:177580535C>T	uc003mir.2	-	2	330	c.187G>A	c.(187-189)GGG>AGG	p.G63R	NHP2_uc003mis.2_Missense_Mutation_p.G63R	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	nucleolar protein family A, member 2 isoform a	63					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding				0						TCTTTCACCCCGCGCCGAATC	0.542000												
ZNF354B	117608	broad.mit.edu	37	5	178311021	178311021	+	Missense_Mutation	SNP	G	G	A	rs115229877	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:178311021G>A	uc003mjl.2	+	5	1794	c.1568G>A	c.(1567-1569)CGA>CAA	p.R523Q	ZNF354B_uc003mjm.2_Missense_Mutation_p.R523Q	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	523	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACCATATCGATGTTTAGAA	0.383000												
MGAT1	4245	broad.mit.edu	37	5	180218922	180218922	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:180218922C>T	uc003mmg.3	-	2	1545	c.1050G>A	c.(1048-1050)CAG>CAA	p.Q350Q	MGAT1_uc010jlf.2_Silent_p.Q350Q|MGAT1_uc010jlg.2_Silent_p.Q350Q|MGAT1_uc003mmh.3_Silent_p.Q350Q|MGAT1_uc010jlh.2_Silent_p.Q350Q|MGAT1_uc003mmi.3_Silent_p.Q350Q	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	350	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCTCCCGCTGCAGGTAAG	0.587000												
SLC22A23	63027	broad.mit.edu	37	6	3273381	3273381	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:3273381C>T	uc003mvm.3	-	10	1969	c.1969G>A	c.(1969-1971)GAG>AAG	p.E657K	uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Missense_Mutation_p.E376K|SLC22A23_uc003mvo.3_Missense_Mutation_p.E376K|SLC22A23_uc003mvp.1_RNA	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	657					ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TCCTTGAGCTCGGCGTTGGTG	0.657000												
RREB1	6239	broad.mit.edu	37	6	7231875	7231875	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:7231875C>T	uc003mxc.2	+	10	3933	c.3543C>T	c.(3541-3543)ATC>ATT	p.I1181I	RREB1_uc003mxb.2_Silent_p.I1181I|RREB1_uc010jnx.2_Silent_p.I1181I	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1181					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)				TTGCCAGCATCGAGAAGATGC	0.642000												
DSP	1832	broad.mit.edu	37	6	7583008	7583008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:7583008G>A	uc003mxp.1	+	24	5792	c.5513G>A	c.(5512-5514)CGT>CAT	p.R1838H	DSP_uc003mxq.1_Missense_Mutation_p.R1239H	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1838	Central fibrous rod domain.|Potential.				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)		GAGCTGAATCGTGCAAAATCA	0.478000												
NEDD9	4739	broad.mit.edu	37	6	11190803	11190803	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:11190803G>A	uc003mzv.2	-	5	1466	c.1299C>T	c.(1297-1299)ACC>ACT	p.T433T	NEDD9_uc010joz.2_Silent_p.T433T|NEDD9_uc003mzw.3_Silent_p.T287T	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	433					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			ACCGCCAGTCGGTAGTGACCA	0.517000												
GFOD1	54438	broad.mit.edu	37	6	13365237	13365237	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:13365237C>T	uc003nat.1	-	2	1576	c.911G>A	c.(910-912)CGC>CAC	p.R304H	GFOD1_uc003nas.1_Missense_Mutation_p.R201H	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	304						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)			GATGGTGCCGCGCAGGTAGGG	0.697000												
ATXN1	6310	broad.mit.edu	37	6	16306662	16306662	+	Silent	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:16306662C>A	uc003nbt.2	-	9	3317	c.2346G>T	c.(2344-2346)CTG>CTT	p.L782L	ATXN1_uc010jpi.2_Silent_p.L782L|ATXN1_uc010jpj.1_RNA	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	782	Interaction with USP7.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CTGACTTCTCCAGTTTGCGGC	0.527000												
CAP2	10486	broad.mit.edu	37	6	17507411	17507411	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:17507411C>T	uc003ncb.2	+	5	555	c.312C>T	c.(310-312)GCC>GCT	p.A104A	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Silent_p.A78A|CAP2_uc011djb.1_Silent_p.A104A|CAP2_uc011djc.1_Intron|CAP2_uc011djd.1_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	104					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ATGACGTGGCCGCACTTCTGA	0.473000												
NHLRC1	378884	broad.mit.edu	37	6	18122675	18122675	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:18122675C>T	uc003ncl.1	-	1	177	c.163G>A	c.(163-165)GTG>ATG	p.V55M		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	55	RING-type.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AGGGCGGCCACGCAGGCCAGG	0.706000												
BTN3A3	10384	broad.mit.edu	37	6	26448537	26448537	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:26448537G>A	uc003nhz.2	+	6	957	c.777G>A	c.(775-777)TCG>TCA	p.S259S	BTN3A3_uc003nia.2_Silent_p.S217S|BTN3A3_uc011dkn.1_Silent_p.S217S	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	259	Helical; (Potential).					integral to membrane					0						TGCCTATCTCGTTGCTGCTTC	0.562000												
HIST1H2AG	8969	broad.mit.edu	37	6	27101205	27101205	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:27101205A>C	uc003niw.2	+	1	389	c.355A>C	c.(355-357)AAA>CAA	p.K119Q	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	119					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						GCTACTGCCCAAAAAGACTGA	0.537000												
ZNF165	7718	broad.mit.edu	37	6	28056479	28056479	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:28056479C>T	uc003nkg.2	+	5	1773	c.689C>T	c.(688-690)GCA>GTA	p.A230V	ZNF165_uc003nkh.2_Missense_Mutation_p.A230V|ZNF165_uc003nki.3_Missense_Mutation_p.A230V|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	230					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGTAAGTCTGCAGGCAGGGTA	0.403000												
GABBR1	2550	broad.mit.edu	37	6	29591092	29591092	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:29591092A>G	uc003nmt.3	-	8	1289	c.953T>C	c.(952-954)GTC>GCC	p.V318A	GABBR1_uc003nmp.3_Missense_Mutation_p.V201A|GABBR1_uc003nms.3_Missense_Mutation_p.V201A|GABBR1_uc003nmu.3_Missense_Mutation_p.V256A|GABBR1_uc011dlr.1_Missense_Mutation_p.V141A|GABBR1_uc011dls.1_Missense_Mutation_p.V318A	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	318	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	CGAAGTGAAGACCTCAGTGGT	0.532000												
HLA-F	3134	broad.mit.edu	37	6	29694737	29694737	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:29694737T>C	uc003nno.3	+	7	1238	c.1114T>C	c.(1114-1116)TAT>CAT	p.Y372H	HLA-F_uc011dlx.1_Missense_Mutation_p.Y372H|HLA-F_uc011dly.1_RNA|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	Error:Variant_position_missing_in_P30511_after_alignment					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						CTTCCAAGGATATTTGGGCTG	0.493000												
TRIM39	56658	broad.mit.edu	37	6	30303703	30303703	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:30303703C>T	uc010jrz.2	+	5	1043	c.731C>T	c.(730-732)GCT>GTT	p.A244V	TRIM39_uc003npz.2_Missense_Mutation_p.A244V|TRIM39_uc003nqb.2_Missense_Mutation_p.A244V|TRIM39_uc003nqc.2_Missense_Mutation_p.A244V|TRIM39_uc010jsa.1_Missense_Mutation_p.A244V	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	244	Potential.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						GCCCACTTGGCTGCCGAGGTG	0.572000												
ABCF1	23	broad.mit.edu	37	6	30554267	30554267	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:30554267C>A	uc003nql.2	+	19	1997	c.1902C>A	c.(1900-1902)TAC>TAA	p.Y634*	ABCF1_uc003nqm.2_Nonsense_Mutation_p.Y596*|ABCF1_uc010jsb.2_Intron	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	634	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						CATTCGGCTACCAGGGACAGA	0.493000												
PPP1R10	5514	broad.mit.edu	37	6	30574379	30574379	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:30574379C>T	uc003nqn.1	-	8	1052	c.500G>A	c.(499-501)CGA>CAA	p.R167Q	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	167	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						AAGGGTAGTTCGACTTTTTCC	0.463000												
AIF1	199	broad.mit.edu	37	6	31584597	31584597	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:31584597C>A	uc003nuy.2	+	6	438	c.364C>A	c.(364-366)CTG>ATG	p.L122M	AIF1_uc010jsy.2_3'UTR|AIF1_uc003nva.2_Missense_Mutation_p.L68M	NM_001623	NP_001614	P55008	AIF1_HUMAN	allograft inflammatory factor 1 isoform 3	122					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			ovary(1)	1						AACCAGGATCCTGATGTATGA	0.498000												
DDAH2	23564	broad.mit.edu	37	6	31696699	31696699	+	Silent	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:31696699C>A	uc003nwp.2	-	1	871	c.240G>T	c.(238-240)GTG>GTT	p.V80V	DDAH2_uc003nwq.2_Silent_p.V80V	NM_013974	NP_039268	O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	80					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding				0					L-Citrulline(DB00155)	CCCCTTGGATCACGGCCGTGT	0.652000												
SKIV2L	6499	broad.mit.edu	37	6	31931880	31931880	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:31931880G>A	uc003nyn.1	+	16	2227	c.1838G>A	c.(1837-1839)GGC>GAC	p.G613D	SKIV2L_uc011dou.1_Missense_Mutation_p.G455D|SKIV2L_uc011dov.1_Missense_Mutation_p.G420D	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	613	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						CGCCTCCGTGGCTCTGACCGC	0.542000												
CYP21A2	1589	broad.mit.edu	37	6	32008351	32008351	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:32008351C>T	uc003nze.1	+	8	1226	c.1108C>T	c.(1108-1110)CGG>TGG	p.R370W	CYP21A2_uc003nzf.1_Missense_Mutation_p.R340W	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	369			R -> W (in AH3).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						CCGCACCACACGGCCCAGCAG	0.667000												
PRRT1	80863	broad.mit.edu	37	6	32117088	32117088	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:32117088C>T	uc003nzt.2	-	4	948	c.832G>A	c.(832-834)GTG>ATG	p.V278M	PRRT1_uc003nzs.2_Missense_Mutation_p.V319M|PRRT1_uc003nzu.2_Missense_Mutation_p.R170H	NM_030651	NP_085154	Q99946	PRRT1_HUMAN	NG5 protein	278	Helical; (Potential).				response to biotic stimulus	integral to membrane				breast(1)	1						GCGATGCCCACGGCCAGGGAG	0.637000												
ITPR3	3710	broad.mit.edu	37	6	33658886	33658886	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:33658886G>T	uc011drk.1	+	52	7444	c.7225G>T	c.(7225-7227)GCC>TCC	p.A2409S	ITPR3_uc003oey.2_Missense_Mutation_p.A496S	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2409	Extracellular (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						CCACTCCACAGGTCTTGGAGG	0.582000												
PPARD	5467	broad.mit.edu	37	6	35392119	35392119	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:35392119A>T	uc003okm.2	+	7	950	c.641A>T	c.(640-642)CAC>CTC	p.H214L	PPARD_uc003okl.2_Missense_Mutation_p.H214L|PPARD_uc003okn.2_Missense_Mutation_p.H214L|PPARD_uc011dtb.1_Missense_Mutation_p.H175L|PPARD_uc011dtc.1_Missense_Mutation_p.H116L	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	214					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)	TTTGTGATCCACGACATCGAG	0.582000												
BRPF3	27154	broad.mit.edu	37	6	36193095	36193095	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:36193095A>T	uc003olv.3	+	11	3457	c.3233A>T	c.(3232-3234)GAG>GTG	p.E1078V	BRPF3_uc010jwb.2_Missense_Mutation_p.E808V|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_Intron|BRPF3_uc011dtk.1_Missense_Mutation_p.E744V|BRPF3_uc010jwd.2_5'UTR	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1078	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GAGCCCTTGGAGCTGGTGTGG	0.657000												
MDGA1	266727	broad.mit.edu	37	6	37619886	37619886	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:37619886G>T	uc003onu.1	-	7	2392	c.1213C>A	c.(1213-1215)CTG>ATG	p.L405M	MDGA1_uc003onw.3_RNA	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	405	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CTGAAGTGCAGGTCAATGAGC	0.597000												
FOXP4	116113	broad.mit.edu	37	6	41562617	41562617	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:41562617C>T	uc003oql.2	+	14	2004	c.1546C>T	c.(1546-1548)CGC>TGC	p.R516C	FOXP4_uc003oqm.2_Missense_Mutation_p.R514C|FOXP4_uc003oqn.2_Missense_Mutation_p.R503C	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	516	Fork-head.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					GAACGCCGTGCGCCACAACCT	0.607000											OREG0004067	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
PRICKLE4	29964	broad.mit.edu	37	6	41751963	41751963	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:41751963C>T	uc011duf.1	+	4	475	c.227C>T	c.(226-228)CCG>CTG	p.P76L	PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	over-expressed breast tumor protein	36	PET.					nucleus	zinc ion binding				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAACTCCCTCCGCAGGACATT	0.488000												
CUL9	23113	broad.mit.edu	37	6	43163940	43163940	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:43163940C>T	uc003ouk.2	+	10	2597	c.2522C>T	c.(2521-2523)CCG>CTG	p.P841L	CUL9_uc003oul.2_Missense_Mutation_p.P841L|CUL9_uc010jyk.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	841					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GCCACACGCCCGGGCTCTGAG	0.552000												
TTBK1	84630	broad.mit.edu	37	6	43230733	43230733	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:43230733T>C	uc003ouq.1	+	13	1910	c.1631T>C	c.(1630-1632)GTC>GCC	p.V544A	TTBK1_uc011dvg.1_Missense_Mutation_p.V67A	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	544						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AAAGAGTGGGTCATCATCGAC	0.642000												
SLC22A7	10864	broad.mit.edu	37	6	43270090	43270090	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:43270090C>T	uc003out.2	+	8	1313	c.1214C>T	c.(1213-1215)ACG>ATG	p.T405M	SLC22A7_uc010jyl.1_Missense_Mutation_p.T406M|SLC22A7_uc003ous.2_Missense_Mutation_p.T403M	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	405	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CGCCGCCTCACGCAAGCTGGG	0.637000												
TFAP2B	7021	broad.mit.edu	37	6	50810964	50810964	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:50810964C>T	uc003pag.2	+	7	1408	c.1242C>T	c.(1240-1242)CTC>CTT	p.L414L		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	414				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					GCGCCGCGCTCACGGCCCTGC	0.637000												
DST	667	broad.mit.edu	37	6	56505005	56505005	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:56505005A>C	uc003pdf.2	-	17	2355	c.2327T>G	c.(2326-2328)TTA>TGA	p.L776*	DST_uc003pcz.3_Nonsense_Mutation_p.L598*|DST_uc011dxj.1_Nonsense_Mutation_p.L627*|DST_uc011dxk.1_Nonsense_Mutation_p.L638*|DST_uc011dxl.1_Nonsense_Mutation_p.L627*|DST_uc003pcy.3_Nonsense_Mutation_p.L272*|DST_uc003pdb.2_Nonsense_Mutation_p.L272*|DST_uc003pdc.3_Nonsense_Mutation_p.L272*|DST_uc003pdd.3_Nonsense_Mutation_p.L272*|DST_uc003pde.2_Nonsense_Mutation_p.L714*	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	598					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTTCTGTTAAATTTTGATC	0.348000												
EYS	346007	broad.mit.edu	37	6	66054021	66054021	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:66054021C>T	uc011dxu.1	-	10	2047	c.1509G>A	c.(1507-1509)CTG>CTA	p.L503L	EYS_uc003peq.2_Silent_p.L503L|EYS_uc003per.1_Silent_p.L503L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	503					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						AGTTTGCAGCCAGAAAGAAAT	0.353000												
CD109	135228	broad.mit.edu	37	6	74497026	74497026	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:74497026G>T	uc003php.2	+	21	2832	c.2407G>T	c.(2407-2409)GGC>TGC	p.G803C	CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.G803C|CD109_uc010kba.2_Missense_Mutation_p.G726C	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	803				G -> S (in Ref. 2; AAN78483).		anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AAATGCCACAGGCCACCAGCA	0.398000												
C6orf168	84553	broad.mit.edu	37	6	99729068	99729068	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:99729068T>G	uc003ppj.3	-	6	1485	c.1202A>C	c.(1201-1203)GAC>GCC	p.D401A	C6orf168_uc003ppi.3_Missense_Mutation_p.D121A	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	401										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		GTCTGTATAGTCATCCATGTC	0.502000												
MCHR2	84539	broad.mit.edu	37	6	100390836	100390836	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:100390836G>A	uc003pqh.1	-	4	891	c.576C>T	c.(574-576)GAC>GAT	p.D192D	MCHR2_uc003pqi.1_Silent_p.D192D	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	192	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGAGTACATCGTCAGGGGATG	0.413000												
FOXO3	2309	broad.mit.edu	37	6	108882671	108882671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:108882671C>T	uc003psk.2	+	2	576	c.260C>T	c.(259-261)ACG>ATG	p.T87M	FOXO3_uc003psn.2_Missense_Mutation_p.T87M|FOXO3_uc003psm.2_Missense_Mutation_p.T87M	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	87					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGGAGCGGCACGCTGGGCTCC	0.761000												
LAMA4	3910	broad.mit.edu	37	6	112430676	112430676	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:112430676G>A	uc003pvu.2	-	39	5745	c.5436C>T	c.(5434-5436)AGC>AGT	p.S1812S	LAMA4_uc003pvv.2_Silent_p.S1805S|LAMA4_uc003pvt.2_Silent_p.S1805S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1812	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTACGGCGCCGCTGACCAGGG	0.532000												
GPRC6A	222545	broad.mit.edu	37	6	117113654	117113654	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:117113654G>A	uc003pxj.1	-	6	2454	c.2432C>T	c.(2431-2433)CCA>CTA	p.P811L	GPRC6A_uc003pxk.1_Missense_Mutation_p.P636L|GPRC6A_uc003pxl.1_Missense_Mutation_p.P740L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	811	Helical; Name=7; (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)		CTCCACAGCTGGTACATATTT	0.343000												
MOXD1	26002	broad.mit.edu	37	6	132618385	132618385	+	Silent	SNP	C	C	T	rs146840521	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:132618385C>T	uc003qdf.2	-	12	1848	c.1749G>A	c.(1747-1749)ACG>ACA	p.T583T	MOXD1_uc003qde.2_Silent_p.T515T	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	583	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGGAAGAAGACGTGCCACACA	0.438000												
HECA	51696	broad.mit.edu	37	6	139488244	139488244	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:139488244C>T	uc003qin.2	+	2	1380	c.1095C>T	c.(1093-1095)CAC>CAT	p.H365H		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	365					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		ACACTTTCCACGTGCGCATGG	0.597000												
UTRN	7402	broad.mit.edu	37	6	144898290	144898290	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:144898290C>T	uc003qkt.2	+	50	7437	c.7345C>T	c.(7345-7347)CGC>TGC	p.R2449C		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2449	Spectrin 17.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCAGGCCTCTCGCAGAGATCT	0.498000												
PLEKHG1	57480	broad.mit.edu	37	6	151152273	151152273	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:151152273C>T	uc003qny.1	+	16	2338	c.2026C>T	c.(2026-2028)CGG>TGG	p.R676W	PLEKHG1_uc011eel.1_Missense_Mutation_p.R716W|PLEKHG1_uc011eem.1_Missense_Mutation_p.R735W|PLEKHG1_uc003qnz.2_Missense_Mutation_p.R676W	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	676					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)		GGTTGCTAAGCGGGAAGAAGC	0.478000												
CLDN20	49861	broad.mit.edu	37	6	155597113	155597113	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:155597113C>T	uc003qql.1	+	2	640	c.260C>T	c.(259-261)GCG>GTG	p.A87V	TFB1M_uc003qqj.3_Intron|TFB1M_uc003qqk.2_Intron	NM_001001346	NP_001001346	P56880	CLD20_HUMAN	claudin 20	87	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		ATGGTCCTGGCGTGTGTTCTG	0.542000												
ZDHHC14	79683	broad.mit.edu	37	6	158066823	158066823	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:158066823A>G	uc003qqt.2	+	6	1304	c.807A>G	c.(805-807)TCA>TCG	p.S269S	ZDHHC14_uc003qqs.2_Silent_p.S269S|ZDHHC14_uc010kjn.2_5'UTR	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	269	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TTGGCCTCTCAGGATTCCACA	0.557000												
FNDC1	84624	broad.mit.edu	37	6	159653470	159653470	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:159653470C>T	uc010kjv.2	+	11	2126	c.1926C>T	c.(1924-1926)AAC>AAT	p.N642N	FNDC1_uc010kjw.1_Silent_p.N527N	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	642						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGAATGACAACGACTTGGTGG	0.701000												
MRPL18	29074	broad.mit.edu	37	6	160219129	160219129	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:160219129C>T	uc003qsw.3	+	4	645	c.517C>T	c.(517-519)CGG>TGG	p.R173W	MRPL18_uc010kkb.2_RNA|PNLDC1_uc003qsx.1_5'Flank|PNLDC1_uc003qsy.1_5'Flank	NM_014161	NP_054880	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18 precursor	173					rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		TGTGGTTCTACGGGAACCTCA	0.383000												
PARK2	5071	broad.mit.edu	37	6	161771140	161771140	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:161771140G>A	uc003qtx.3	-	12	1523	c.1389C>T	c.(1387-1389)TTC>TTT	p.F463F	PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Silent_p.F272F|PARK2_uc003qtw.3_3'UTR|PARK2_uc003qty.3_Silent_p.F435F|PARK2_uc003qtz.3_Silent_p.F314F|PARK2_uc011egf.1_Silent_p.F137F	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	463					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GCTACACGTCGAACCAGTGGT	0.572000												
C6orf118	168090	broad.mit.edu	37	6	165706906	165706906	+	Silent	SNP	T	T	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:165706906T>A	uc003qum.3	-	6	1152	c.1116A>T	c.(1114-1116)CGA>CGT	p.R372R	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	372	Potential.										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)		ACCTGCCTGATCGTTCCTTTG	0.463000												
C6orf118	168090	broad.mit.edu	37	6	165715084	165715084	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:165715084C>T	uc003qum.3	-	2	763	c.727G>A	c.(727-729)GCG>ACG	p.A243T	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	243											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)		TCGTGGCCCGCGGCCGCCTTG	0.607000												
UNC93A	54346	broad.mit.edu	37	6	167709603	167709603	+	Missense_Mutation	SNP	C	C	T	rs34631973	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:167709603C>T	uc003qvq.2	+	3	528	c.353C>T	c.(352-354)ACG>ATG	p.T118M	UNC93A_uc003qvr.2_Missense_Mutation_p.T118M	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	118						integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTCACGATCACGGGAAACACA	0.542000												
KIF25	3834	broad.mit.edu	37	6	168443281	168443281	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:168443281G>A	uc003qwk.1	+	8	1132	c.870G>A	c.(868-870)GCG>GCA	p.A290A	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	290	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGAGATGGCGTGCATCAGCC	0.647000												
DLL1	28514	broad.mit.edu	37	6	170592774	170592774	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:170592774G>A	uc003qxm.2	-	9	2063	c.1593C>T	c.(1591-1593)GAC>GAT	p.D531D		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	531	Extracellular (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TCTCAGTGAGGTCCACCACCG	0.697000												
GPER	2852	broad.mit.edu	37	7	1131745	1131745	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:1131745C>T	uc010ksd.1	+	2	770	c.381C>T	c.(379-381)GCC>GCT	p.A127A	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.A127A|GPER_uc003ska.1_Silent_p.A127A|GPER_uc003skb.2_Silent_p.A127A	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	127	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		ACGACATCGCCGTCCTGTGCA	0.587000												
SNX8	29886	broad.mit.edu	37	7	2317940	2317940	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:2317940T>A	uc003slw.2	-	2	138	c.95A>T	c.(94-96)GAT>GTT	p.D32V		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	32					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TGTCGGCAGATCTGCAGGGGA	0.488000												
CHST12	55501	broad.mit.edu	37	7	2472943	2472943	+	Silent	SNP	C	C	T	rs148723150		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:2472943C>T	uc003smc.2	+	2	804	c.669C>T	c.(667-669)TAC>TAT	p.Y223Y	CHST12_uc003smd.2_Silent_p.Y223Y	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	223	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GGCGCCGCTACGGGAAGCTCT	0.652000												
C7orf27	221927	broad.mit.edu	37	7	2580614	2580614	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:2580614G>A	uc003smi.2	-	10	1436	c.1394C>T	c.(1393-1395)ACG>ATG	p.T465M	C7orf27_uc003smh.3_Translation_Start_Site	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	465					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		CCACCGTACCGTGGGGCTGGA	0.677000												
IQCE	23288	broad.mit.edu	37	7	2632682	2632682	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:2632682C>T	uc003smo.3	+	15	1455	c.1271C>T	c.(1270-1272)GCG>GTG	p.A424V	IQCE_uc010ksm.1_Missense_Mutation_p.A424V|IQCE_uc003sml.1_Missense_Mutation_p.A424V|IQCE_uc011jvy.1_Missense_Mutation_p.A408V|IQCE_uc011jvz.1_Missense_Mutation_p.A359V|IQCE_uc003smk.3_Missense_Mutation_p.A408V|IQCE_uc003smn.3_Missense_Mutation_p.A359V	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	424	Potential.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CTCCTGCAGGCGAAGGCCGAC	0.383000												
RADIL	55698	broad.mit.edu	37	7	4841602	4841602	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:4841602C>T	uc003snj.1	-	12	2697	c.2524G>A	c.(2524-2526)GGG>AGG	p.G842R	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.G347R|RADIL_uc011jwc.1_Missense_Mutation_p.G602R|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Missense_Mutation_p.G138R	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	842					cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCCAGGTGCCCGTCAAGGACC	0.687000												
PAPOLB	56903	broad.mit.edu	37	7	4901260	4901260	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:4901260C>T	uc003snk.2	-	1	366	c.182G>A	c.(181-183)CGC>CAC	p.R61H	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	60					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TAAAATCCTGCGCTGCAGTTC	0.473000												
MMD2	221938	broad.mit.edu	37	7	4949602	4949602	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:4949602G>A	uc003sno.3	-	6	715	c.519C>T	c.(517-519)GGC>GGT	p.G173G	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Intron|MMD2_uc010ksq.2_Intron	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	173	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GACAAGCCGTGCCGGCCTTAG	0.567000												
SLC29A4	222962	broad.mit.edu	37	7	5327554	5327554	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:5327554C>A	uc003sod.2	+	2	268	c.107C>A	c.(106-108)GCG>GAG	p.A36E	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.A36E|SLC29A4_uc003soe.2_Missense_Mutation_p.A36E	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	36	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CTGGAGGAGGCGGCGGAGGCG	0.672000												
FBXL18	80028	broad.mit.edu	37	7	5540290	5540290	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:5540290G>A	uc003soo.2	-	3	1704	c.1610C>T	c.(1609-1611)ACG>ATG	p.T537M	FBXL18_uc003son.3_Missense_Mutation_p.T537M	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	537	LRR 9.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CTGTGCGAGCGTCAGGTGCCG	0.697000												
FSCN1	6624	broad.mit.edu	37	7	5643549	5643549	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:5643549C>T	uc003sou.2	+	4	1281	c.1167C>T	c.(1165-1167)CGC>CGT	p.R389R	FSCN1_uc003sov.2_Silent_p.R111R|FSCN1_uc003sow.2_Silent_p.R111R	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	389					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TCGTGTTCCGCGGGGAGCATG	0.617000												
SOSTDC1	25928	broad.mit.edu	37	7	16502286	16502286	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:16502286G>A	uc003stg.2	-	2	689	c.508C>T	c.(508-510)CGG>TGG	p.R170W	SOSTDC1_uc003sth.2_Missense_Mutation_p.R194W	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1 precursor	170	CTCK.				Wnt receptor signaling pathway					ovary(2)|central_nervous_system(1)	3	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTGTGCTGCCGGGTGTACCTC	0.537000												
SOSTDC1	25928	broad.mit.edu	37	7	16502300	16502300	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:16502300C>T	uc003stg.2	-	2	675	c.494G>A	c.(493-495)TGC>TAC	p.C165Y	SOSTDC1_uc003sth.2_Missense_Mutation_p.C189Y	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1 precursor	165	CTCK.				Wnt receptor signaling pathway					ovary(2)|central_nervous_system(1)	3	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GTACCTCTTGCACTTGCAGGC	0.542000												
DNAH11	8701	broad.mit.edu	37	7	21760398	21760398	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:21760398G>A	uc003svc.2	+	45	7242	c.7211G>A	c.(7210-7212)AGC>AAC	p.S2404N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2404					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						CCTTCTGACAGCCCAAAAGAA	0.353000									Kartagener_syndrome			
HOXA2	3199	broad.mit.edu	37	7	27140938	27140938	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:27140938G>T	uc003syh.2	-	2	813	c.538C>A	c.(538-540)CTG>ATG	p.L180M		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	180	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GTCAAATCCAGCAGCGCTGCA	0.478000												
HOXA3	3200	broad.mit.edu	37	7	27147924	27147924	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:27147924C>T	uc011jzl.1	-	3	1142	c.942G>A	c.(940-942)GCG>GCA	p.A314A	HOXA3_uc011jzk.1_Silent_p.A156A|HOXA3_uc003syk.2_Silent_p.A314A	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	314					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						TGGGCAGGGACGCAGGGTAGG	0.726000												
HOXA3	3200	broad.mit.edu	37	7	27150221	27150221	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:27150221G>A	uc011jzl.1	-	2	239	c.39C>T	c.(37-39)TAC>TAT	p.Y13Y	HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Silent_p.Y13Y	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	13					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						GGTAGCCACCGTAGATCGCCG	0.607000												
TXNDC3	51314	broad.mit.edu	37	7	37901657	37901657	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:37901657G>T	uc003tfn.2	+	7	670	c.298G>T	c.(298-300)GGT>TGT	p.G100C		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	100	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						AAAGATTCAGGGTGCAAATGC	0.378000									Kartagener_syndrome			
TARP	445347	broad.mit.edu	37	7	38357047	38357047	+	Splice_Site	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:38357047C>T	uc003tge.1	-	2	423	c.46_splice	c.e2+1	p.L16_splice	uc003tfz.1_5'Flank|TARP_uc003tgf.1_5'Flank|TARP_uc003tgj.1_5'Flank|TARP_uc003tgh.1_5'Flank|TARP_uc003tgi.1_5'Flank|TARP_uc003tgg.1_5'Flank			A2JGV3	A2JGV3_HUMAN	Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.												0						AAACTACTTACGAGCCCCAAG	0.448000												
POLM	27434	broad.mit.edu	37	7	44112960	44112960	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:44112960G>A	uc003tjt.2	-	11	1507	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V	POLM_uc003tjw.1_Missense_Mutation_p.R109W|POLM_uc003tju.2_Missense_Mutation_p.A435V|POLM_uc003tjx.2_Missense_Mutation_p.R410W|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Missense_Mutation_p.R140W	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	472					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						CTCTGAAGCCGCTTGGAAAAA	0.567000								DNA_polymerases_(catalytic_subunits)				
OGDH	4967	broad.mit.edu	37	7	44734127	44734127	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:44734127C>T	uc003tln.2	+	12	1729	c.1620C>T	c.(1618-1620)TAC>TAT	p.Y540Y	OGDH_uc011kbx.1_Silent_p.Y536Y|OGDH_uc011kby.1_Silent_p.Y390Y|OGDH_uc003tlp.2_Silent_p.Y551Y|OGDH_uc011kbz.1_Silent_p.Y335Y|OGDH_uc003tlo.1_Silent_p.Y373Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	540					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TACAGAAGTACGCTGAGCTGC	0.587000												
TNS3	64759	broad.mit.edu	37	7	47343041	47343041	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:47343041G>A	uc003tnv.2	-	22	3331	c.2964C>T	c.(2962-2964)TTC>TTT	p.F988F	TNS3_uc003tnw.2_Silent_p.F988F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	988						focal adhesion	protein binding			ovary(4)	4						CTGACGGCGGGAAGCAGGACA	0.672000												
PKD1L1	168507	broad.mit.edu	37	7	47879214	47879214	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:47879214C>T	uc003tny.1	-	36	5599	c.5599G>A	c.(5599-5601)GAC>AAC	p.D1867N		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1867	PLAT.|Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CCACGGCTGTCGTGCCAGAGG	0.652000												
ZNF713	349075	broad.mit.edu	37	7	56007338	56007338	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:56007338G>A	uc003trc.1	+	4	970	c.932G>A	c.(931-933)CGT>CAT	p.R311H	ZNF713_uc003tra.1_Missense_Mutation_p.R324H|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	311	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)			AAAGCCTTCCGTCAGCATTCA	0.403000												
AUTS2	26053	broad.mit.edu	37	7	70254984	70254984	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:70254984G>A	uc003tvw.3	+	19	3525	c.2782G>A	c.(2782-2784)GCC>ACC	p.A928T	AUTS2_uc003tvx.3_Missense_Mutation_p.A904T|AUTS2_uc011keg.1_Missense_Mutation_p.A380T	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	928										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGAGGGGCGCGCCGCGGGCGA	0.716000												
WBSCR17	64409	broad.mit.edu	37	7	70885914	70885914	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:70885914G>A	uc003tvy.2	+	5	785	c.785G>A	c.(784-786)CGC>CAC	p.R262H	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	262	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTTCTATCCCGCATCCAGGAA	0.537000												
TRIM50	135892	broad.mit.edu	37	7	72738631	72738631	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:72738631C>T	uc010lbd.1	-	2	280	c.155G>A	c.(154-156)CGC>CAC	p.R52H	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.R52H|TRIM50_uc003txz.1_Missense_Mutation_p.R52H	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	tripartite motif protein 50A	52	RING-type.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			skin(1)	1						CACGGGGCAGCGCAGCTCGGC	0.677000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TBL2	26608	broad.mit.edu	37	7	72985188	72985188	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:72985188A>G	uc003tyh.2	-	7	1127	c.993T>C	c.(991-993)GGT>GGC	p.G331G	TBL2_uc011kex.1_Silent_p.G295G|TBL2_uc010lbg.2_Silent_p.G236G|TBL2_uc003tyi.2_Silent_p.G166G|TBL2_uc011key.1_Silent_p.G202G|TBL2_uc010lbh.2_Silent_p.G236G	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	331	WD 6.										0		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACGGCGCGGCACCCGCCGCCT	0.602000												
WBSCR22	114049	broad.mit.edu	37	7	73106929	73106929	+	Missense_Mutation	SNP	C	C	T	rs141991727		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:73106929C>T	uc003tyt.2	+	7	521	c.463C>T	c.(463-465)CGG>TGG	p.R155W	WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.R155W|WBSCR22_uc003tyv.2_Missense_Mutation_p.R117W|WBSCR22_uc003tyw.1_Missense_Mutation_p.R18W	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	155						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTTTCAGGTCCGGGGATCCCG	0.488000												
PCLO	27445	broad.mit.edu	37	7	82387901	82387901	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:82387901T>C	uc003uhx.2	-	25	15708	c.15419A>G	c.(15418-15420)CAA>CGA	p.Q5140R		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	5063					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCAATGCGTTTGAGTAGGACT	0.378000												
PCLO	27445	broad.mit.edu	37	7	82595405	82595405	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:82595405C>T	uc003uhx.2	-	4	3988	c.3699G>A	c.(3697-3699)AAG>AAA	p.K1233K	PCLO_uc003uhv.2_Silent_p.K1233K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1172					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTAGGAGTGGCTTTTTTTCTT	0.383000												
DMTF1	9988	broad.mit.edu	37	7	86811625	86811625	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:86811625C>T	uc003uih.2	+	10	1118	c.792C>T	c.(790-792)TGC>TGT	p.C264C	DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Silent_p.C176C|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.C264C|DMTF1_uc003uin.2_5'UTR	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	264	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					AAGATCGGTGCCGACTGATGA	0.493000												
ADAM22	53616	broad.mit.edu	37	7	87765316	87765316	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:87765316C>T	uc003ujn.2	+	14	1269	c.1190C>T	c.(1189-1191)ACG>ATG	p.T397M	ADAM22_uc003ujk.1_Missense_Mutation_p.T397M|ADAM22_uc003ujl.1_Missense_Mutation_p.T397M|ADAM22_uc003ujm.2_Missense_Mutation_p.T397M|ADAM22_uc003ujo.2_Missense_Mutation_p.T397M|ADAM22_uc003ujp.1_Missense_Mutation_p.T449M	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	397	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGCGAGGACACGTGGTCCGGG	0.373000												
C7orf63	79846	broad.mit.edu	37	7	89939548	89939548	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:89939548C>T	uc010lep.2	+	23	3073	c.2822C>T	c.(2821-2823)ACG>ATG	p.T941M	C7orf63_uc011khj.1_Missense_Mutation_p.T923M|C7orf63_uc011khk.1_Missense_Mutation_p.T457M	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	941							binding			ovary(1)	1						AGTATTCCTACGTAATATACT	0.308000												
CYP51A1	1595	broad.mit.edu	37	7	91752621	91752621	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:91752621C>T	uc003ulm.3	-	7	1061	c.899G>A	c.(898-900)CGT>CAT	p.R300H	CYP51A1_uc011khn.1_Missense_Mutation_p.R195H|CYP51A1_uc003uln.3_Missense_Mutation_p.R237H	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	294					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	AGTCAAAGGACGCCCATCCCT	0.393000												
SAMD9	54809	broad.mit.edu	37	7	92732292	92732292	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:92732292C>T	uc003umf.2	-	3	3375	c.3119G>A	c.(3118-3120)CGC>CAC	p.R1040H	SAMD9_uc003umg.2_Missense_Mutation_p.R1040H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1040						cytoplasm		p.R1040L(1)		ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTTCATCGCGGTGTCTTGT	0.363000												
COL1A2	1278	broad.mit.edu	37	7	94052330	94052330	+	Missense_Mutation	SNP	G	G	A	rs1800240		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:94052330G>A	uc003ung.1	+	40	2936	c.2465G>A	c.(2464-2466)CGT>CAT	p.R822H	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	822			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CGTGGTCCTCGTGGTGACCAA	0.557000										HNSCC(75;0.22)		
COL1A2	1278	broad.mit.edu	37	7	94057007	94057007	+	Silent	SNP	C	C	T	rs34691365	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:94057007C>T	uc003ung.1	+	49	3807	c.3336C>T	c.(3334-3336)TAC>TAT	p.Y1112Y	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1112					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACTTTGGTTACGATGGAGACT	0.547000										HNSCC(75;0.22)		
PPP1R9A	55607	broad.mit.edu	37	7	94917878	94917878	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:94917878A>G	uc003unp.2	+	15	3214	c.2932A>G	c.(2932-2934)AGT>GGT	p.S978G	PPP1R9A_uc010lfj.2_Missense_Mutation_p.S1254G|PPP1R9A_uc011kif.1_Missense_Mutation_p.S1176G|PPP1R9A_uc003unq.2_Intron|PPP1R9A_uc011kig.1_Missense_Mutation_p.S970G|PPP1R9A_uc003unr.2_Missense_Mutation_p.S267G	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	978	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCCCAAACACAGTCAGTGTCA	0.428000										HNSCC(28;0.073)		
LMTK2	22853	broad.mit.edu	37	7	97821441	97821441	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:97821441T>C	uc003upd.1	+	11	1957	c.1664T>C	c.(1663-1665)TTA>TCA	p.L555S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	555					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TATATCCAGTTAGAAGAAAAA	0.502000												
ARPC1A	10552	broad.mit.edu	37	7	98935830	98935830	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:98935830G>A	uc003upx.1	+	3	238	c.91G>A	c.(91-93)GAA>AAA	p.E31K	ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.E17K|ARPC1A_uc011kit.1_RNA	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex subunit 1A	31	WD 1.				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CAATAATCACGAAGTGCACAT	0.468000												
AP4M1	9179	broad.mit.edu	37	7	99702683	99702683	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:99702683T>C	uc003utb.3	+	9	897	c.689T>C	c.(688-690)TTG>TCG	p.L230S	AP4M1_uc011kjg.1_Missense_Mutation_p.L184S|AP4M1_uc010lgl.1_Missense_Mutation_p.L230S|AP4M1_uc003utc.3_Missense_Mutation_p.L237S|AP4M1_uc010lgm.2_Missense_Mutation_p.L102S|AP4M1_uc003utd.2_Missense_Mutation_p.L230S|AP4M1_uc011kjh.1_Missense_Mutation_p.L182S|AP4M1_uc003ute.3_Missense_Mutation_p.L5S|AP4M1_uc003utf.3_Missense_Mutation_p.L102S	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	230	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCATTGGCTTGACGGAAGAG	0.532000												
ZAN	7455	broad.mit.edu	37	7	100361492	100361492	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:100361492G>A	uc003uwj.2	+	21	4215	c.4050G>A	c.(4048-4050)TCG>TCA	p.S1350S	ZAN_uc003uwk.2_Silent_p.S1350S|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1350	VWFD 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCAGCATGTCGGGGCCAGGGT	0.577000												
MUC17	140453	broad.mit.edu	37	7	100677551	100677551	+	Missense_Mutation	SNP	A	A	G	rs146914932		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:100677551A>G	uc003uxp.1	+	3	2907	c.2854A>G	c.(2854-2856)AGC>GGC	p.S952G	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	952	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14.					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)					TGTTGACACCAGCACACCTGT	0.507000												
CUX1	1523	broad.mit.edu	37	7	101921277	101921277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:101921277C>T	uc003uyt.2	+	18	1640	c.1621C>T	c.(1621-1623)CGC>TGC	p.R541C	CUX1_uc011kkn.1_Missense_Mutation_p.R502C|CUX1_uc003uyw.2_Missense_Mutation_p.R495C|CUX1_uc003uyv.2_Missense_Mutation_p.R525C|CUX1_uc003uyu.2_Missense_Mutation_p.R539C|CUX1_uc003uyz.2_RNA	NM_001913	NP_001904	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform b	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GGACAGCCTGCGCGCCGACAA	0.672000												
CUX1	1523	broad.mit.edu	37	7	101925162	101925162	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:101925162C>T	uc003uyt.2	+	21	1871	c.1852C>T	c.(1852-1854)CGC>TGC	p.R618C	CUX1_uc011kkn.1_Missense_Mutation_p.R579C|CUX1_uc003uyw.2_Missense_Mutation_p.R572C|CUX1_uc003uyv.2_Missense_Mutation_p.R602C|CUX1_uc003uyu.2_Missense_Mutation_p.R616C|CUX1_uc003uyz.2_RNA	NM_001913	NP_001904	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform b	Error:Variant_position_missing_in_P39880_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						CAAGATGGCGCGCACCATCGG	0.652000												
RELN	5649	broad.mit.edu	37	7	103155812	103155812	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:103155812C>T	uc003vca.2	-	50	8099	c.7939G>A	c.(7939-7941)GGC>AGC	p.G2647S	RELN_uc010liz.2_Missense_Mutation_p.G2647S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2647					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)		TGATCCAGGCCGTCATGTCTT	0.532000												
RELN	5649	broad.mit.edu	37	7	103163922	103163922	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:103163922G>A	uc003vca.2	-	47	7566	c.7406C>T	c.(7405-7407)ACA>ATA	p.T2469I	RELN_uc010liz.2_Missense_Mutation_p.T2469I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2469					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)		TATTGCCCATGTCTGCTGCTT	0.463000												
RINT1	60561	broad.mit.edu	37	7	105182968	105182968	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:105182968C>T	uc003vda.1	+	4	618	c.387C>T	c.(385-387)AGC>AGT	p.S129S	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	129					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						ATCTCTTCAGCGCCATTAACA	0.408000												
ATXN7L1	222255	broad.mit.edu	37	7	105516960	105516960	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:105516960A>G	uc003vde.2	-	1	72	c.45T>C	c.(43-45)GCT>GCC	p.A15A	ATXN7L1_uc003vdi.2_Silent_p.A15A|CDHR3_uc003vdk.2_5'Flank|uc003vdj.1_5'Flank	NM_020725	NP_065776	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1 isoform 1	15											0						TTCCTTCGGCAGCAGCAGCCG	0.498000												
DLD	1738	broad.mit.edu	37	7	107559493	107559493	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:107559493G>A	uc003vet.2	+	13	1523	c.1413G>A	c.(1411-1413)TTG>TTA	p.L471L	DLD_uc011kmg.1_Silent_p.L423L|DLD_uc011kmh.1_Silent_p.L448L|DLD_uc011kmi.1_Silent_p.L372L	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	471					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	CTCTTGCTTTGGAATATGGAG	0.368000												
NRCAM	4897	broad.mit.edu	37	7	107818475	107818475	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:107818475C>T	uc003vfb.2	-	26	3405	c.2934G>A	c.(2932-2934)CCG>CCA	p.P978P	NRCAM_uc003vfc.2_Silent_p.P962P|NRCAM_uc011kmk.1_Silent_p.P973P|NRCAM_uc003vfd.2_Silent_p.P954P|NRCAM_uc003vfe.2_Silent_p.P954P|NRCAM_uc011kmj.1_5'Flank	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	978	Fibronectin type-III 4.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						AAATGCCATTCGGGTGGCTCG	0.413000												
PPP1R3A	5506	broad.mit.edu	37	7	113519666	113519666	+	Missense_Mutation	SNP	G	G	A	rs17847377	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:113519666G>A	uc010ljy.1	-	4	1512	c.1481C>T	c.(1480-1482)TCG>TTG	p.S494L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	494					glycogen metabolic process	integral to membrane		p.S494L(1)		lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						GAGACATGCCGACGTATCTGA	0.333000												
HYAL4	23553	broad.mit.edu	37	7	123516944	123516944	+	Missense_Mutation	SNP	C	C	T	rs150077532	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:123516944C>T	uc003vlc.2	+	5	1819	c.1181C>T	c.(1180-1182)GCG>GTG	p.A394V	HYAL4_uc011knz.1_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	394	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						ATGTGGAACGCGCCCAGTTAC	0.507000												
GCC1	79571	broad.mit.edu	37	7	127222456	127222456	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:127222456G>A	uc003vma.2	-	2	2358	c.1940C>T	c.(1939-1941)GCG>GTG	p.A647V		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	647	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						CTCATTGGCCGCTGCAAGTTG	0.587000												
SND1	27044	broad.mit.edu	37	7	127729627	127729627	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:127729627C>T	uc003vmi.2	+	22	2731	c.2505C>T	c.(2503-2505)GCC>GCT	p.A835A	SND1_uc010lle.2_Silent_p.A488A	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	835					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						ACCTGAGTGCCGGCTGCCCCC	0.607000												
C7orf68	29923	broad.mit.edu	37	7	128097324	128097324	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:128097324T>C	uc003vne.3	+	2	264	c.2T>C	c.(1-3)ATG>ACG	p.M1T	C7orf68_uc010lli.2_Missense_Mutation_p.M1T|C7orf68_uc010llj.1_Intron	NM_013332	NP_037464	Q9Y5L2	HIG2_HUMAN	hypoxia-inducible protein 2	1					autocrine signaling|positive regulation of cell proliferation|response to stress	cell surface|extracellular space|integral to membrane|stored secretory granule	receptor binding				0						CTTTCAGCCATGAAGCATGTG	0.488000												
TSGA13	114960	broad.mit.edu	37	7	130356601	130356601	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:130356601G>A	uc003vqi.2	-	7	1015	c.558C>T	c.(556-558)AGC>AGT	p.S186S	TSGA13_uc003vqj.2_Silent_p.S186S	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	testis specific, 13	186										ovary(2)	2	Melanoma(18;0.0435)					ACTTCCCTTCGCTCTTGAAAT	0.388000												
EXOC4	60412	broad.mit.edu	37	7	132973839	132973839	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:132973839G>A	uc003vrk.2	+	3	475	c.440G>A	c.(439-441)AGC>AAC	p.S147N	EXOC4_uc011kpo.1_Missense_Mutation_p.S46N|EXOC4_uc003vri.2_Missense_Mutation_p.S147N|EXOC4_uc003vrj.2_Missense_Mutation_p.S147N	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	147					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				TGCATGGCCAGCAAGCACTAT	0.423000												
CALD1	800	broad.mit.edu	37	7	134632499	134632499	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:134632499C>T	uc003vrz.2	+	8	2232	c.1773C>T	c.(1771-1773)GCC>GCT	p.A591A	CALD1_uc003vry.2_Silent_p.A336A|CALD1_uc003vsa.2_Silent_p.A362A|CALD1_uc003vsb.2_Silent_p.A336A|CALD1_uc010lmm.2_Silent_p.A362A|CALD1_uc011kpt.1_Silent_p.A110A|CALD1_uc003vsc.2_Silent_p.A356A|CALD1_uc003vsd.2_Silent_p.A330A|CALD1_uc011kpu.1_Silent_p.A341A|CALD1_uc011kpv.1_Silent_p.A200A|CALD1_uc003vse.2_Silent_p.A455A	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	591	Tropomyosin-binding (Potential).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						aggaggaagCCGATCGAAAAC	0.294000												
MKRN1	23608	broad.mit.edu	37	7	140156541	140156541	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:140156541G>A	uc003vvt.2	-	5	1122	c.897C>T	c.(895-897)TTC>TTT	p.F299F	MKRN1_uc003vvs.2_Silent_p.F235F|MKRN1_uc011krd.1_Silent_p.F33F|MKRN1_uc003vvv.3_Silent_p.F299F|MKRN1_uc003vvu.3_Silent_p.F235F	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1 isoform 1	299	RING-type.						ligase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.00956)					AGAGGATCCCGAAGCGGCGCT	0.527000												
MGAM	8972	broad.mit.edu	37	7	141727518	141727518	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:141727518G>A	uc003vwy.2	+	10	1258	c.1204G>A	c.(1204-1206)GCA>ACA	p.A402T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	402	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGAAATCGCGCAGCACAGCT	0.453000												
NOBOX	135935	broad.mit.edu	37	7	144098303	144098303	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:144098303C>T	uc011kue.1	-	4	680	c.680G>A	c.(679-681)CGT>CAT	p.R227H		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	227					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					GTGTGTGGCACGGGCTGAGTT	0.597000												
ZNF425	155054	broad.mit.edu	37	7	148801229	148801229	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:148801229G>A	uc003wfj.2	-	4	1807	c.1734C>T	c.(1732-1734)GAC>GAT	p.D578D		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	578					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGGGCTTCTCGTCCCTGTGCA	0.602000												
ZNF862	643641	broad.mit.edu	37	7	149545202	149545202	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:149545202C>T	uc010lpn.2	+	4	812	c.620C>T	c.(619-621)GCA>GTA	p.A207V	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	207	TTF-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						AATGCCTTGGCAGCGAGGGAC	0.572000												
ABCB8	11194	broad.mit.edu	37	7	150730745	150730745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:150730745G>A	uc003wil.3	+	3	293	c.200G>A	c.(199-201)CGG>CAG	p.R67Q	ABCB8_uc003wii.2_Missense_Mutation_p.R87Q|ABCB8_uc003wij.3_Missense_Mutation_p.R50Q|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.2_Missense_Mutation_p.R50Q|ABCB8_uc011kvd.1_Intron|ABCB8_uc003wim.3_Intron|ABCB8_uc003wik.3_Missense_Mutation_p.R50Q	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	67						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCACCTGCGGTCCCAGCTC	0.677000												
AGAP3	116988	broad.mit.edu	37	7	150839596	150839596	+	Silent	SNP	C	C	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:150839596C>G	uc003wjg.1	+	16	2151	c.2148C>G	c.(2146-2148)TCC>TCG	p.S716S	AGAP3_uc003wje.1_Silent_p.S385S|AGAP3_uc003wjj.1_Silent_p.S215S|AGAP3_uc003wjk.1_Silent_p.S134S	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	680	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						GGGTGCGCTCCCTTGACCTCG	0.642000												
CRYGN	155051	broad.mit.edu	37	7	151135151	151135151	+	Silent	SNP	G	G	A	rs139524541		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:151135151G>A	uc003wke.2	-	2	297	c.201C>T	c.(199-201)GGC>GGT	p.G67G	CRYGN_uc003wkf.2_Silent_p.G67G|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	67	Beta/gamma crystallin 'Greek key' 2.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGGTAGTCGCCGTGCTCCA	0.607000												
PTPRN2	5799	broad.mit.edu	37	7	157931052	157931052	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:157931052C>A	uc003wno.2	-	7	1187	c.1066G>T	c.(1066-1068)GCC>TCC	p.A356S	PTPRN2_uc003wnp.2_Missense_Mutation_p.A339S|PTPRN2_uc003wnq.2_Missense_Mutation_p.A356S|PTPRN2_uc003wnr.2_Missense_Mutation_p.A318S|PTPRN2_uc011kwa.1_Missense_Mutation_p.A379S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	356	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCTCCCAGGGCCGCTCTCCCA	0.672000												
WDR60	55112	broad.mit.edu	37	7	158738447	158738447	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:158738447C>T	uc003woe.3	+	25	3336	c.3178C>T	c.(3178-3180)CCA>TCA	p.P1060S	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Missense_Mutation_p.P692S	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	1060										ovary(2)|breast(1)|central_nervous_system(1)	4	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)		AGCCCTGTGGCCAGAGGGAAA	0.552000												
MYOM2	9172	broad.mit.edu	37	8	2040280	2040280	+	Silent	SNP	C	C	T	rs112566516		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:2040280C>T	uc003wpx.3	+	16	2073	c.1935C>T	c.(1933-1935)TAC>TAT	p.Y645Y	MYOM2_uc011kwi.1_Silent_p.Y70Y	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	645	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGGGCTACTACGTGGACTGCT	0.622000												
MFHAS1	9258	broad.mit.edu	37	8	8654933	8654933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:8654933G>A	uc003wsj.1	-	2	3630	c.3067C>T	c.(3067-3069)CGA>TGA	p.R1023*		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	1023											0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACATTTACTCGCTCGCTGCCG	0.572000												
RP1L1	94137	broad.mit.edu	37	8	10470311	10470311	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:10470311G>A	uc003wtc.2	-	4	1526	c.1297C>T	c.(1297-1299)CGC>TGC	p.R433C		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	433					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCACTGCAGCGGACGTGCTGG	0.682000												
C8orf74	203076	broad.mit.edu	37	8	10555303	10555303	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:10555303A>G	uc003wtd.1	+	3	465	c.436A>G	c.(436-438)ATG>GTG	p.M146V	C8orf74_uc003wte.1_RNA	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	hypothetical protein LOC203076	146											0				COAD - Colon adenocarcinoma(149;0.0811)		GGAGGTGTGCATGCCACCCCA	0.632000												
XKR6	286046	broad.mit.edu	37	8	10756078	10756078	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:10756078C>T	uc003wtk.1	-	3	1337	c.1310G>A	c.(1309-1311)CGG>CAG	p.R437Q		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	437						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ATATCGAGTCCGCCCTTCCTT	0.478000												
MTMR9	66036	broad.mit.edu	37	8	11180273	11180273	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:11180273G>T	uc003wtm.2	+	10	2024	c.1626G>T	c.(1624-1626)GAG>GAT	p.E542D	MTMR9_uc010lrx.2_Missense_Mutation_p.E435D|MTMR9_uc011kxa.1_Missense_Mutation_p.E457D|uc003wtn.1_5'Flank|uc003wto.1_Intron	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	542						cytoplasm	phosphatase activity|protein binding				0			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TGGAAACAGAGGACGGGATGC	0.468000												
NAT2	10	broad.mit.edu	37	8	18257858	18257858	+	Silent	SNP	C	C	T	rs45532639	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:18257858C>T	uc003wyw.1	+	2	452	c.345C>T	c.(343-345)GAC>GAT	p.D115D		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	115					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TGACCATTGACGGCAGGAATT	0.488000									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
DOK2	9046	broad.mit.edu	37	8	21769786	21769786	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:21769786G>A	uc003wzy.1	-	2	392	c.299C>T	c.(298-300)GCG>GTG	p.A100V	DOK2_uc003wzx.1_Missense_Mutation_p.A100V|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_Intron	NM_003974	NP_003965	O60496	DOK2_HUMAN	docking protein 2	100	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding				0				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCCGCGCTCCGCTGCAGGGGC	0.726000												
FAM160B2	64760	broad.mit.edu	37	8	21960389	21960389	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:21960389C>T	uc011kyx.1	+	17	2230	c.2179C>T	c.(2179-2181)CCC>TCC	p.P727S	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	727											0						CGTCAAGTTTCCCCCACATGA	0.652000												
HR	55806	broad.mit.edu	37	8	21983112	21983112	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:21983112G>A	uc003xas.2	-	4	2204	c.1539C>T	c.(1537-1539)CAC>CAT	p.H513H	HR_uc003xat.2_Silent_p.H513H	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	513							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)		CTTGCTGAGAGTGGCAGGCGT	0.647000												
LOXL2	4017	broad.mit.edu	37	8	23190950	23190950	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:23190950G>A	uc003xdh.1	-	5	1269	c.930C>T	c.(928-930)GAC>GAT	p.D310D	uc003xdj.2_5'Flank|uc003xdi.2_5'Flank	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	310					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)		TTGAGGGTCCGTCAGGGCTGA	0.627000												
ADAM7	8756	broad.mit.edu	37	8	24333950	24333950	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:24333950G>A	uc003xeb.2	+	8	751	c.638G>A	c.(637-639)CGC>CAC	p.R213H	ADAM7_uc003xec.2_5'UTR	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	213	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ttCCAGTATCGCAGAAATGGT	0.289000												
NEFM	4741	broad.mit.edu	37	8	24771772	24771772	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:24771772G>A	uc003xed.3	+	1	499	c.466G>A	c.(466-468)GAG>AAG	p.E156K	NEFM_uc011lac.1_Missense_Mutation_p.E156K|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	156	Rod.|Coil 1B.					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)		GGAGATCCGCGAGCTGCGCGC	0.647000												
KCTD9	54793	broad.mit.edu	37	8	25290076	25290076	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:25290076C>G	uc003xeo.2	-	11	1155	c.997G>C	c.(997-999)GCA>CCA	p.A333P	PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	333	Pentapeptide repeat 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TTCAACTTTGCATTTTTTAAG	0.403000												
CDCA2	157313	broad.mit.edu	37	8	25365223	25365223	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:25365223G>T	uc003xep.1	+	15	3520	c.3041G>T	c.(3040-3042)AGG>ATG	p.R1014M	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.R999M|CDCA2_uc003xer.1_Missense_Mutation_p.R677M	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1014					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GCCTTGGAAAGGATTGAACAT	0.433000												
FZD3	7976	broad.mit.edu	37	8	28413451	28413451	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:28413451A>G	uc003xgx.2	+	7	2228	c.1750A>G	c.(1750-1752)AGC>GGC	p.S584G	FZD3_uc010lvb.2_Missense_Mutation_p.S584G	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	584	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CAAAGTGAGCAGCTACCACGG	0.448000												
KIF13B	23303	broad.mit.edu	37	8	28989881	28989881	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:28989881G>T	uc003xhh.3	-	23	2945	c.2886C>A	c.(2884-2886)AAC>AAA	p.N962K	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	962					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)		ACAGGGCGGGGTTTTTCCGGG	0.398000												
TEX15	56154	broad.mit.edu	37	8	30700994	30700994	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:30700994G>A	uc003xil.2	-	1	5540	c.5540C>T	c.(5539-5541)TCG>TTG	p.S1847L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1847										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCCTGGATACGAATGAACTTT	0.348000												
KCNU1	157855	broad.mit.edu	37	8	36766851	36766851	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:36766851A>T	uc010lvw.2	+	21	2216	c.2129A>T	c.(2128-2130)TAT>TTT	p.Y710F	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	710	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAGTCAAAGTATAAGTTTCGG	0.468000												
GOT1L1	137362	broad.mit.edu	37	8	37792610	37792610	+	Silent	SNP	G	G	A	rs146808588	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:37792610G>A	uc011lbj.1	-	8	1153	c.1053C>T	c.(1051-1053)CAC>CAT	p.H351H		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	351					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			ovary(1)	1	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CAAGATAGCCGTGGGTCCCAC	0.527000												
ADAM2	2515	broad.mit.edu	37	8	39624771	39624771	+	Splice_Site	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:39624771C>A	uc003xnj.2	-	13	1288	c.1213_splice	c.e13-1	p.D405_splice	ADAM2_uc003xnk.2_Splice_Site_p.D386_splice|ADAM2_uc011lck.1_Splice_Site_p.D405_splice|ADAM2_uc003xnl.2_Splice_Site_p.D279_splice	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein						cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGGCACAATCCTGTAAGGCAA	0.383000												
IKBKB	3551	broad.mit.edu	37	8	42129709	42129709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:42129709C>T	uc003xow.1	+	2	268	c.91C>T	c.(91-93)CGA>TGA	p.R31*	IKBKB_uc003xov.2_Nonsense_Mutation_p.R31*|IKBKB_uc010lxh.1_Missense_Mutation_p.P20L|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.S3S|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Intron|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.S3S	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	31	Protein kinase.				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)	AAATGTCATCCGATGGCACAA	0.597000												
PXDNL	137902	broad.mit.edu	37	8	52321597	52321597	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:52321597C>T	uc003xqu.3	-	17	2688	c.2587G>A	c.(2587-2589)GCG>ACG	p.A863T	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	863					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)				CTGGAGCGCGCGAAGAGCATG	0.667000												
SOX17	64321	broad.mit.edu	37	8	55372549	55372549	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:55372549C>T	uc003xsb.3	+	2	1443	c.1239C>T	c.(1237-1239)GAC>GAT	p.D413D		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	413	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			ACTATCCTGACGTGTGACAGG	0.577000												
RP1	6101	broad.mit.edu	37	8	55542107	55542107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:55542107C>T	uc003xsd.1	+	4	5813	c.5665C>T	c.(5665-5667)CAA>TAA	p.Q1889*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1889					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)			TATTAAAAACCAACCATTGCC	0.408000												
BHLHE22	27319	broad.mit.edu	37	8	65494237	65494237	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:65494237C>T	uc003xvi.2	+	1	1424	c.890C>T	c.(889-891)GCG>GTG	p.A297V	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	297	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CTCATGCAGGCGCAGGCCCTG	0.682000												
SGK3	23678	broad.mit.edu	37	8	67763157	67763157	+	Splice_Site	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:67763157T>C	uc003xwr.2	+	16	1619	c.1320_splice	c.e16+2	p.V440_splice	SGK3_uc003xwp.2_Splice_Site_p.V434_splice|SGK3_uc003xwt.2_Splice_Site_p.V440_splice|SGK3_uc003xwu.2_Splice_Site_p.V408_splice	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase 3 isoform						cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCTAATGTGGTAAGTATATAT	0.338000												
LRRC67	286187	broad.mit.edu	37	8	67929861	67929861	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:67929861T>C	uc003xxc.2	-	2	267	c.122A>G	c.(121-123)GAT>GGT	p.D41G		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	leucine rich repeat containing 67	41	LRR 1.										0						TACAATTGCATCTATATTTTT	0.259000												
ARFGEF1	10565	broad.mit.edu	37	8	68138302	68138302	+	Nonsense_Mutation	SNP	G	G	A	rs146133956		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:68138302G>A	uc003xxo.1	-	28	4423	c.4033C>T	c.(4033-4035)CGA>TGA	p.R1345*	ARFGEF1_uc003xxl.1_Nonsense_Mutation_p.R799*|ARFGEF1_uc003xxn.1_Nonsense_Mutation_p.R328*	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1345					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CGAATAAGTCGAATTGCTTCC	0.393000												
SULF1	23213	broad.mit.edu	37	8	70570765	70570765	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:70570765G>T	uc010lza.1	+	23	3328	c.2611G>T	c.(2611-2613)GGT>TGT	p.G871C	SULF1_uc003xyd.2_Missense_Mutation_p.G871C|SULF1_uc003xye.2_Missense_Mutation_p.G871C|SULF1_uc003xyf.2_Missense_Mutation_p.G871C|SULF1_uc003xyg.2_Missense_Mutation_p.G871C|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_Missense_Mutation_p.K17N|SULF1_uc003xyj.1_Missense_Mutation_p.K17N	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	871					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGGATGGGAAGGTTAATCAGC	0.438000												
JPH1	56704	broad.mit.edu	37	8	75227703	75227703	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:75227703C>T	uc003yae.2	-	2	572	c.532G>A	c.(532-534)GAC>AAC	p.D178N	JPH1_uc003yaf.2_Missense_Mutation_p.D178N|JPH1_uc003yag.1_Missense_Mutation_p.D42N	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	178	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCTGCGGCGTCGTGGAGCACG	0.706000												
IMPA1	3612	broad.mit.edu	37	8	82586109	82586109	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:82586109T>C	uc003ych.2	-	6	551	c.424A>G	c.(424-426)AAT>GAT	p.N142D	IMPA1_uc011lfq.1_Missense_Mutation_p.N201D|IMPA1_uc011lfr.1_Missense_Mutation_p.N142D	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	142					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)	TTTTGACCATTACAAAAGGCA	0.333000												
POP1	10940	broad.mit.edu	37	8	99149090	99149090	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:99149090G>A	uc003yij.3	+	9	1370	c.1270G>A	c.(1270-1272)GAT>AAT	p.D424N	POP1_uc011lgv.1_Missense_Mutation_p.D424N|POP1_uc003yik.2_Missense_Mutation_p.D424N	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	424					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)			CTTTTTCAGCGATTTGACGAT	0.423000												
POP1	10940	broad.mit.edu	37	8	99149097	99149097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:99149097C>T	uc003yij.3	+	9	1377	c.1277C>T	c.(1276-1278)ACG>ATG	p.T426M	POP1_uc011lgv.1_Missense_Mutation_p.T426M|POP1_uc003yik.2_Missense_Mutation_p.T426M	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	426					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)			AGCGATTTGACGATGGAGATG	0.413000												
KCNS2	3788	broad.mit.edu	37	8	99441361	99441361	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:99441361C>T	uc003yin.2	+	2	1504	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	385	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCAGGGACCACGGCAGGAAAG	0.597000												
UBR5	51366	broad.mit.edu	37	8	103297394	103297394	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:103297394G>A	uc003ykr.1	-	40	5690	c.5657C>T	c.(5656-5658)GCG>GTG	p.A1886V	UBR5_uc003yks.1_Missense_Mutation_p.A1886V	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1886					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCTTCTCGCGCAGTCATCCT	0.403000												
DCAF13	25879	broad.mit.edu	37	8	104432678	104432678	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:104432678C>T	uc003yln.2	+	2	990	c.713C>T	c.(712-714)GCG>GTG	p.A238V	DCAF13_uc003ylm.1_Intron|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	86	WD 1.			A -> S (in Ref. 3; AAH26067).	rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						CTTTCTGGGGCGTGTGATGGA	0.403000												
OXR1	55074	broad.mit.edu	37	8	107758067	107758067	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:107758067T>C	uc011lht.1	+	15	2565	c.2466T>C	c.(2464-2466)GAT>GAC	p.D822D	OXR1_uc003ymf.2_Silent_p.D794D|OXR1_uc011lhu.1_Silent_p.D787D|OXR1_uc010mcg.2_RNA|OXR1_uc010mch.2_Silent_p.D450D|OXR1_uc003ymk.2_Silent_p.D191D|OXR1_uc003yml.2_Silent_p.D164D	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	822	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GAGACATGGATTCACTAGCTT	0.279000												
WDR67	93594	broad.mit.edu	37	8	124140619	124140619	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:124140619C>T	uc003ypp.1	+	14	2073	c.1983C>T	c.(1981-1983)AGC>AGT	p.S661S	WDR67_uc011lig.1_Silent_p.S661S|WDR67_uc011lih.1_Silent_p.S551S|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Silent_p.S118S|WDR67_uc003ypu.1_Silent_p.S118S	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	661						centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ATCCAGACAGCATGCTTAATG	0.363000												
RNF139	11236	broad.mit.edu	37	8	125498442	125498442	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:125498442G>A	uc003yrc.2	+	2	895	c.552G>A	c.(550-552)TTG>TTA	p.L184L		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	184	Helical; (Potential).				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTCTTCCTTGATTCTCACAT	0.353000									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			
KIAA0196	9897	broad.mit.edu	37	8	126051080	126051080	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:126051080G>A	uc003yrt.2	-	25	3405	c.3076C>T	c.(3076-3078)CTG>TTG	p.L1026L	KIAA0196_uc011lir.1_Silent_p.L878L|KIAA0196_uc003yru.1_Silent_p.L600L	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	1026					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ACCTTATTCAGTGGGTTGTGA	0.438000												
MYC	4609	broad.mit.edu	37	8	128753090	128753090	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:128753090C>T	uc003ysi.2	+	3	1776	c.1251C>T	c.(1249-1251)TAC>TAT	p.Y417Y		NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	402	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		CCACAGCATACATCCTGTCCG	0.468000		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL							
ADCY8	114	broad.mit.edu	37	8	131792892	131792892	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:131792892G>A	uc003ytd.3	-	18	3756	c.3500C>T	c.(3499-3501)ACG>ATG	p.T1167M	ADCY8_uc010mds.2_Missense_Mutation_p.T1036M	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1167	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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGAAAGTACGTTTTGATTTT	0.517000										HNSCC(32;0.087)		
KCNK9	51305	broad.mit.edu	37	8	140630719	140630719	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:140630719G>A	uc003yvf.1	-	2	971	c.907C>T	c.(907-909)CGC>TGC	p.R303C	KCNK9_uc003yvg.1_Missense_Mutation_p.R303C|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	303	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCCTGCGAGCGGTAGCAGGTG	0.637000												
EIF2C2	27161	broad.mit.edu	37	8	141542570	141542570	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:141542570C>T	uc003yvn.2	-	18	2456	c.2416G>A	c.(2416-2418)GCT>ACT	p.A806T	EIF2C2_uc010men.2_Missense_Mutation_p.A729T|EIF2C2_uc010meo.2_Missense_Mutation_p.A772T	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	806	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			ACCAGGTGAGCGTAGTATGCT	0.587000												
TSNARE1	203062	broad.mit.edu	37	8	143427220	143427220	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:143427220C>T	uc003ywk.2	-	3	240	c.122G>A	c.(121-123)CGC>CAC	p.R41H	TSNARE1_uc011lju.1_Missense_Mutation_p.R41H|TSNARE1_uc003ywj.2_Missense_Mutation_p.R41H|TSNARE1_uc003ywl.3_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	41					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGGAAATGGCGGATTCCATA	0.622000												
CYP11B1	1584	broad.mit.edu	37	8	143961145	143961145	+	Missense_Mutation	SNP	C	C	T	rs144224988	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:143961145C>T	uc003yxi.2	-	1	92	c.85G>A	c.(85-87)GCC>ACC	p.A29T	CYP11B1_uc003yxj.2_Missense_Mutation_p.A29T|CYP11B1_uc010mey.2_Missense_Mutation_p.A29T	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	29					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGACCCGGGCGGCTCTCGTG	0.642000									Familial_Hyperaldosteronism_type_I			
ZC3H3	23144	broad.mit.edu	37	8	144621326	144621326	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:144621326G>A	uc003yyd.2	-	2	240	c.211C>T	c.(211-213)CGC>TGC	p.R71C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	71					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TATTTCTTGCGCCACGAAGGC	0.677000												
C8orf73	642475	broad.mit.edu	37	8	144652140	144652140	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:144652140G>T	uc010mff.2	-	7	1183	c.1139C>A	c.(1138-1140)GCT>GAT	p.A380D	C8orf73_uc010mfg.1_Silent_p.G392G	NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	hypothetical protein LOC642475	380	Leu-rich.						binding			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAGGCCATAGCCGTGAGACG	0.662000												
EPPK1	83481	broad.mit.edu	37	8	144946637	144946637	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:144946637C>T	uc003zaa.1	-	1	798	c.785G>A	c.(784-786)CGG>CAG	p.R262Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	262						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGCCCTCCCGCAGACCCTG	0.697000												
PLEC	5339	broad.mit.edu	37	8	144996013	144996013	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:144996013T>C	uc003zaf.1	-	32	8557	c.8387A>G	c.(8386-8388)CAG>CGG	p.Q2796R	PLEC_uc003zab.1_Missense_Mutation_p.Q2659R|PLEC_uc003zac.1_Missense_Mutation_p.Q2663R|PLEC_uc003zad.2_Missense_Mutation_p.Q2659R|PLEC_uc003zae.1_Missense_Mutation_p.Q2627R|PLEC_uc003zag.1_Missense_Mutation_p.Q2637R|PLEC_uc003zah.2_Missense_Mutation_p.Q2645R|PLEC_uc003zaj.2_Missense_Mutation_p.Q2686R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2796	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCGGCCTCCTGCAGCCTCTG	0.692000												
OPLAH	26873	broad.mit.edu	37	8	145113480	145113480	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:145113480C>T	uc003zar.3	-	6	784	c.702G>A	c.(700-702)ACG>ACA	p.T234T	OPLAH_uc003zat.1_Silent_p.T12T	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	234							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGGCACAGGCCGTGTGCCCCC	0.687000												
ADCK5	203054	broad.mit.edu	37	8	145617856	145617856	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:145617856C>T	uc003zch.2	+	13	1518	c.1464C>T	c.(1462-1464)CGC>CGT	p.R488R	ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_Silent_p.R77R	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	488						integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACACCGTGCGCGCTATCAACG	0.692000												
ARHGAP39	80728	broad.mit.edu	37	8	145771183	145771183	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:145771183G>A	uc003zdt.1	-	7	2526	c.1971C>T	c.(1969-1971)CTC>CTT	p.L657L	ARHGAP39_uc011llk.1_Silent_p.L657L|ARHGAP39_uc003zds.1_Silent_p.L657L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	657					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CACAGGCAGCGAGGTCCTCAG	0.677000												
KANK1	23189	broad.mit.edu	37	9	742244	742244	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:742244C>T	uc003zgl.1	+	14	4385	c.3736C>T	c.(3736-3738)CGG>TGG	p.R1246W	KANK1_uc003zgn.1_Missense_Mutation_p.R1246W|KANK1_uc003zgs.1_Missense_Mutation_p.R1088W|KANK1_uc010mgx.1_Missense_Mutation_p.R224W|KANK1_uc010mgy.1_Missense_Mutation_p.R158W|KANK1_uc003zgt.1_Missense_Mutation_p.R158W	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	1246	ANK 3.				negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGTCACGGACGGATAGACAT	0.597000												
VLDLR	7436	broad.mit.edu	37	9	2650419	2650419	+	Silent	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:2650419A>G	uc003zhk.1	+	15	2551	c.2154A>G	c.(2152-2154)CTA>CTG	p.L718L	VLDLR_uc003zhl.1_Silent_p.L718L|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.L677L	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	718	Extracellular (Potential).|EGF-like 3.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GTGAATACCTATGCCTGCCAG	0.413000												
UHRF2	115426	broad.mit.edu	37	9	6498129	6498129	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:6498129C>T	uc003zjy.2	+	12	2219	c.1879C>T	c.(1879-1881)CGG>TGG	p.R627W	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zkb.2_RNA	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	627	Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AGGAATAGAACGGTCAAGGAG	0.408000												
PTPRD	5789	broad.mit.edu	37	9	8504278	8504278	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:8504278G>A	uc003zkk.2	-	22	2516	c.1805C>T	c.(1804-1806)GCT>GTT	p.A602V	PTPRD_uc003zkp.2_Missense_Mutation_p.A602V|PTPRD_uc003zkq.2_Missense_Mutation_p.A602V|PTPRD_uc003zkr.2_Missense_Mutation_p.A596V|PTPRD_uc003zks.2_Missense_Mutation_p.A592V|PTPRD_uc003zkl.2_Missense_Mutation_p.A602V|PTPRD_uc003zkm.2_Missense_Mutation_p.A589V|PTPRD_uc003zkn.2_Missense_Mutation_p.A602V|PTPRD_uc003zko.2_Missense_Mutation_p.A599V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	602	Fibronectin type-III 3.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CATGGTTCTAGCTGATATTTC	0.458000										TSP Lung(15;0.13)		
MPDZ	8777	broad.mit.edu	37	9	13221386	13221386	+	Silent	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:13221386T>C	uc010mia.1	-	6	918	c.861A>G	c.(859-861)GGA>GGG	p.G287G	MPDZ_uc010mhy.2_Silent_p.G287G|MPDZ_uc010mhz.2_Silent_p.G287G|MPDZ_uc011lmn.1_Silent_p.G287G|MPDZ_uc003zlb.3_Silent_p.G287G	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	287	PDZ 2.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		CAGCTACTCCTCCAGGCAGAA	0.363000												
ADAMTSL1	92949	broad.mit.edu	37	9	18795510	18795510	+	Missense_Mutation	SNP	G	G	A	rs77886371	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:18795510G>A	uc003zne.3	+	20	3920	c.3793G>A	c.(3793-3795)GTC>ATC	p.V1265I		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1265	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCCATTGCCGTCACATTAGC	0.323000												
UNC13B	10497	broad.mit.edu	37	9	35400423	35400423	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:35400423G>A	uc003zwq.2	+	36	4512	c.4220G>A	c.(4219-4221)CGC>CAC	p.R1407H	UNC13B_uc003zwr.2_Missense_Mutation_p.R1407H	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1407					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)			ACCTTTGTGCGCTCGCAGACC	0.522000												
CA9	768	broad.mit.edu	37	9	35674217	35674217	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:35674217G>T	uc003zxo.3	+	1	303	c.261G>T	c.(259-261)GAG>GAT	p.E87D	C9orf100_uc003zxl.2_RNA|CA9_uc003zxp.3_Missense_Mutation_p.E87D	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	87	Extracellular.|Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGAGAGGAGGATCTACCTG	0.547000												
TLN1	7094	broad.mit.edu	37	9	35704763	35704763	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:35704763G>A	uc003zxt.2	-	44	6137	c.5783C>T	c.(5782-5784)GCC>GTC	p.A1928V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1928	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACCAGAGCGGCACAGCCATG	0.572000												
ZCCHC7	84186	broad.mit.edu	37	9	37349416	37349416	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:37349416C>T	uc003zzq.2	+	7	1223	c.1050C>T	c.(1048-1050)TGC>TGT	p.C350C	ZCCHC7_uc011lqh.1_Silent_p.C60C|ZCCHC7_uc011lqi.1_Silent_p.C349C|ZCCHC7_uc010mlt.2_Silent_p.C349C	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	350	CCHC-type 4.						nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		TAGCATATTGCTATCACTGCG	0.443000												
TJP2	9414	broad.mit.edu	37	9	71831355	71831355	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:71831355G>A	uc004ahe.2	+	3	415	c.215G>A	c.(214-216)GGT>GAT	p.G72D	TJP2_uc011lrs.1_Missense_Mutation_p.G49D|TJP2_uc004ahb.1_Missense_Mutation_p.G49D|TJP2_uc011lrt.1_Missense_Mutation_p.G49D|TJP2_uc004ahd.2_Missense_Mutation_p.G72D|TJP2_uc004ahf.2_Missense_Mutation_p.G72D|TJP2_uc011lru.1_Missense_Mutation_p.G76D|TJP2_uc011lrv.1_Missense_Mutation_p.G94D	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	72	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GTGCTCCCGGGTGGGCCTGCT	0.552000												
TMEM2	23670	broad.mit.edu	37	9	74319544	74319544	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:74319544C>T	uc011lsa.1	-	18	3701	c.3161G>A	c.(3160-3162)CGG>CAG	p.R1054Q	TMEM2_uc011lrz.1_Missense_Mutation_p.R47Q|TMEM2_uc010mos.2_Missense_Mutation_p.R991Q|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1054						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)		AAATGTAGTCCGTGGTGCCGG	0.433000												
TRPM6	140803	broad.mit.edu	37	9	77397640	77397640	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:77397640G>A	uc004ajl.1	-	22	3287	c.3049C>T	c.(3049-3051)CCA>TCA	p.P1017S	TRPM6_uc004ajk.1_Missense_Mutation_p.P1012S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.P303S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1017					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						ATCCAGTATGGCTCAAATACA	0.458000												
TRPM6	140803	broad.mit.edu	37	9	77416834	77416834	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:77416834T>G	uc004ajl.1	-	16	2227	c.1989A>C	c.(1987-1989)GAA>GAC	p.E663D	TRPM6_uc004ajk.1_Missense_Mutation_p.E658D|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.E41D	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	663	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						TCTTCAACTCTTCTGAGGCAT	0.428000												
PCSK5	5125	broad.mit.edu	37	9	78506228	78506228	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:78506228C>A	uc004ajz.2	+	1	669	c.131C>A	c.(130-132)GCC>GAC	p.A44D	PCSK5_uc004ajy.2_Missense_Mutation_p.A44D|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	44					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						GTCAAAATCGCCGGGGGCTTC	0.632000												
PRUNE2	158471	broad.mit.edu	37	9	79322909	79322909	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:79322909T>G	uc010mpk.2	-	8	4405	c.4281A>C	c.(4279-4281)AAA>AAC	p.K1427N		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1427					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CATGGGTATCTTTTGGCTGCA	0.428000												
VPS13A	23230	broad.mit.edu	37	9	79954754	79954754	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:79954754G>A	uc004akr.2	+	48	6961	c.6701G>A	c.(6700-6702)CGA>CAA	p.R2234Q	VPS13A_uc004akp.3_Missense_Mutation_p.R2234Q|VPS13A_uc004akq.3_Missense_Mutation_p.R2234Q|VPS13A_uc004aks.2_Missense_Mutation_p.R2195Q	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2234					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GGAATTCATCGAAAGCATCCA	0.363000												
GAS1	2619	broad.mit.edu	37	9	89561072	89561072	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:89561072T>C	uc004aox.3	-	1	1033	c.623A>G	c.(622-624)GAG>GGG	p.E208G	uc004aoy.2_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	growth arrest-specific 1 precursor	208					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane					0						CAGCATGTCCTCAATGACGGT	0.657000												
PTCH1	5727	broad.mit.edu	37	9	98229519	98229519	+	Silent	SNP	C	C	T	rs151266988		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:98229519C>T	uc004avk.3	-	15	2627	c.2439G>A	c.(2437-2439)CCG>CCA	p.P813P	PTCH1_uc010mro.2_Silent_p.P662P|PTCH1_uc010mrp.2_Silent_p.P662P|PTCH1_uc010mrq.2_Silent_p.P662P|PTCH1_uc004avl.3_Silent_p.P662P|PTCH1_uc010mrr.2_Silent_p.P747P|PTCH1_uc004avm.3_Silent_p.P812P	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	813	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.N814fs*16(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTGGATATTCGGGTAGTCTG	0.398000									Basal_Cell_Nevus_syndrome			
FOXE1	2304	broad.mit.edu	37	9	100616467	100616467	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:100616467C>T	uc004axu.2	+	1	931	c.271C>T	c.(271-273)CGC>TGC	p.R91C		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	91	Fork-head.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Acute lymphoblastic leukemia(62;0.158)				CCCCTTCTACCGCGACAACCC	0.647000												
STX17	55014	broad.mit.edu	37	9	102677556	102677556	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:102677556G>A	uc004bal.3	+	2	171	c.35G>A	c.(34-36)CGT>CAT	p.R12H	STX17_uc004bak.2_Missense_Mutation_p.R12H|STX17_uc010msx.2_RNA|STX17_uc011lvd.1_RNA	NM_017919	NP_060389	P56962	STX17_HUMAN	syntaxin 17	12	Cytoplasmic (Potential).				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			large_intestine(1)	1		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AAATTACGCCGTCTTGAACCA	0.378000												
ACTL7B	10880	broad.mit.edu	37	9	111617781	111617781	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:111617781C>T	uc004bdi.2	-	1	495	c.430G>A	c.(430-432)GAG>AAG	p.E144K		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	144						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						ACAGCGTGCTCCTCGGGGAGG	0.627000												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705242	112705242	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:112705242A>G	uc004bei.2	+	7	965	c.773A>G	c.(772-774)GAT>GGT	p.D258G	PALM2_uc004bef.2_Missense_Mutation_p.D260G|PALM2_uc004beg.2_Missense_Mutation_p.D226G|PALM2_uc004beh.3_Missense_Mutation_p.D258G|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	520							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						GTGATTGCAGATGGGAGCCTC	0.473000												
TXNDC8	255220	broad.mit.edu	37	9	113088522	113088522	+	Splice_Site	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:113088522T>C	uc004bes.2	-	4	239	c.190_splice	c.e4-1	p.E64_splice	TXNDC8_uc011lwl.1_Splice_Site_p.E44_splice	NM_001003936	NP_001003936	Q6A555	TXND8_HUMAN	thioredoxin domain containing 8						cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity				0						AGCCAGCTCCTGGGAAAGCAA	0.418000												
TNC	3371	broad.mit.edu	37	9	117849343	117849343	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:117849343T>G	uc004bjj.3	-	3	1029	c.667A>C	c.(667-669)AGC>CGC	p.S223R	TNC_uc010mvf.2_Missense_Mutation_p.S223R	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	223	EGF-like 3.				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						TTGCAGTCGCTGGGGCAAGCC	0.607000												
PAPPA	5069	broad.mit.edu	37	9	119115183	119115183	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:119115183G>A	uc004bjn.2	+	16	4544	c.4163G>A	c.(4162-4164)CGG>CAG	p.R1388Q	PAPPA_uc011lxq.1_Missense_Mutation_p.R763Q	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1388	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GGATCCTCTCGGAAGTCAAAG	0.507000												
ASTN2	23245	broad.mit.edu	37	9	119582954	119582954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:119582954G>A	uc004bjs.1	-	12	2250	c.2149C>T	c.(2149-2151)CAG>TAG	p.Q717*	ASTN2_uc004bjr.1_Nonsense_Mutation_p.Q713*|ASTN2_uc004bjt.1_Nonsense_Mutation_p.Q666*	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	717	Extracellular (Potential).|EGF-like 3.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						AGCGTCTGCTGCAGGCACAGC	0.577000												
C5	727	broad.mit.edu	37	9	123725021	123725021	+	Missense_Mutation	SNP	G	G	A	rs138933092		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:123725021G>A	uc004bkv.2	-	36	4462	c.4432C>T	c.(4432-4434)CGG>TGG	p.R1478W		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1478					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCAAATATCCGGAATCGTACA	0.373000												
PBX3	5090	broad.mit.edu	37	9	128725316	128725316	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:128725316A>G	uc004bqb.2	+	8	1264	c.1148A>G	c.(1147-1149)AAT>AGT	p.N383S	PBX3_uc004bqc.2_Missense_Mutation_p.N202S|PBX3_uc004bqd.2_Silent_p.Q164Q|PBX3_uc011lzw.1_Missense_Mutation_p.N308S|PBX3_uc011lzx.1_Silent_p.Q256Q|PBX3_uc004bqe.2_Missense_Mutation_p.N291S	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	383					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						CATGTTATCAATCAGACGGGA	0.403000												
STXBP1	6812	broad.mit.edu	37	9	130442513	130442513	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:130442513C>T	uc004brl.2	+	17	1736	c.1539C>T	c.(1537-1539)ACC>ACT	p.T513T	STXBP1_uc004brk.2_Silent_p.T513T	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	513					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1						TCAGCACCACCGCCGTCAGGT	0.507000												
ODF2	4957	broad.mit.edu	37	9	131221884	131221884	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:131221884C>T	uc011mbd.1	+	3	382	c.71C>T	c.(70-72)ACG>ATG	p.T24M	ODF2_uc011maz.1_Missense_Mutation_p.T24M|ODF2_uc011mba.1_Translation_Start_Site|ODF2_uc010myb.2_Translation_Start_Site|ODF2_uc011mbb.1_Translation_Start_Site|ODF2_uc011mbc.1_Translation_Start_Site|ODF2_uc004bva.2_Translation_Start_Site|ODF2_uc004bvb.2_Translation_Start_Site|ODF2_uc011mbe.1_Translation_Start_Site|ODF2_uc004bvc.2_Translation_Start_Site|ODF2_uc010myc.2_Missense_Mutation_p.T24M|ODF2_uc011mbf.1_Missense_Mutation_p.T24M|ODF2_uc004bvd.3_Missense_Mutation_p.T24M|ODF2_uc004bve.2_Missense_Mutation_p.T24M	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	24					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						ACGAGTCTCACGCAGAAAAAG	0.488000												
SPTAN1	6709	broad.mit.edu	37	9	131346661	131346661	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:131346661G>A	uc004bvl.3	+	17	2407	c.2294G>A	c.(2293-2295)CGC>CAC	p.R765H	SPTAN1_uc011mbg.1_Missense_Mutation_p.R765H|SPTAN1_uc011mbh.1_Missense_Mutation_p.R777H|SPTAN1_uc004bvm.3_Missense_Mutation_p.R765H|SPTAN1_uc004bvn.3_Missense_Mutation_p.R765H	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	765	Spectrin 8.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CTCGTGGCTCGCTATGAGGCA	0.552000												
NUP188	23511	broad.mit.edu	37	9	131735455	131735455	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:131735455C>T	uc004bws.1	+	12	1152	c.1130C>T	c.(1129-1131)GCA>GTA	p.A377V		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	377					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						ACCAGCACTGCATGCATGTGT	0.483000												
EXOSC2	23404	broad.mit.edu	37	9	133577549	133577549	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:133577549C>T	uc004bzu.2	+	7	545	c.524C>T	c.(523-525)TCC>TTC	p.S175F	EXOSC2_uc011mbz.1_Missense_Mutation_p.S149F|EXOSC2_uc011mca.1_RNA	NM_014285	NP_055100	Q13868	EXOS2_HUMAN	exosome component 2	175					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		GTCCAGGTTTCCCCCTCCCTG	0.473000												
FIBCD1	84929	broad.mit.edu	37	9	133780645	133780645	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:133780645C>T	uc004bzz.2	-	6	1347	c.1102G>A	c.(1102-1104)GTG>ATG	p.V368M	FIBCD1_uc011mcc.1_Missense_Mutation_p.V368M	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	368	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TAGTCAGCCACGGTGAGCGGG	0.662000												
FIBCD1	84929	broad.mit.edu	37	9	133799212	133799212	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:133799212G>A	uc004bzz.2	-	4	1013	c.768C>T	c.(766-768)GGC>GGT	p.G256G	FIBCD1_uc011mcc.1_Silent_p.G256G	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	256	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CAGAGTAGACGCCATCGTCCT	0.672000												
NTNG2	84628	broad.mit.edu	37	9	135114577	135114577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:135114577C>T	uc004cbh.2	+	6	1917	c.1141C>T	c.(1141-1143)CGA>TGA	p.R381*		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	381	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCACAACACGCGAGGTCAGCA	0.607000												
TMEM8C	389827	broad.mit.edu	37	9	136385331	136385331	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:136385331T>C	uc011mdk.1	-	2	215	c.215A>G	c.(214-216)TAC>TGC	p.Y72C		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	72	Helical; (Potential).					integral to membrane					0						GGCTGTCCCGTAGACACTGAA	0.597000												
OLFM1	10439	broad.mit.edu	37	9	137998700	137998700	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:137998700G>A	uc010nar.2	+	5	1098	c.782G>A	c.(781-783)CGG>CAG	p.R261Q	OLFM1_uc004cfl.3_Missense_Mutation_p.R243Q|OLFM1_uc004cfn.3_Missense_Mutation_p.R12Q	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	261	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GGCGATAACCGGGTGAGTGTC	0.622000												
CARD9	64170	broad.mit.edu	37	9	139266495	139266495	+	Silent	SNP	G	G	A	rs112268470		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:139266495G>A	uc004chg.3	-	2	202	c.36C>T	c.(34-36)AGC>AGT	p.S12S	CARD9_uc011mdw.1_Silent_p.S12S|CARD9_uc011mdx.1_Intron|CARD9_uc010nbj.2_Silent_p.S12S	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	12	CARD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CCTCCAGGACGCTCCAGCACT	0.647000												
SNAPC4	6621	broad.mit.edu	37	9	139276353	139276353	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:139276353G>A	uc004chh.2	-	17	2249	c.2240C>T	c.(2239-2241)GCT>GTT	p.A747V		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	747					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGGGGTCACAGCCAGCAGCAG	0.662000												
ABCA2	20	broad.mit.edu	37	9	139910575	139910575	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:139910575G>A	uc011mem.1	-	21	3301	c.3153C>T	c.(3151-3153)TAC>TAT	p.Y1051Y	ABCA2_uc011mel.1_Silent_p.Y1052Y|ABCA2_uc004ckl.1_Silent_p.Y982Y|ABCA2_uc004ckm.1_Silent_p.Y1082Y|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1051	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGTCGTGCCCGTAGATGGTGG	0.647000												
ZMYND19	116225	broad.mit.edu	37	9	140477041	140477041	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:140477041C>T	uc004cno.1	-	6	860	c.638G>A	c.(637-639)CGG>CAG	p.R213Q		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	213						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CTTCCTCTCCCGACAGTGCTT	0.652000												
EHMT1	79813	broad.mit.edu	37	9	140638449	140638449	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:140638449C>T	uc011mfc.1	+	6	1114	c.1077C>T	c.(1075-1077)GAC>GAT	p.D359D	EHMT1_uc004coa.2_Silent_p.D359D|EHMT1_uc004cob.1_Silent_p.D328D	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	359					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCGAGGAGGACGACGGCCATG	0.637000												
ZBED1	9189	broad.mit.edu	37	X	2406919	2406919	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:2406919C>T	uc004cqg.2	-	2	2043	c.1842G>A	c.(1840-1842)ACG>ACA	p.T614T	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.T614T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	614						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase 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)				GGGCGACGCGCGTGGCCGTCA	0.662000												
ARSE	415	broad.mit.edu	37	X	2873550	2873550	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:2873550C>T	uc004crc.3	-	4	464	c.214G>A	c.(214-216)GAC>AAC	p.D72N	ARSE_uc011mhi.1_Missense_Mutation_p.D18N|ARSE_uc011mhh.1_Missense_Mutation_p.D97N	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	72					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	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)				TTCACGCCGTCCTCTGCAAGG	0.502000												
MXRA5	25878	broad.mit.edu	37	X	3248157	3248157	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:3248157C>T	uc004crg.3	-	4	768	c.611G>A	c.(610-612)CGG>CAG	p.R204Q		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	204	LRR 6.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGGCATGTTCCGAAGCATGCT	0.458000												
MXRA5	25878	broad.mit.edu	37	X	3261860	3261860	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:3261860C>T	uc004crg.3	-	2	172	c.15G>A	c.(13-15)GCG>GCA	p.A5A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	5						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCCCCAGTGCGCGCGCTTGG	0.627000												
SHROOM2	357	broad.mit.edu	37	X	9864477	9864477	+	Silent	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:9864477G>T	uc004csu.1	+	4	2619	c.2529G>T	c.(2527-2529)TCG>TCT	p.S843S		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	843					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			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				AGCCCTGGTCGCGCACCACCT	0.657000												
CNKSR2	22866	broad.mit.edu	37	X	21545078	21545078	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:21545078C>T	uc004czx.1	+	10	1087	c.1051C>T	c.(1051-1053)CTC>TTC	p.L351F	CNKSR2_uc004czw.2_Missense_Mutation_p.L351F|CNKSR2_uc011mjn.1_Missense_Mutation_p.L302F|CNKSR2_uc011mjo.1_Missense_Mutation_p.L351F|CNKSR2_uc004czy.2_5'UTR	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	351	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						CCTCCAGGATCTCTACATTCC	0.483000												
EIF2S3	1968	broad.mit.edu	37	X	24086182	24086182	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:24086182G>A	uc004dbc.2	+	9	990	c.969G>A	c.(967-969)GCG>GCA	p.A323A		NM_001415	NP_001406	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2,	323						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			lung(1)	1						CACTTTTTGCGGAGCATAATG	0.378000												
MAGEB2	4113	broad.mit.edu	37	X	30236810	30236810	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:30236810C>A	uc004dbz.2	+	2	216	c.113C>A	c.(112-114)GCC>GAC	p.A38D		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	38							protein binding			ovary(1)	1						GAAGAAGAGGCCCCCTGCTGT	0.602000												
TSPAN7	7102	broad.mit.edu	37	X	38540530	38540530	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:38540530G>A	uc004deg.3	+	6	739	c.670G>A	c.(670-672)GCA>ACA	p.A224T	TSPAN7_uc011mkj.1_Missense_Mutation_p.A250T|TSPAN7_uc011mkk.1_Missense_Mutation_p.A241T|TSPAN7_uc004deh.2_Missense_Mutation_p.A132T	NM_004615	NP_004606	P41732	TSN7_HUMAN	tetraspanin 7	224	Helical; (Potential).				interspecies interaction between organisms	integral to plasma membrane				ovary(1)	1						GTTTGGAATCGCATTCTCCCA	0.498000												
DUSP21	63904	broad.mit.edu	37	X	44703614	44703614	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:44703614C>T	uc004dgd.2	+	1	366	c.236C>T	c.(235-237)TCG>TTG	p.S79L		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	79	Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity).					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2						GCTCGTGACTCGCGTCTCTAC	0.527000												
UBA1	7317	broad.mit.edu	37	X	47061595	47061595	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:47061595C>T	uc004dhj.3	+	9	1003	c.852C>T	c.(850-852)TCC>TCT	p.S284S	UBA1_uc004dhk.3_Silent_p.S284S|INE1_uc004dhl.2_5'Flank	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	284	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1						CCAACTTCTCCGACTACATCC	0.507000												
ZNF157	7712	broad.mit.edu	37	X	47272407	47272407	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:47272407G>A	uc004dhr.1	+	4	1004	c.935G>A	c.(934-936)CGT>CAT	p.R312H		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	312	C2H2-type 6.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AAAAACTTCCGTGCAAAGAAA	0.428000												
KDM5C	8242	broad.mit.edu	37	X	53231066	53231066	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:53231066G>A	uc004drz.2	-	13	2369	c.1836C>T	c.(1834-1836)GCC>GCT	p.A612A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.A545A|KDM5C_uc004dsa.2_Silent_p.A611A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	612	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						TGACAGCCTCGGCAAAGTTGT	0.547000			N|F|S		clear cell renal carcinoma							
SMC1A	8243	broad.mit.edu	37	X	53436052	53436052	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:53436052G>A	uc004dsg.2	-	9	1555	c.1486C>T	c.(1486-1488)CGC>TGC	p.R496C	SMC1A_uc011moe.1_Missense_Mutation_p.R474C|SMC1A_uc011mof.1_Missense_Mutation_p.R262C	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	496	Potential.		R -> C (in CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins).|R -> H (in CDLS2; affects the affinity of SMC hinge dimers for DNA; mutated hinge dimers bind DNA with higher affinity than wild-type proteins).		cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						CGCTGCTGGCGGCTGCTCTCC	0.512000												
FGD1	2245	broad.mit.edu	37	X	54496509	54496509	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:54496509C>T	uc004dtg.2	-	4	1775	c.1041G>A	c.(1039-1041)GAG>GAA	p.E347E	FGD1_uc011moi.1_Silent_p.E105E	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	347					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						tctcttcctcctcctcctcgt	0.498000												
ARHGEF9	23229	broad.mit.edu	37	X	62893977	62893977	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:62893977G>A	uc004dvl.2	-	6	1704	c.865C>T	c.(865-867)CGA>TGA	p.R289*	ARHGEF9_uc004dvj.1_Nonsense_Mutation_p.R178*|ARHGEF9_uc004dvk.1_Nonsense_Mutation_p.R151*|ARHGEF9_uc011mos.1_Nonsense_Mutation_p.R268*|ARHGEF9_uc004dvm.1_Nonsense_Mutation_p.R268*|ARHGEF9_uc011mot.1_Nonsense_Mutation_p.R236*|ARHGEF9_uc004dvn.2_Nonsense_Mutation_p.R296*	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	289					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						TCTAAACGTCGCTTGCGTTCG	0.458000												
TAF1	6872	broad.mit.edu	37	X	70683799	70683799	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:70683799C>T	uc004dzu.3	+	38	5573	c.5522C>T	c.(5521-5523)CCG>CTG	p.P1841L	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.P1862L|TAF1_uc004dzv.3_Missense_Mutation_p.P1049L|TAF1_uc010nle.1_Intron|TAF1_uc010nlf.1_Intron|TAF1_uc004dzx.2_Intron|TAF1_uc004dzy.2_Intron|TAF1_uc004dzw.1_Intron|TAF1_uc010nlg.1_Intron	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1841	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				CGCTCTGGGCCGAGCGTACTA	0.468000												
RGAG4	340526	broad.mit.edu	37	X	71350736	71350736	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:71350736G>A	uc010nlh.1	-	1	1016	c.655C>T	c.(655-657)CGC>TGC	p.R219C	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	219										ovary(2)|skin(1)	3	Renal(35;0.156)					TCCAGGAAGCGCGGGAAGTTG	0.587000												
PHKA1	5255	broad.mit.edu	37	X	71813030	71813030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:71813030C>T	uc004eax.3	-	29	3468	c.3167G>A	c.(3166-3168)CGC>CAC	p.R1056H	PHKA1_uc004eay.3_Missense_Mutation_p.R1043H|PHKA1_uc011mqi.1_Missense_Mutation_p.R984H|PHKA1_uc010nll.2_Missense_Mutation_p.R88H	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1056	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					CCTTCTTCGGCGTTGCCATTG	0.438000												
BRWD3	254065	broad.mit.edu	37	X	79951476	79951476	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:79951476G>A	uc004edt.2	-	27	3345	c.3082C>T	c.(3082-3084)CCG>TCG	p.P1028S	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.P624S|BRWD3_uc004edp.2_Missense_Mutation_p.P857S|BRWD3_uc004edq.2_Missense_Mutation_p.P624S|BRWD3_uc010nmj.1_Missense_Mutation_p.P624S|BRWD3_uc004edr.2_Missense_Mutation_p.P698S|BRWD3_uc004eds.2_Missense_Mutation_p.P624S|BRWD3_uc004edu.2_Missense_Mutation_p.P698S|BRWD3_uc004edv.2_Missense_Mutation_p.P624S|BRWD3_uc004edw.2_Missense_Mutation_p.P624S|BRWD3_uc004edx.2_Missense_Mutation_p.P624S|BRWD3_uc004edy.2_Missense_Mutation_p.P624S|BRWD3_uc004edz.2_Missense_Mutation_p.P698S|BRWD3_uc004eea.2_Missense_Mutation_p.P698S|BRWD3_uc004eeb.2_Missense_Mutation_p.P624S	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1028										ovary(4)	4						ATGACATCCGGCATGTCATGA	0.299000												
GPRASP1	9737	broad.mit.edu	37	X	101912464	101912464	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:101912464C>T	uc004ejj.3	+	5	4424	c.3623C>T	c.(3622-3624)CCG>CTG	p.P1208L	GPRASP1_uc004eji.3_Missense_Mutation_p.P1208L|GPRASP1_uc010nod.2_Missense_Mutation_p.P1208L	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1208	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CTTAATTATCCGTCCTCCCGA	0.378000												
PLP1	5354	broad.mit.edu	37	X	103031929	103031929	+	Splice_Site	SNP	T	T	C	rs113104205		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:103031929T>C	uc010nov.2	+	2	284	c.4_splice	c.e2+2	p.G2_splice	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Splice_Site_p.G2_splice|PLP1_uc004elj.2_Splice_Site_p.G2_splice|PLP1_uc011msf.1_Splice_Site_p.D2_splice	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1						cell death|synaptic transmission	integral to membrane				ovary(1)	1						AAGACATGGGTAAGTTTCAAA	0.468000												
PRPS1	5631	broad.mit.edu	37	X	106888486	106888486	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:106888486C>T	uc004ene.3	+	5	815	c.610C>T	c.(610-612)CGC>TGC	p.R204C	PRPS1_uc010npg.2_Missense_Mutation_p.R171C|PRPS1_uc011msj.1_5'UTR	NM_002764	NP_002755	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	204					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|large_intestine(1)	4						TGAAGTGGACCGCATGGTGCT	0.507000												
IRS4	8471	broad.mit.edu	37	X	107978366	107978366	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:107978366G>A	uc004eoc.2	-	1	1242	c.1209C>T	c.(1207-1209)AGC>AGT	p.S403S		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	403						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CCACAGGCTCGCTGGGTGTTA	0.622000												
RGAG1	57529	broad.mit.edu	37	X	109697463	109697463	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:109697463G>T	uc004eor.1	+	3	3864	c.3618G>T	c.(3616-3618)GAG>GAT	p.E1206D	RGAG1_uc011msr.1_Missense_Mutation_p.E1206D	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1206										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TGCAAATGGAGGTAGGAGAAC	0.438000												
AMOT	154796	broad.mit.edu	37	X	112054602	112054602	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:112054602C>T	uc004epr.2	-	3	1412	c.1412G>A	c.(1411-1413)CGC>CAC	p.R471H	AMOT_uc004eps.2_Missense_Mutation_p.R62H|AMOT_uc004ept.1_Missense_Mutation_p.R471H	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	471	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						CTCCGAGACGCGCTGGATTTC	0.483000												
ODZ1	10178	broad.mit.edu	37	X	123518248	123518248	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:123518248C>T	uc004euj.2	-	29	6576	c.6512G>A	c.(6511-6513)CGT>CAT	p.R2171H	ODZ1_uc011muj.1_Missense_Mutation_p.R2177H|ODZ1_uc010nqy.2_Missense_Mutation_p.R2178H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2171	YD 17.|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						GTAACTATAACGCCACTGGGT	0.443000												
ODZ1	10178	broad.mit.edu	37	X	123556221	123556221	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:123556221G>A	uc004euj.2	-	23	4415	c.4351C>T	c.(4351-4353)CGC>TGC	p.R1451C	ODZ1_uc011muj.1_Missense_Mutation_p.R1457C|ODZ1_uc010nqy.2_Missense_Mutation_p.R1458C	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1451	NHL 4.|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						TGCTGAATGCGGTTTACTTTC	0.502000												
MAP7D3	79649	broad.mit.edu	37	X	135314317	135314317	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:135314317C>T	uc004ezt.2	-	8	890	c.799G>A	c.(799-801)GAC>AAC	p.D267N	MAP7D3_uc004ezs.2_Missense_Mutation_p.D231N|MAP7D3_uc011mwc.1_Missense_Mutation_p.D249N|MAP7D3_uc010nsa.1_Intron	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	267						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CTCAATTCGTCGCTAGTACAT	0.423000												
RBMX	27316	broad.mit.edu	37	X	135957469	135957469	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:135957469G>A	uc004fae.1	-	7	940	c.730C>T	c.(730-732)CGT>TGT	p.R244C	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Silent_p.T135T|RBMX_uc004fad.1_Missense_Mutation_p.R244C|RBMX_uc011mwg.1_Missense_Mutation_p.R205C|RBMX_uc004faf.1_Missense_Mutation_p.R105C|RBMX_uc010nsf.1_Missense_Mutation_p.R205C|RBMX_uc004fag.1_Missense_Mutation_p.R116C	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	244						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CCATAATCACGGTAAGTATAA	0.393000												
RBMX	27316	broad.mit.edu	37	X	135961490	135961490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:135961490G>A	uc004fae.1	-	2	307	c.97C>T	c.(97-99)CGA>TGA	p.R33*	RBMX_uc011mwf.1_Nonsense_Mutation_p.R33*|RBMX_uc004fad.1_Nonsense_Mutation_p.R33*|RBMX_uc011mwg.1_Translation_Start_Site|RBMX_uc004faf.1_Translation_Start_Site|RBMX_uc010nsf.1_Intron|RBMX_uc004fag.1_Intron|SNORD61_uc004fah.1_5'Flank	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	33	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TCCACTATTCGTCCATATTTG	0.393000												
ZIC3	7547	broad.mit.edu	37	X	136649750	136649750	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:136649750G>T	uc004fak.2	+	1	1405	c.900G>T	c.(898-900)GAG>GAT	p.E300D		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	300	Nuclear localization signal.|C2H2-type 2; atypical.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GCTACTGGGAGGAGTGCCCCC	0.617000												
SOX3	6658	broad.mit.edu	37	X	139586578	139586578	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:139586578C>T	uc004fbd.1	-	1	648	c.648G>A	c.(646-648)ACG>ACA	p.T216T		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	216					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)					TCTTGAGCAGCGTCTTGGTCT	0.468000												
GPR50	9248	broad.mit.edu	37	X	150348463	150348463	+	Silent	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:150348463C>T	uc010ntg.1	+	2	543	c.408C>T	c.(406-408)TAC>TAT	p.Y136Y	uc004fes.1_5'Flank|GPR50_uc011myc.1_Silent_p.Y136Y	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	136	Cytoplasmic (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCCAGTACGAACGGATCT	0.542000												
ABCD1	215	broad.mit.edu	37	X	153001646	153001646	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:153001646G>A	uc004fif.2	+	3	1561	c.1162G>A	c.(1162-1164)GCC>ACC	p.A388T	ABCD1_uc004fig.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	388					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCACTATTGCCCGCAACCT	0.602000												
SSR4	6748	broad.mit.edu	37	X	153063827	153063827	+	Missense_Mutation	SNP	C	C	T	rs142189119		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:153063827C>T	uc004fiw.2	+	6	510	c.461C>T	c.(460-462)GCG>GTG	p.A154V	SSR4_uc004fiv.2_Missense_Mutation_p.A165V	NM_006280	NP_006271	P51571	SSRD_HUMAN	signal sequence receptor, delta precursor	154	Helical; (Potential).				intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTGGCTGCGGCGATCGGC	0.592000												
L1CAM	3897	broad.mit.edu	37	X	153130652	153130652	+	Silent	SNP	G	G	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:153130652G>A	uc004fjb.2	-	21	2871	c.2763C>T	c.(2761-2763)CCC>CCT	p.P921P	L1CAM_uc004fjc.2_Silent_p.P921P|L1CAM_uc010nuo.2_Silent_p.P916P	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	921	Extracellular (Potential).|Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)					GCAACGCCTCGGGGTGGCCAG	0.682000												
PLXNA3	55558	broad.mit.edu	37	X	153689697	153689697	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:153689697C>T	uc004flm.2	+	3	1026	c.853C>T	c.(853-855)CGC>TGC	p.R285C		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	285	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCTCCTGGCGCGGCGTGGA	0.637000												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
SLC35F5	80255	broad.mit.edu	37	2	114480774	114480774	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:114480773_114480773TA>T	uc002tku.1	-	13	1665	c.1251_splice	c.e13-1	p.W417_splice	SLC35F5_uc002tkt.3_Splice_Site|MIR4782_uc021vmz.1_5'Flank	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	417					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAGCAGCCCCtaaaaaaaaga	0.338												
AMMECR1L	83607	broad.mit.edu	37	2	128628936	128628936	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	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												
RBM43	375287	broad.mit.edu	37	2	152112048	152112048	+	Splice_Site	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:152112047_152112047CT>C	uc002txh.3	-	2	362	c.214_splice	c.e2+1	p.V72_splice		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCT	0.284												
USP53	54532	broad.mit.edu	37	4	120182871	120182871	+	Splice_Site	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:120182870_120182870CT>C	uc003ics.4	+	11	1889	c.823_splice	c.e11-1	p.L275_splice	USP53_uc003icr.4_Splice_Site_p.L275_splice|USP53_uc003icu.4_Splice_Site	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	275					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTTTAAACAGCTTTTTTATAG	0.299												
YTHDC2	64848	broad.mit.edu	37	5	112868745	112868745	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:112868744_112868744TA>T	uc003kqn.3	+	5	1044	c.842_splice	c.e5+2	p.R281_splice	YTHDC2_uc010jce.2_Splice_Site_p.R281_splice|YTHDC2_uc010jcf.2_Splice_Site	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	281	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGAAAGCAGGTAAAAACAGTT	0.383												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
HLA-A	3105	broad.mit.edu	37	6	29911900	29911900	+	Splice_Site	DEL	C	C	-	rs75368153		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|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.	207	Alpha-3.				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						TTCCCGTCAGACCCCCCCAAG	0.577									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)		
CDK5RAP2	55755	broad.mit.edu	37	9	123290085	123290085	+	Splice_Site	DEL	T	T	-	rs140244643	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:123290084_123290084CT>C	uc004bkf.3	-	10	1180	c.999_splice	c.e10+1	p.K333_splice	CDK5RAP2_uc004bkg.3_Splice_Site_p.K333_splice|CDK5RAP2_uc011lxw.2_Splice_Site|CDK5RAP2_uc011lxx.2_Splice_Site|CDK5RAP2_uc011lxy.2_Splice_Site|CDK5RAP2_uc011lxz.2_Splice_Site|CDK5RAP2_uc011lya.2_Splice_Site|CDK5RAP2_uc004bkh.1_Splice_Site_p.K333_splice|CDK5RAP2_uc004bki.3_Splice_Site_p.K132_splice	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	333					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCAGACATACCTTTTTTTCCT	0.338												
MYOF	26509	broad.mit.edu	37	10	95113648	95113648	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:95113647_95113647TA>T	uc001kin.3	-	32	3527	c.3404_splice	c.e32-1	p.R1135_splice	MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1135	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTAGACTCCTAAAAAAACAG	0.343												
ATL3	25923	broad.mit.edu	37	11	63420050	63420050	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373												
SF3B2	10992	broad.mit.edu	37	11	65836146	65836146	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:65836145_65836145CA>C	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACG	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DDX6	1656	broad.mit.edu	37	11	118629614	118629615	+	Splice_Site	INS	-	-	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:118629613_118629614T>TG	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)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL							
PLCZ1	89869	broad.mit.edu	37	12	18841025	18841025	+	Splice_Site	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:18841024_18841024AT>A	uc021qvx.1	-	13	1782	c.1591_splice	c.e13+1	p.A531_splice	PLCZ1_uc001rdv.4_Splice_Site_p.A427_splice|PLCZ1_uc001rdw.4_Splice_Site_p.A272_splice|PLCZ1_uc001rdu.1_Splice_Site_p.A313_splice|PLCZ1_uc009zil.1_Splice_Site	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	531	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGAGCTCACCATTTTTTTTAA	0.294												
PLCZ1	89869	broad.mit.edu	37	12	18858252	18858253	+	Splice_Site	INS	-	-	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:18858251_18858252T>TA	uc021qvx.1	-	7	906	c.715_splice	c.e7-1	p.T239_splice	PLCZ1_uc001rdv.4_Splice_Site_p.T135_splice|PLCZ1_uc001rdw.4_Splice_Site|PLCZ1_uc001rdu.1_Intron|PLCZ1_uc009zil.1_Splice_Site	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	239	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GTCAGATGTCTAAAAAAGTAAC	0.347												
DACH1	1602	broad.mit.edu	37	13	72049984	72049984	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:72049983_72049983TA>T	uc021rkj.1	-	9	2300	c.1877_splice	c.e9-1	p.A626_splice	DACH1_uc021rkk.1_Splice_Site_p.A478_splice|DACH1_uc021rkl.1_Splice_Site_p.A424_splice	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	676	DACHbox-C.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GAACTATGGCTAAAAAAGAGT	0.308												
PIGB	9488	broad.mit.edu	37	15	55621922	55621923	+	Splice_Site	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:55621921_55621922G>GT	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCCA	0.342												
SORL1	6653	broad.mit.edu	37	11	121323240	121323240	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:121323240delG	uc001pxx.2	+	1	280	c.200delG	c.(199-201)AGGfs	p.R67fs	uc001pxw.1_Intron	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	67					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGGGATGCCAGGGGGGCGAGC	0.731												
ATP2B1	490	broad.mit.edu	37	12	90020290	90020290	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:90020290delT	uc001tbh.2	-	7	1251	c.1070delA	c.(1069-1071)AAGfs	p.K357fs	ATP2B1_uc001tbg.2_Frame_Shift_Del_p.K357fs|ATP2B1_uc001tbf.2_Frame_Shift_Del_p.K27fs	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	357	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)|central_nervous_system(1)	3						AGATTTTTCCTTTTTTGGCAA	0.358												
SCAP	22937	broad.mit.edu	37	3	47459204	47459204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:47459204delG	uc003crh.1	-	17	2815	c.2560delC	c.(2560-2562)CTGfs	p.L854fs	SCAP_uc011baz.1_Frame_Shift_Del_p.L598fs|SCAP_uc003crg.2_Frame_Shift_Del_p.L461fs	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	854	Interaction with SREBF2 (By similarity).|Cytoplasmic (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)		CGGTGTCTCAGGGGAGGGCTG	0.657												
NADK	65220	broad.mit.edu	37	1	1687734	1687734	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:1687733_1687733TC>T	uc001aic.3	-	5	771	c.549_549GA>A	c.(547-549)ggafs	p.G183fs	NADK_uc001aid.4_Frame_Shift_Del_p.G183fs|NADK_uc001aie.3_Frame_Shift_Del_p.G328fs|NADK_uc010nyv.2_Frame_Shift_Del_p.G151fs|NADK_uc009vkx.1_Frame_Shift_Del_p.G61fs	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	183					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding	p.G183R(1)		NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCGTCCCGTCTCCCCCCAGGC	0.522												
SPEN	23013	broad.mit.edu	37	1	16260214	16260214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:16260213_16260213GC>G	uc001axk.1	+	10	7682	c.7478_7478GC>G	c.(7477-7479)agcfs	p.S2493fs	SPEN_uc010obp.1_Frame_Shift_Del_p.S2452fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2493	Pro-rich.|RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCACACCAGAGCCCCCCTACT	0.592												
ARID1A	8289	broad.mit.edu	37	1	27101268	27101268	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:27101267_27101267GC>G	uc001bmv.1	+	17	4922	c.4549_4549GC>G	c.(4549-4551)gccfs	p.A1517fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.A1516fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.A1134fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.A363fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1517					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		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)		CACGGGCTCTGCCCCCCAGGG	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
EPHA10	284656	broad.mit.edu	37	1	38185238	38185238	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:38185237_38185237TG>T	uc009vvi.3	-	14	2691	c.2605_2605CA>A	c.(2605-2607)aggfs	p.R869fs	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	869	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACAGTTCCTGGGGGGTGGC	0.612												
MIER1	57708	broad.mit.edu	37	1	67442326	67442326	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:67442325_67442325GA>G	uc001dde.2	+	11	1283	c.1149_1149GA>G	c.(1147-1149)tggfs	p.W383fs	MIER1_uc010opf.1_Frame_Shift_Del_p.W347fs|MIER1_uc009way.2_Frame_Shift_Del_p.W347fs|MIER1_uc010opg.1_Frame_Shift_Del_p.W347fs|MIER1_uc001ddf.2_Frame_Shift_Del_p.W347fs|MIER1_uc001ddc.2_Frame_Shift_Del_p.W383fs|MIER1_uc001ddg.2_Frame_Shift_Del_p.W303fs|MIER1_uc001ddh.2_Frame_Shift_Del_p.W267fs|MIER1_uc001ddj.1_Frame_Shift_Del_p.W330fs|MIER1_uc001ddi.2_Frame_Shift_Del_p.W330fs	NM_001077700	NP_001139584	Q8N108	MIER1_HUMAN	Homo sapiens mesoderm induction early response 1 homolog (Xenopus laevis) (MIER1), transcript variant 2, mRNA.	354					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.S333fs*2(1)|p.S386fs*2(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						ATTACATGTGGAAAAAATCTG	0.333												
FRRS1	391059	broad.mit.edu	37	1	100174665	100174665	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:100174664_100174664TA>T	uc001dsh.1	-	16	2273	c.1671_1671TA>A	c.(1669-1671)ttafs	p.L557fs		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	0					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		ACTGCCTTTTTAAAAGCATGA	0.338												
CDC14A	8556	broad.mit.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-	rs138415707		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTAT	0.403												
SYCP1	6847	broad.mit.edu	37	1	115527421	115527422	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:115527420_115527421T>TA	uc001efr.3	+	29	2843_2844	c.2634_2635T>TA	c.(2632-2637)agtaaafs	p.S878fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Ins_p.S878fs|SYCP1_uc009wgw.3_Frame_Shift_Ins_p.S853fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	878					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.K881fs*21(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGAAGAAAGTAAAAAAAAGAG	0.262												
OR10Z1	128368	broad.mit.edu	37	1	158576487	158576487	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:158576486_158576486TG>T	uc010pio.2	+	0	258	c.258_258TG>T	c.(256-258)gctfs	p.A86fs		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACC	0.557												
KIF26B	55083	broad.mit.edu	37	1	245849479	245849479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:245849478_245849478TC>T	uc001ibf.1	+	11	3633	c.3193_3193TC>T	c.(3193-3195)tccfs	p.S1065fs	KIF26B_uc001ibg.1_Frame_Shift_Del_p.S683fs|KIF26B_uc001ibh.1_Frame_Shift_Del_p.S307fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1065					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	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)			GCCCATGGGCTCCCCCCGGCT	0.662												
OR6F1	343169	broad.mit.edu	37	1	247875544	247875544	+	Frame_Shift_Del	DEL	G	G	-	rs61730473	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr1:247875543_247875543CG>C	uc001idj.1	-	0	515	c.515_515CG>G	c.(514-516)cgtfs	p.R172fs		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			GTTGATGGCACGGGGGCCACA	0.597												
KIDINS220	57498	broad.mit.edu	37	2	8926140	8926141	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:8926139_8926140G>GT	uc002qzc.2	-	16	2142_2143	c.1960_1961C>AC	c.(1960-1962)acafs	p.T654fs	KIDINS220_uc010yiv.1_Frame_Shift_Ins_p.T420fs|KIDINS220_uc002qzd.2_Frame_Shift_Ins_p.T612fs|KIDINS220_uc010yiw.1_Frame_Shift_Ins_p.T655fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	654	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGACAACATGTTTTTTTCCAT	0.322												
RAD51AP2	729475	broad.mit.edu	37	2	17697088	17697089	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:17697087_17697088G>GA	uc002rcl.1	-	0	2619_2620	c.2595_2596C>TC	c.(2593-2598)tttccafs	p.F865fs	RAD51AP2_uc010exn.1_Frame_Shift_Ins_p.F856fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	865										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCATCCATTGGAAAAAAACTAT	0.282												
ITSN2	50618	broad.mit.edu	37	2	24494722	24494722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:24494721_24494721GT>G	uc002rfe.2	-	18	2429	c.2171_2171AC>C	c.(2170-2172)acafs	p.T724fs	ITSN2_uc002rff.2_Frame_Shift_Del_p.T697fs|ITSN2_uc002rfg.3_Frame_Shift_Del_p.T724fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	724					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tttttcttgtgttttttcttc	0.348												
CCDC88A	55704	broad.mit.edu	37	2	55561925	55561926	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:55561924_55561925G>GT	uc002ryv.2	-	14	2874_2875	c.2032_2033C>AC	c.(2032-2034)acafs	p.T678fs	CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.T580fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.3_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	678					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCTATCCAATGTTTTTTTTAAT	0.287												
BCL11A	53335	broad.mit.edu	37	2	60687584	60687585	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:60687583_60687584A>AT	uc002sae.1	-	3	2691_2692	c.2463_2464T>AT	c.(2461-2466)aaatggfs	p.K821fs	BCL11A_uc002sab.3_Intron|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_Frame_Shift_Ins_p.K669fs|BCL11A_uc002saf.1_Frame_Shift_Ins_p.K787fs	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	821					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCACTGTGCCATTTTTTCATGT	0.426			T	IGH@	B-CLL							
ATP6V1B1	525	broad.mit.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NCAPH	23397	broad.mit.edu	37	2	97025921	97025921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:97025920_97025920CA>C	uc002svz.1	+	10	1481	c.1397_1397CA>C	c.(1396-1398)acafs	p.T466fs	NCAPH_uc010fhv.1_Frame_Shift_Del_p.T455fs|NCAPH_uc010yum.1_Frame_Shift_Del_p.T442fs|NCAPH_uc010yun.1_Frame_Shift_Del_p.T330fs	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	466					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AAGAAGAGTACAAAAAAAGAT	0.328												
SLC35F5	80255	broad.mit.edu	37	2	114480774	114480774	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:114480773_114480773TA>T	uc002tku.1	-	13	1665	c.1251_splice	c.e13-1	p.W417_splice	SLC35F5_uc002tkt.3_Splice_Site|MIR4782_uc021vmz.1_5'Flank	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	417					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAGCAGCCCCtaaaaaaaaga	0.338												
CCDC93	54520	broad.mit.edu	37	2	118732806	118732806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:118732805_118732805CT>C	uc002tlj.3	-	8	877	c.709_709AG>G	c.(709-711)gctfs	p.A237fs	CCDC93_uc010fld.2_Frame_Shift_Del_p.A293fs	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	237										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TGGGCATCAGCTTTTTCTGTA	0.517												
AMMECR1L	83607	broad.mit.edu	37	2	128628936	128628936	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	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												
RIF1	55183	broad.mit.edu	37	2	152320989	152320989	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:152320988_152320988GA>G	uc002txm.3	+	29	5115	c.4954_4954GA>G	c.(4954-4956)gaafs	p.E1652fs	RIF1_uc002txn.3_Frame_Shift_Del_p.E1652fs|RIF1_uc002txl.3_Frame_Shift_Del_p.E1652fs|RIF1_uc002txo.3_Frame_Shift_Del_p.E1652fs|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1652					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGTGTGTGAGGAAAAAAATGA	0.328												
GALNT5	11227	broad.mit.edu	37	2	158167733	158167734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:158167732_158167733G>GT	uc002tzg.3	+	9	2950_2951	c.2695_2696G>GT	c.(2695-2697)gttfs	p.V899fs	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	899	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GAATCACATTGTTTTTGAAAAC	0.366												
FAM171B	165215	broad.mit.edu	37	2	187626384	187626384	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:187626383_187626383GA>G	uc002ups.3	+	7	1426	c.1314_1314GA>G	c.(1312-1314)cagfs	p.Q438fs	FAM171B_uc002upr.1_Intron|FAM171B_uc002upt.3_5'Flank	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	438						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ATAGTCCTCAGAAAAAGGAAC	0.353												
TRIP12	9320	broad.mit.edu	37	2	230724116	230724117	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr2:230724115_230724116G>GT	uc002vpx.1	-	3	508_509	c.399_400C>AC	c.(397-402)aaaccafs	p.K133fs	TRIP12_uc021vxw.1_Frame_Shift_Ins_p.K91fs|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Frame_Shift_Ins_p.K91fs|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Frame_Shift_Ins_p.K91fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	91					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		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)		AGTGCTTTTGGTTTTTTTGCAG	0.436												
GLB1	2720	broad.mit.edu	37	3	33038565	33038565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:33038564_33038564GT>G	uc011axk.1	-	16	2268	c.2151_2151AC>C	c.(2149-2151)aacfs	p.N717fs	GLB1_uc003cfh.1_Frame_Shift_Del_p.N639fs|GLB1_uc003cfi.1_Frame_Shift_Del_p.N669fs|GLB1_uc003cfj.1_Frame_Shift_Del_p.N538fs	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	669					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				ATGAATCTTTGTTTTTTTGCG	0.478												
NCKIPSD	51517	broad.mit.edu	37	3	48718986	48718988	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:48718985_48718987ACTT>A	uc003cun.3	-	4	919_921	c.825_827AAGT>T	c.(823-828)gaagtg>gaTg	p.275_276EV>D	NCKIPSD_uc003cum.3_In_Frame_Del_p.268_269EV>D|NCKIPSD_uc010hkh.2_In_Frame_Del_p.275_276EV>D	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	275	Pro-rich.				NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACCAGTTGCCACTTCTTCTTCTG	0.645												
COL8A1	1295	broad.mit.edu	37	3	99514534	99514534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:99514533_99514533AC>A	uc003dti.1	+	2	1919	c.1791_1791AC>A	c.(1789-1791)aaafs	p.K597fs	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Frame_Shift_Del_p.K596fs|COL8A1_uc003dth.1_Frame_Shift_Del_p.K596fs	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	596	Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGGCGTGAAACCCCCCCATG	0.612												
MYH15	22989	broad.mit.edu	37	3	108172981	108172981	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:108172980_108172980TA>T	uc003dxa.1	-	21	2389	c.2332_2332TA>A	c.(2332-2334)aaafs	p.K778fs		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	778	Actin-binding (By similarity).|Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AACCCAGCTTTAAAAAACACC	0.408												
PLOD2	5352	broad.mit.edu	37	3	145828190	145828190	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:145828189_145828189AT>A	uc003evr.1	-	3	891	c.385_385AT>T	c.(385-387)ttcfs	p.F129fs	PLOD2_uc011bnm.1_Frame_Shift_Del_p.F74fs|PLOD2_uc003evs.1_Frame_Shift_Del_p.F129fs	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	129					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GCCTTTTGGAATTTTTTTAGA	0.388												
GYG1	2992	broad.mit.edu	37	3	148727089	148727089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:148727088_148727088AT>A	uc003ewn.3	+	4	740	c.507_507AT>A	c.(505-507)acafs	p.T169fs	GYG1_uc011bnp.2_Intron|GYG1_uc003ewo.3_Frame_Shift_Del_p.T169fs|GYG1_uc003ewp.3_Frame_Shift_Del_p.T169fs	NM_004130	NP_004121	P46976	GLYG_HUMAN	Homo sapiens glycogenin 1 (GYG1), transcript variant 1, mRNA.	169					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TACTGAACACATTTTTTAGCA	0.358												
AHSG	197	broad.mit.edu	37	3	186338454	186338455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:186338453_186338454T>TC	uc003fqk.4	+	6	919_920	c.838_839T>TC	c.(838-840)tccfs	p.S280fs		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	280					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGCACCTCCGTCCCCTCCACTT	0.624												
UBXN7	26043	broad.mit.edu	37	3	196096324	196096324	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:196096323_196096323GA>G	uc003fwm.4	-	6	750	c.675_675TC>C	c.(673-675)ttcfs	p.F225fs	UBXN7_uc003fwn.4_Frame_Shift_Del_p.F77fs|UBXN7_uc010iae.3_Frame_Shift_Del_p.F63fs	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	225							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAACATAGGGGAAATCCCCTA	0.353												
PIGZ	80235	broad.mit.edu	37	3	196674301	196674302	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr3:196674300_196674301T>TC	uc003fxh.3	-	2	1614_1615	c.1467_1468A>GA	c.(1465-1470)gggactfs	p.G489fs		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	489					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CAGTCCTCAGTCCCCCCCATGT	0.629												
TACC3	10460	broad.mit.edu	37	4	1730308	1730309	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:1730307_1730308A>AC	uc003gdo.3	+	3	1333_1334	c.1178_1179A>AC	c.(1177-1179)gacfs	p.D393fs	TACC3_uc010ibz.3_Frame_Shift_Ins_p.D393fs|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	393						centrosome		p.M396fs*17(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCAGGAGAGGACCCCCCCATGC	0.609												
NOP14	8602	broad.mit.edu	37	4	2958520	2958520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:2958519_2958519CT>C	uc003ggj.1	-	2	422	c.350_350AG>G	c.(349-351)agcfs	p.S117fs	NOP14-AS1_uc003ggi.1_Intron|NOP14_uc003ggl.3_Frame_Shift_Del_p.S117fs|NOP14_uc010icq.1_Non-coding_Transcript	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	117					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						ATTGTAGATGCTTTTTTTCTC	0.348												
PROM1	8842	broad.mit.edu	37	4	15995680	15995681	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:15995679_15995680A>AT	uc003goo.2	-	14	1909_1910	c.1697_1698T>AT	c.(1696-1698)aatfs	p.N566fs	PROM1_uc003gor.2_Frame_Shift_Ins_p.N566fs|PROM1_uc003gos.2_Frame_Shift_Ins_p.N557fs|PROM1_uc003got.2_Frame_Shift_Ins_p.N566fs|PROM1_uc003gou.2_Frame_Shift_Ins_p.N557fs|PROM1_uc003gop.2_Frame_Shift_Ins_p.N557fs|PROM1_uc003goq.3_Frame_Shift_Ins_p.N557fs	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	p.N565N(4)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AAGTGCCTCTATTTTTTTTGCA	0.426												
APBB2	323	broad.mit.edu	37	4	41015658	41015660	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:41015657_41015659ACTC>A	uc003gvn.3	-	5	1406_1408	c.776_778GAGT>T	c.(775-780)gagtcc>gTcc	p.259_260ES>V	APBB2_uc003gvl.3_In_Frame_Del_p.259_260ES>V|APBB2_uc003gvm.3_In_Frame_Del_p.259_260ES>V|APBB2_uc011byt.1_In_Frame_Del_p.242_243ES>V	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	259					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTCCAGCTGGACTCCTCATCGCT	0.567												
UGT2B10	7365	broad.mit.edu	37	4	69885835	69885838	+	Frame_Shift_Del	DEL	TTAG	TTAG	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:69885834_69885837TTTAG>T	uc011cao.1	-	1	258_261	c.132_135CTAAA>A	c.(130-135)actaaafs	p.T44fs	UGT2B10_uc011can.1_Frame_Shift_Del_p.T44fs			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	81					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCAACTCAGTTTTAGTTAAAGATG	0.348												
ENAM	10117	broad.mit.edu	37	4	71503555	71503556	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:71503554_71503555A>AG	uc011caw.1	+	7	863_864	c.582_583A>AG	c.(580-585)gaagggfs	p.E194fs		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	194					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GCAATGAAGAAGGGGGGGTAAG	0.431												
ARHGAP24	83478	broad.mit.edu	37	4	86916593	86916593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:86916592_86916592GC>G	uc003hpk.3	+	8	2234	c.1785_1785GC>G	c.(1783-1785)gggfs	p.G595fs	ARHGAP24_uc003hpl.3_Frame_Shift_Del_p.G500fs|ARHGAP24_uc010ikf.3_Frame_Shift_Del_p.G510fs|ARHGAP24_uc003hpm.3_Frame_Shift_Del_p.G502fs	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	595					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTTGGATGGGCCCCCGCAGG	0.562												
SEC24D	9871	broad.mit.edu	37	4	119674004	119674005	+	Frame_Shift_Ins	INS	-	-	A	rs138187019	by1000genomes	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:119674003_119674004T>TA	uc003ici.4	-	11	1733_1734	c.1461_1462A>TA	c.(1459-1464)tttatcfs	p.F487fs	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Frame_Shift_Ins_p.F488fs|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	487					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTATATGTGATAAAACCCACTC	0.376												
USP53	54532	broad.mit.edu	37	4	120182871	120182871	+	Splice_Site	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:120182870_120182870CT>C	uc003ics.4	+	11	1889	c.823_splice	c.e11-1	p.L275_splice	USP53_uc003icr.4_Splice_Site_p.L275_splice|USP53_uc003icu.4_Splice_Site	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	275					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTTTAAACAGCTTTTTTATAG	0.299												
KIAA1109	84162	broad.mit.edu	37	4	123202735	123202735	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:123202734_123202734GA>G	uc003ieh.3	+	49	8887	c.8842_8842GA>G	c.(8842-8844)gaafs	p.E2948fs	KIAA1109_uc003iel.1_Frame_Shift_Del_p.E883fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2948					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTACCTTCTGAAAAAACCCC	0.343												
SORBS2	8470	broad.mit.edu	37	4	186578685	186578685	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr4:186578684_186578684AG>A	uc003iyg.3	-	4	451	c.419_419CT>T	c.(418-420)ctgfs	p.L140fs	SORBS2_uc003iyh.3_Frame_Shift_Del_p.L233fs|SORBS2_uc011ckw.2_Frame_Shift_Del_p.L123fs|SORBS2_uc003iyi.3_Frame_Shift_Del_p.L140fs|SORBS2_uc011ckx.2_Frame_Shift_Del_p.L100fs|SORBS2_uc003iyk.3_Frame_Shift_Del_p.L140fs|SORBS2_uc003iym.3_Frame_Shift_Del_p.L154fs|SORBS2_uc003iyl.3_Frame_Shift_Del_p.L54fs|SORBS2_uc003iyn.1_Frame_Shift_Del_p.L100fs|SORBS2_uc011cky.1_Frame_Shift_Del_p.L117fs|SORBS2_uc011cku.2_5'Flank|SORBS2_uc011ckv.2_5'Flank|SORBS2_uc003iyd.3_Frame_Shift_Del_p.L233fs|SORBS2_uc003iye.3_Frame_Shift_Del_p.L54fs|SORBS2_uc003iya.3_Frame_Shift_Del_p.L54fs|SORBS2_uc003iyb.3_Frame_Shift_Del_p.L54fs|SORBS2_uc003iyc.3_Frame_Shift_Del_p.L54fs|SORBS2_uc003iyf.3_Frame_Shift_Del_p.L117fs|SORBS2_uc003iyo.1_5'Flank	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	54						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGATCGGTACAGGGGGATAGA	0.527												
DHX29	54505	broad.mit.edu	37	5	54589966	54589966	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:54589965_54589965CT>C	uc003jpx.3	-	5	780	c.660_660AG>G	c.(658-660)aagfs	p.K220fs	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	220							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTTTTTCTTCCTTTTTTGGCT	0.294												
GPR98	84059	broad.mit.edu	37	5	90124781	90124781	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:90124780_90124780AT>A	uc003kju.3	+	76	16484	c.16388_16388AT>A	c.(16387-16389)tatfs	p.Y5463fs	GPR98_uc003kjt.3_Frame_Shift_Del_p.Y3169fs|GPR98_uc003kjw.3_Frame_Shift_Del_p.Y1124fs	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5463	Calx-beta 35.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTGAAGTGTATTTTTTTGTG	0.318												
YTHDC2	64848	broad.mit.edu	37	5	112868745	112868745	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:112868744_112868744TA>T	uc003kqn.3	+	5	1044	c.842_splice	c.e5+2	p.R281_splice	YTHDC2_uc010jce.2_Splice_Site_p.R281_splice|YTHDC2_uc010jcf.2_Splice_Site	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	281	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGAAAGCAGGTAAAAACAGTT	0.383												
ZNF608	57507	broad.mit.edu	37	5	123980122	123980122	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:123980121_123980121AT>A	uc003ktq.1	-	4	4122	c.3939_3939AT>T	c.(3937-3939)aatfs	p.N1313fs	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003ktp.1_Frame_Shift_Del_p.N8fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	1313						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)		TTCGATCATCATTTTTCAGCT	0.483												
RAPGEF6	51735	broad.mit.edu	37	5	131039814	131039814	+	Frame_Shift_Del	DEL	A	A	-	rs13177318		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:131039813_131039813GA>G	uc003kvs.1	-	9	1203	c.1061_1061TC>C	c.(1060-1062)tcafs	p.S354fs	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Frame_Shift_Del_p.S326fs|RAPGEF6_uc010jdm.1_Frame_Shift_Del_p.S309fs|RAPGEF6_uc003kvu.3_Frame_Shift_Del_p.S354fs	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity	p.A354S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGGAAAATGTGAAAAAAAGAA	0.289												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
WDR55	54853	broad.mit.edu	37	5	140048212	140048214	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:140048211_140048213GTCT>G	uc003lgr.4	+	3	509_511	c.395_397GTCT>G	c.(394-399)agtctt>aGtt	p.L135del	WDR55_uc011czl.1_5'UTR	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	Homo sapiens WD repeat domain 55 (WDR55), mRNA.	135					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCATCAATAGTCTTCTGCTGGT	0.537												
LARP1	23367	broad.mit.edu	37	5	154173390	154173391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:154173389_154173390G>GC	uc003lvo.3	+	5	691_692	c.667_668G>GC	c.(667-669)gccfs	p.A223fs	LARP1_uc021ygh.1_Frame_Shift_Ins_p.A95fs|LARP1_uc021ygi.1_Frame_Shift_Ins_p.A300fs|LARP1_uc010jie.1_Frame_Shift_Ins_p.A95fs	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	300							RNA binding|protein binding	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644												
GABRB2	2561	broad.mit.edu	37	5	160753482	160753482	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:160753481_160753481TA>T	uc003lys.1	-	9	1303	c.1085_1085TA>A	c.(1084-1086)tatfs	p.Y362fs	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	362					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	aatatctttataaaaaatctg	0.373												
CDHR2	54825	broad.mit.edu	37	5	176017672	176017673	+	Frame_Shift_Ins	INS	-	-	GT	rs145867125	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr5:176017671_176017672C>CGT	uc021yie.1	+	27	3796_3797	c.3522_3523C>CGT	c.(3520-3525)ttcgtgfs	p.F1174fs	CDHR2_uc003mem.2_Frame_Shift_Ins_p.F1174fs|CDHR2_uc003men.1_Frame_Shift_Ins_p.F1174fs	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1174					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.V1175M(2)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCATGGCCTTCGTGTGTGTGCG	0.584												
PHACTR1	221692	broad.mit.edu	37	6	13206135	13206135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:13206134_13206134TG>T	uc003nah.2	+	7	1125	c.752_752TG>T	c.(751-753)gtgfs	p.V251fs	PHACTR1_uc011dir.2_Frame_Shift_Del_p.V320fs|PHACTR1_uc010jpc.3_Frame_Shift_Del_p.V251fs|PHACTR1_uc003nag.2_Frame_Shift_Del_p.V251fs	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCA	0.597												
PGBD1	84547	broad.mit.edu	37	6	28269913	28269913	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:28269912_28269912AT>A	uc003nky.3	+	6	2701	c.2281_2281AT>A	c.(2281-2283)attfs	p.I761fs	PGBD1_uc003nkz.3_Frame_Shift_Del_p.I761fs	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	761					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGGTACTCAATTTTGGTGAG	0.408												
OR2J2	26707	broad.mit.edu	37	6	29142310	29142310	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:29142309_29142309AG>A	uc011dlm.2	+	0	999	c.897_897AG>A	c.(895-897)aaafs	p.K299fs		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AGCATGTAAAAGGGGCAGCGA	0.438												
HLA-A	3105	broad.mit.edu	37	6	29911900	29911900	+	Splice_Site	DEL	C	C	-	rs75368153		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|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.	207	Alpha-3.				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						TTCCCGTCAGACCCCCCCAAG	0.577									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)		
SKIV2L	6499	broad.mit.edu	37	6	31934881	31934881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:31934880_31934880TG>T	uc003nyn.1	+	19	2829	c.2440_2440TG>T	c.(2440-2442)tggfs	p.W814fs	SKIV2L_uc011dou.1_Frame_Shift_Del_p.W656fs|SKIV2L_uc011dov.1_Frame_Shift_Del_p.W621fs	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	814						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ATATTACAGCTGGGGGGAGGA	0.552												
DOM3Z	1797	broad.mit.edu	37	6	31939231	31939231	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:31939230_31939230TG>T	uc003nyp.1	-	1	556	c.223_223CA>A	c.(223-225)actfs	p.T75fs	DOM3Z_uc003nyq.1_Intron|DOM3Z_uc010jtl.1_Frame_Shift_Del_p.T75fs|STK19_uc003nyt.3_Intron|DOM3Z_uc003nyu.1_Frame_Shift_Del_p.T75fs|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	75							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						GGACCGTTAGTGGGGGGTGGG	0.622												
RING1	6015	broad.mit.edu	37	6	33178990	33178990	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:33178989_33178989TG>T	uc003odk.3	+	4	704	c.510_510TG>T	c.(508-510)agtfs	p.S170fs	RING1_uc011dqx.1_Frame_Shift_Del_p.S170fs|RING1_uc003odl.3_Frame_Shift_Del_p.S141fs	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAG	0.617												
KCNK17	89822	broad.mit.edu	37	6	39272281	39272281	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:39272280_39272280GC>G	uc003ooo.3	-	2	645	c.504_504GC>C	c.(502-504)ggcfs	p.G168fs	KCNK17_uc003oop.3_Frame_Shift_Del_p.G168fs	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	168						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						CCTGCCAGGTGCCCCCCAGCC	0.607												
BMP5	653	broad.mit.edu	37	6	55625309	55625309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:55625308_55625308GT>G	uc003pcq.3	-	4	1763	c.1051_1051AC>C	c.(1051-1053)caafs	p.Q351fs	BMP5_uc011dxf.2_Frame_Shift_Del_p.Q351fs	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	351					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTACAGGCTTGTTTTTGCTCA	0.363												
IBTK	25998	broad.mit.edu	37	6	82891683	82891683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:82891682_82891682CT>C	uc003pjl.1	-	25	4166	c.3639_3639AG>G	c.(3637-3639)aagfs	p.K1213fs	IBTK_uc011dyu.1_Frame_Shift_Del_p.K164fs|IBTK_uc011dyv.1_Frame_Shift_Del_p.K1198fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.K1012fs|IBTK_uc010kbi.1_Frame_Shift_Del_p.K907fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1213					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		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)		TAGTAACAGACTTTTTTTCTT	0.348												
AIM1	202	broad.mit.edu	37	6	106968459	106968461	+	In_Frame_Del	DEL	AAG	AAG	-	rs139190201		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:106968458_106968460AAAG>A	uc003prh.3	+	1	3063_3065	c.2151_2153AAAG>A	c.(2149-2154)agaaag>agAg	p.K719del		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	719							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCATGAAAAGAAAGAAGGCCAGG	0.394												
SLC22A16	85413	broad.mit.edu	37	6	110763711	110763711	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:110763710_110763710AT>A	uc003puf.3	-	3	987	c.920_920AT>T	c.(919-921)atafs	p.I307fs	SLC22A16_uc003pue.3_Frame_Shift_Del_p.I288fs	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	307					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GATGTCAACTATTTTTTGTGC	0.473												
LAMA4	3910	broad.mit.edu	37	6	112450166	112450166	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:112450165_112450165CT>C	uc003pvu.2	-	30	4555	c.4246_4246AG>G	c.(4246-4248)ggafs	p.G1416fs	LAMA4_uc003pvv.2_Frame_Shift_Del_p.G1409fs|LAMA4_uc003pvt.2_Frame_Shift_Del_p.G1409fs	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1416					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAATTTTTTCCTTTTTTATGG	0.373												
UTRN	7402	broad.mit.edu	37	6	144759980	144759980	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:144759979_144759979GC>G	uc003qkt.3	+	10	1432	c.1340_1340GC>G	c.(1339-1341)tgcfs	p.C447fs	UTRN_uc010khq.1_Frame_Shift_Del_p.C447fs	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	447	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGGAAACTTGCCCCCTGGAT	0.438												
UST	10090	broad.mit.edu	37	6	149395142	149395142	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:149395141_149395141GC>G	uc003qmg.3	+	7	1406	c.1110_1110GC>G	c.(1108-1110)aagfs	p.K370fs		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	Homo sapiens uronyl-2-sulfotransferase (UST), mRNA.	370					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGA	0.493												
ARID1B	57492	broad.mit.edu	37	6	157528284	157528284	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr6:157528283_157528283AG>A	uc003qqp.3	+	18	5969	c.5969_5969AG>A	c.(5968-5970)aagfs	p.K1990fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.K2003fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.K2043fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1990					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GATGAGGACAAGGGGGTGGCC	0.567												
COBL	23242	broad.mit.edu	37	7	51096436	51096437	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:51096435_51096436GCT>G	uc003tps.3	-	10	2713_2714	c.2528_2529AGC>C	c.(2527-2529)agcfs	p.S843fs	COBL_uc003tpr.4_Frame_Shift_Del_p.S786fs|COBL_uc011kcl.2_Frame_Shift_Del_p.S786fs|COBL_uc003tpp.4_Frame_Shift_Del_p.S572fs|COBL_uc003tpq.4_Frame_Shift_Del_p.S727fs|COBL_uc003tpo.4_Frame_Shift_Del_p.S328fs	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	786								p.S786I(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCCTGGCAGAGCTCTCTGAGGG	0.584												
SEMA3D	223117	broad.mit.edu	37	7	84636220	84636220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:84636219_84636219CA>C	uc003uic.3	-	15	1847	c.1807_1807TG>G	c.(1807-1809)ggcfs	p.G603fs	SEMA3D_uc010led.3_Frame_Shift_Del_p.G603fs|SEMA3D_uc003uib.3_Frame_Shift_Del_p.G242fs	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	603	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AATTCAATGCCAAAAATCACC	0.378												
ABCB1	5243	broad.mit.edu	37	7	87178807	87178808	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:87178806_87178807CCT>C	uc003uiz.2	-	14	2075_2076	c.1582_1583AGG>G	c.(1582-1584)gggfs	p.G528fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.G464fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	528	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAACTGGGCCCCTCTCTCTCCA	0.505												
CFTR	1080	broad.mit.edu	37	7	117304765	117304766	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:117304764_117304765AAC>A	uc003vjd.3	+	24	4118_4119	c.3986_3987AAC>A	c.(3985-3987)gaafs	p.E1329fs	CFTR_uc011knq.2_Frame_Shift_Del_p.E735fs	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1329	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTGTGATAGAACAGTTTCCTG	0.446									Cystic Fibrosis			
WNT16	51384	broad.mit.edu	37	7	120971879	120971880	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:120971878_120971879T>TG	uc003vjw.3	+	2	750_751	c.493_494T>TG	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Ins_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)|p.G167fs*17(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTGC	0.535												
ZNF800	168850	broad.mit.edu	37	7	127013702	127013702	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:127013701_127013701CT>C	uc010lla.2	-	4	2401	c.1689_1689AG>G	c.(1687-1689)aagfs	p.K563fs	ZNF800_uc003vlw.1_Frame_Shift_Del_p.K466fs|ZNF800_uc003vlx.1_Frame_Shift_Del_p.K563fs|ZNF800_uc003vly.1_Frame_Shift_Del_p.K563fs	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AATCAATAGGCTTTTTTATAG	0.368												
SND1	27044	broad.mit.edu	37	7	127724851	127724851	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:127724850_127724850GC>G	uc003vmi.3	+	18	2411	c.2185_2185GC>G	c.(2185-2187)gccfs	p.A729fs	SND1_uc010lle.3_Frame_Shift_Del_p.A382fs	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	729	Tudor.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GGGCTCCTATGCCCCCCGCAG	0.547												
MKLN1	4289	broad.mit.edu	37	7	131148075	131148076	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:131148074_131148075G>GA	uc011kpm.2	+	12	1688_1689	c.1624_1625G>GA	c.(1624-1626)gaafs	p.E542fs	MKLN1_uc011kpl.2_Frame_Shift_Ins_p.E519fs|MKLN1_uc010lmh.2_Frame_Shift_Ins_p.E542fs|MKLN1_uc003vqs.3_Frame_Shift_Ins_p.E335fs|MKLN1_uc003vqu.3_Frame_Shift_Ins_p.E32fs	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	542					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AAAGAGGGAAGAAAATGTTAGA	0.361												
PODXL	5420	broad.mit.edu	37	7	131191478	131191478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:131191477_131191477GC>G	uc003vqw.4	-	5	1368	c.1110_1110GC>C	c.(1108-1110)ggcfs	p.G370fs	PODXL_uc003vqx.4_Frame_Shift_Del_p.G338fs	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	370					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATCCGAAGCGCCCCCTGCCT	0.617											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CNTNAP2	26047	broad.mit.edu	37	7	146471423	146471423	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:146471422_146471422TC>T	uc003weu.2	+	1	673	c.157_157TC>T	c.(157-159)tccfs	p.S53fs		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	53	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCTCCTCCTCCATCTCTGG	0.423										HNSCC(39;0.1)		
RNF32	140545	broad.mit.edu	37	7	156436577	156436577	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr7:156436576_156436576TA>T	uc003wmo.3	+	1	235	c.5_5TA>T	c.(4-6)ttafs	p.L2fs	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Frame_Shift_Del_p.L2fs|RNF32_uc003wmq.3_Frame_Shift_Del_p.L2fs|RNF32_uc003wmr.3_Frame_Shift_Del_p.L2fs|RNF32_uc003wms.3_Frame_Shift_Del_p.L2fs|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Frame_Shift_Del_p.L2fs	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	2						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTCGGCATGTTAAAAAATAAG	0.338												
SOX7	83595	broad.mit.edu	37	8	10583952	10583952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:10583951_10583951GC>G	uc011kwz.2	-	5	653	c.620_620GC>C	c.(619-621)gcgfs	p.A207fs	BC043573_uc003wtg.1_5'Flank|SOX7_uc003wtf.3_Frame_Shift_Del_p.A155fs	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	155					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CTCCCCCAGCGCCCCCCGGCT	0.731												
WHSC1L1	54904	broad.mit.edu	37	8	38146945	38146946	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:38146944_38146945G>GT	uc003xli.3	-	17	3715_3716	c.3197_3198C>AC	c.(3196-3198)aacfs	p.N1066fs	WHSC1L1_uc011lbm.2_Frame_Shift_Ins_p.N1066fs|WHSC1L1_uc010lwe.3_Frame_Shift_Ins_p.N1017fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	1066					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTTTTCTTGAGTTTTTTTCAAT	0.371			T	NUP98	AML							
ST18	9705	broad.mit.edu	37	8	53071553	53071553	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:53071552_53071552TG>T	uc003xqz.2	-	9	1868	c.1712_1712CA>A	c.(1711-1713)cacfs	p.H571fs	ST18_uc011ldq.1_Frame_Shift_Del_p.H218fs|ST18_uc011ldr.1_Frame_Shift_Del_p.H536fs|ST18_uc011lds.1_Frame_Shift_Del_p.H476fs|ST18_uc003xra.2_Frame_Shift_Del_p.H571fs|ST18_uc003xrb.2_Frame_Shift_Del_p.H571fs	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	571						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGCTGCTATGTGGGTGTCTTC	0.567												
RP1	6101	broad.mit.edu	37	8	55540279	55540279	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:55540278_55540278CT>C	uc003xsd.1	+	3	3984	c.3836_3836CT>C	c.(3835-3837)actfs	p.T1279fs	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1279					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCCAGTGACACTTTTTTTCCT	0.418												
NBN	4683	broad.mit.edu	37	8	90965666	90965666	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:90965665_90965665CT>C	uc003yej.1	-	10	1762	c.1652_1652AG>G	c.(1651-1653)aggfs	p.R551fs	NBN_uc011lgb.1_Frame_Shift_Del_p.R551fs|NBN_uc003yei.1_Frame_Shift_Del_p.R469fs	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	551					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATCCATTTCCCTTTTTTTATT	0.323								Homologous recombination				
INTS8	55656	broad.mit.edu	37	8	95848830	95848830	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:95848829_95848829AT>A	uc003yhb.3	+	6	957	c.831_831AT>A	c.(829-831)aaafs	p.K277fs	INTS8_uc003yha.1_Frame_Shift_Del_p.K277fs|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Frame_Shift_Del_p.K104fs	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	277					snRNA processing	integrator complex	protein binding	p.K277N(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CCAGGGAAAAATTTTTTAGAA	0.348												
TSPYL5	85453	broad.mit.edu	37	8	98289664	98289665	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:98289663_98289664C>CG	uc003yhy.3	-	0	513_514	c.409_410G>CG	c.(409-411)cgcfs	p.R137fs		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	137					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GTTTCCAACGCGGGGGGCATTT	0.673												
POP1	10940	broad.mit.edu	37	8	99148887	99148887	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:99148886_99148886TA>T	uc003yij.4	+	7	1288	c.1188_1188TA>T	c.(1186-1188)attfs	p.I396fs	POP1_uc011lgv.2_Frame_Shift_Del_p.I396fs|POP1_uc003yik.3_Frame_Shift_Del_p.I396fs	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	396					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTAAACCAATTAAAAAAATTA	0.368												
FZD6	8323	broad.mit.edu	37	8	104342161	104342161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:104342160_104342160AC>A	uc003ylh.3	+	5	2109	c.1819_1819AC>A	c.(1819-1821)accfs	p.T607fs	FZD6_uc011lhn.2_Frame_Shift_Del_p.T575fs|FZD6_uc003ylj.3_Frame_Shift_Del_p.T607fs|FZD6_uc011lho.2_Frame_Shift_Del_p.T302fs|FZD6_uc011lhp.2_Frame_Shift_Del_p.T552fs	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	607					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CGGAGCTAGCACCCCCAGGTT	0.527												
MTBP	27085	broad.mit.edu	37	8	121514828	121514829	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:121514827_121514828G>GA	uc003ypc.1	+	14	1750_1751	c.1705_1706G>GA	c.(1705-1707)gaafs	p.E569fs		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	569	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GGAAACTTTTGAAAAAACTAAA	0.292												
EIF2C2	27161	broad.mit.edu	37	8	141561430	141561430	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:141561429_141561429TG>T	uc003yvn.3	-	10	1417	c.1376_1376CA>A	c.(1375-1377)cagfs	p.Q459fs	EIF2C2_uc010meo.3_Frame_Shift_Del_p.Q459fs|EIF2C2_uc010men.3_Frame_Shift_Del_p.Q382fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	459					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GCACTGGCGCTGGGGGGCGAA	0.642												
SLC45A4	57210	broad.mit.edu	37	8	142222546	142222546	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:142222545_142222545GC>G	uc003ywd.1	-	6	2207	c.1899_1899GC>C	c.(1897-1899)ggcfs	p.G633fs	SLC45A4_uc003ywc.1_Frame_Shift_Del_p.G633fs|SLC45A4_uc010meq.1_Frame_Shift_Del_p.G631fs	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	684					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGTCGACCACGCCCCCAAGGG	0.617												
RECQL4	9401	broad.mit.edu	37	8	145738055	145738055	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr8:145738054_145738054GC>G	uc003zdj.3	-	16	2898	c.2856_2856GC>C	c.(2854-2856)ggcfs	p.G952fs		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	952					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding	p.G952G(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCTGGGCAGGGCCCCCAGGGC	0.627			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			
RFX3	5991	broad.mit.edu	37	9	3248099	3248100	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:3248098_3248099CAT>C	uc003zhr.3	-	15	2213_2214	c.1901_1902ATG>G	c.(1900-1902)atgfs	p.M634fs	RFX3_uc010mhd.3_Frame_Shift_Del_p.M634fs|RFX3_uc003zhs.1_Frame_Shift_Del_p.M634fs	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	634					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTAAGTAAAACATATATTCGTC	0.485												
IFNA16	3449	broad.mit.edu	37	9	21216773	21216773	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:21216772_21216772GA>G	uc003zor.1	-	0	539	c.533_533TC>C	c.(532-534)tcafs	p.S178fs	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	178					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CAAGTTTGTTGAAAAAGAGAA	0.363												
VPS13A	23230	broad.mit.edu	37	9	79897181	79897181	+	Frame_Shift_Del	DEL	A	A	-	rs78046172	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:79897180_79897180TA>T	uc004akr.3	+	28	3368	c.3108_3108TA>T	c.(3106-3108)attfs	p.I1036fs	VPS13A_uc004akp.4_Frame_Shift_Del_p.I1036fs|VPS13A_uc004akq.4_Frame_Shift_Del_p.I1036fs|VPS13A_uc004aks.3_Frame_Shift_Del_p.I1036fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1036					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGATGTCATTAAAAAATTAG	0.299												
SUSD1	64420	broad.mit.edu	37	9	114825285	114825285	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:114825284_114825284TA>T	uc010mui.3	-	12	1824	c.1783_1783TA>A	c.(1783-1785)acgfs	p.T595fs	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Frame_Shift_Del_p.T595fs|SUSD1_uc010muj.3_Frame_Shift_Del_p.T595fs			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	595						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTGTGCACCGTAAAAAATTCT	0.483												
CDK5RAP2	55755	broad.mit.edu	37	9	123290085	123290085	+	Splice_Site	DEL	T	T	-	rs140244643	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:123290084_123290084CT>C	uc004bkf.3	-	10	1180	c.999_splice	c.e10+1	p.K333_splice	CDK5RAP2_uc004bkg.3_Splice_Site_p.K333_splice|CDK5RAP2_uc011lxw.2_Splice_Site|CDK5RAP2_uc011lxx.2_Splice_Site|CDK5RAP2_uc011lxy.2_Splice_Site|CDK5RAP2_uc011lxz.2_Splice_Site|CDK5RAP2_uc011lya.2_Splice_Site|CDK5RAP2_uc004bkh.1_Splice_Site_p.K333_splice|CDK5RAP2_uc004bki.3_Splice_Site_p.K132_splice	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	333					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCAGACATACCTTTTTTTCCT	0.338												
GTF3C4	9329	broad.mit.edu	37	9	135554691	135554691	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:135554690_135554690GA>G	uc010mzv.3	+	1	1942	c.1684_1684GA>G	c.(1684-1686)gaafs	p.E562fs	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	562					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AGAAGCTTTGGAAAAAAAGAT	0.348												
RXRA	6256	broad.mit.edu	37	9	137300040	137300041	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:137300039_137300040G>GC	uc004cfb.2	+	2	486_487	c.324_325G>GC	c.(322-327)aagcccfs	p.K108fs	RXRA_uc004cfc.1_Frame_Shift_Ins_p.K11fs	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	108	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	p.I107I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	AGGACATCAAGCCCCCCCTGGG	0.634												
COL5A1	1289	broad.mit.edu	37	9	137630637	137630637	+	Frame_Shift_Del	DEL	G	G	-	rs141093527		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr9:137630636_137630636CG>C	uc004cfe.3	+	10	1858	c.1476_1476CG>C	c.(1474-1476)gtcfs	p.V492fs		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	492	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGCCAAGTCGGGGACCCTG	0.572												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAG	0.353												
GATA3	2625	broad.mit.edu	37	10	8100728	8100729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:8100727_8100728T>TC	uc001ijz.3	+	2	1258_1259	c.701_702T>TC	c.(700-702)ttcfs	p.F234fs	GATA3_uc001ika.3_Frame_Shift_Ins_p.F234fs	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	234					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCGGACTCTTCCCCCCCAGCA	0.693			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""					
MYPN	84665	broad.mit.edu	37	10	69935180	69935180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:69935179_69935179GA>G	uc001jnm.4	+	12	2849	c.2664_2664GA>G	c.(2662-2664)gggfs	p.G888fs	MYPN_uc001jnn.4_Frame_Shift_Del_p.G613fs|MYPN_uc001jno.4_Frame_Shift_Del_p.G888fs|MYPN_uc009xpt.3_Frame_Shift_Del_p.G888fs|MYPN_uc010qit.2_Frame_Shift_Del_p.G594fs|MYPN_uc010qiu.2_Intron	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	888						nucleus|sarcomere	actin binding	p.G888G(2)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGACTTGGGGAAAAAAATAA	0.363												
TET1	80312	broad.mit.edu	37	10	70451314	70451314	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:70451313_70451313CA>C	uc001jok.4	+	11	6658	c.6153_6153CA>C	c.(6151-6153)cacfs	p.H2051fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	2051					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTTACCAGCACAAAAACCTAA	0.448												
PLAU	5328	broad.mit.edu	37	10	75673438	75673439	+	Frame_Shift_Ins	INS	-	-	G	rs145070893	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:75673437_75673438C>CG	uc001jwa.3	+	6	747_748	c.601_602C>CG	c.(601-603)cggfs	p.R201fs	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Frame_Shift_Ins_p.R184fs|PLAU_uc010qkx.2_Frame_Shift_Ins_p.R115fs|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Frame_Shift_Ins_p.R201fs|PLAU_uc009xrq.1_Frame_Shift_Ins_p.R165fs	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	201	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CAGGAGGCACCGGGGGGGCTCT	0.589												
MYOF	26509	broad.mit.edu	37	10	95113648	95113648	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:95113647_95113647TA>T	uc001kin.3	-	32	3527	c.3404_splice	c.e32-1	p.R1135_splice	MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1135	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTAGACTCCTAAAAAAACAG	0.343												
CPXM2	119587	broad.mit.edu	37	10	125528209	125528209	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr10:125528208_125528208GC>G	uc001lhk.1	-	8	1458	c.1133_1133GC>C	c.(1132-1134)gccfs	p.A378fs	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	378					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATTGCCGTGGGCCCCCGCGAT	0.587												
KRTAP5-1	387264	broad.mit.edu	37	11	1606223	1606224	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:1606222_1606223C>CT	uc001ltu.1	-	0	291_292	c.257_258G>AG	c.(256-258)aagfs	p.K86fs	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	86	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCCCCCCTTGCAGCCTCC	0.668												
SOX6	55553	broad.mit.edu	37	11	16208405	16208407	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:16208404_16208406TTCA>T	uc001mme.3	-	4	703_705	c.670_672TGAA>A	c.(670-672)gaa>A	p.E224del	SOX6_uc001mmd.3_In_Frame_Del_p.E214del|SOX6_uc001mmf.3_In_Frame_Del_p.E211del|SOX6_uc001mmg.3_In_Frame_Del_p.E211del	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	211	Gln-rich.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.Q223K(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GTTTTTTCTGTTCATCATGCGCT	0.512												
TPH1	7166	broad.mit.edu	37	11	18057576	18057577	+	Frame_Shift_Ins	INS	-	-	A	rs146455709	byFrequency	TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:18057575_18057576G>GA	uc001mnp.2	-	1	257_258	c.231_232C>TC	c.(229-234)tttcatfs	p.F77fs	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	77	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.H78D(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTCAGCAGATGAAAAATATCAT	0.322												
GLYAT	10249	broad.mit.edu	37	11	58477307	58477308	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:58477306_58477307A>AT	uc001nnb.3	-	5	978_979	c.823_824T>AT	c.(823-825)atgfs	p.M275fs		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	275					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGTGTAACTCATTTTTTGCATA	0.455												
MARK2	2011	broad.mit.edu	37	11	63672263	63672263	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:63672262_63672262GC>G	uc001nxw.3	+	15	2260	c.1681_1681GC>G	c.(1681-1683)gccfs	p.A561fs	MARK2_uc001nxv.4_Frame_Shift_Del_p.A506fs|MARK2_uc001nxx.3_Frame_Shift_Del_p.A507fs|MARK2_uc001nxy.3_Frame_Shift_Del_p.A506fs|MARK2_uc001nxz.4_Frame_Shift_Del_p.A527fs|MARK2_uc009yoy.3_Frame_Shift_Del_p.A481fs	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	561					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACAGCACAGCCCCCCAGCG	0.647												
LTBP3	4054	broad.mit.edu	37	11	65314283	65314283	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:65314282_65314282GC>G	uc001oej.3	-	14	2486	c.2217_2217GC>C	c.(2215-2217)ggcfs	p.G739fs	LTBP3_uc001oef.3_5'Flank|LTBP3_uc001oeg.3_5'Flank|LTBP3_uc001oeh.3_Frame_Shift_Del_p.G169fs|LTBP3_uc010roi.2_Frame_Shift_Del_p.G622fs|LTBP3_uc001oei.3_Frame_Shift_Del_p.G739fs|LTBP3_uc010roj.2_Frame_Shift_Del_p.G440fs|LTBP3_uc010rok.1_Frame_Shift_Del_p.G650fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	739	Cys-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GACAGGCCCCGCCCCCCTGGC	0.726												
ODZ4	26011	broad.mit.edu	37	11	78380835	78380836	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:78380834_78380835A>AG	uc001ozl.4	-	31	7018_7019	c.6555_6556T>CT	c.(6553-6558)ccctacfs	p.P2185fs	ODZ4_uc001ozk.4_Frame_Shift_Ins_p.P410fs	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2185					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTATTGGCGTAGGGTCCTACCT	0.525												
CWF19L2	143884	broad.mit.edu	37	11	107299560	107299560	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:107299559_107299559CT>C	uc010rvp.2	-	7	1429	c.1399_1399AG>G	c.(1399-1401)gaafs	p.E467fs	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	467							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CGTAGATGTTCTTTTTTTGGA	0.363												
DDX6	1656	broad.mit.edu	37	11	118629614	118629615	+	Splice_Site	INS	-	-	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:118629613_118629614T>TG	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)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL							
BCL9L	283149	broad.mit.edu	37	11	118770652	118770653	+	Frame_Shift_Ins	INS	-	-	G	rs139987150		TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:118770651_118770652T>TG	uc001pug.3	-	6	4345_4346	c.3380_3381A>CA	c.(3379-3381)ccafs	p.P1127fs	BCL9L_uc009zal.3_Frame_Shift_Ins_p.P1122fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1127	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703												
ARHGEF12	23365	broad.mit.edu	37	11	120308057	120308057	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr11:120308056_120308056GA>G	uc001pxl.2	+	11	1299	c.964_964GA>G	c.(964-966)gaafs	p.E322fs	ARHGEF12_uc009zat.3_Frame_Shift_Del_p.E303fs|ARHGEF12_uc010rzn.1_Frame_Shift_Del_p.E219fs|ARHGEF12_uc009zau.1_Frame_Shift_Del_p.E219fs|ARHGEF12_uc021qrm.1_Frame_Shift_Del_p.E303fs	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	322					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTATCTAGAGGAAAACCCAGA	0.378			T	MLL	AML							
WNK1	65125	broad.mit.edu	37	12	1017928	1017928	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:1017927_1017927AC>A	uc021qss.1	+	27	8541	c.7898_7898AC>A	c.(7897-7899)aacfs	p.N2633fs	WNK1_uc001qio.4_Frame_Shift_Del_p.N2373fs|WNK1_uc021qst.1_Frame_Shift_Del_p.N2625fs|WNK1_uc001qip.4_Frame_Shift_Del_p.N2125fs|WNK1_uc001qir.4_Frame_Shift_Del_p.N1546fs	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	2373					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCATCAGCAACCCCCCAGGC	0.562												
KCNA5	3741	broad.mit.edu	37	12	5154457	5154457	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:5154456_5154456AG>A	uc001qni.3	+	0	1372	c.1143_1143AG>A	c.(1141-1143)ccafs	p.P381fs		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	381						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGCAGCAGCCAGGGGGTGGAG	0.622												
GPR162	27239	broad.mit.edu	37	12	6933721	6933721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:6933720_6933720TG>T	uc001qqw.1	+	1	1191	c.656_656TG>T	c.(655-657)gtgfs	p.V219fs	GPR162_uc010sfn.1_Frame_Shift_Del_p.V219fs|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'UTR	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	219						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GCCCGGAGAGTGGGGGGTGGT	0.657												
PLCZ1	89869	broad.mit.edu	37	12	18858252	18858253	+	Splice_Site	INS	-	-	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:18858251_18858252T>TA	uc021qvx.1	-	7	906	c.715_splice	c.e7-1	p.T239_splice	PLCZ1_uc001rdv.4_Splice_Site_p.T135_splice|PLCZ1_uc001rdw.4_Splice_Site|PLCZ1_uc001rdu.1_Intron|PLCZ1_uc009zil.1_Splice_Site	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	239	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GTCAGATGTCTAAAAAAGTAAC	0.347												
PLEKHA5	54477	broad.mit.edu	37	12	19410381	19410382	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:19410380_19410381C>CA	uc001reb.3	+	5	554_555	c.446_447C>CA	c.(445-447)tcafs	p.S149fs	PLEKHA5_uc010sie.2_Frame_Shift_Ins_p.S149fs|PLEKHA5_uc001rea.3_Frame_Shift_Ins_p.S149fs|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Frame_Shift_Ins_p.S41fs|PLEKHA5_uc010sih.1_Frame_Shift_Ins_p.S41fs|PLEKHA5_uc021qvy.1_Frame_Shift_Ins_p.S41fs	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	149							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCACGAGCTTCAAAAAAAGTTC	0.322												
ZC3H10	84872	broad.mit.edu	37	12	56514991	56514991	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:56514990_56514990GC>G	uc001sjp.1	+	2	833	c.644_644GC>G	c.(643-645)tgcfs	p.C215fs	ZC3H10_uc021qyw.1_Frame_Shift_Del_p.C215fs	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	215							nucleic acid binding|zinc ion binding	p.C214C(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GGTGGATGCTGCCCCCCTGAT	0.557												
SLC16A7	9194	broad.mit.edu	37	12	60169112	60169112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:60169111_60169111AT>A	uc001sqs.3	+	4	1334	c.1035_1035AT>A	c.(1033-1035)gtafs	p.V345fs	SLC16A7_uc001sqt.3_Frame_Shift_Del_p.V345fs|SLC16A7_uc001squ.3_Frame_Shift_Del_p.V345fs|SLC16A7_uc009zqi.3_Frame_Shift_Del_p.V246fs|SLC16A7_uc010ssi.2_Frame_Shift_Del_p.V246fs	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	345						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TATATGCTGTATTTTTTGGCC	0.458												
MYF6	4618	broad.mit.edu	37	12	81101691	81101691	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:81101690_81101690GC>G	uc001szf.2	+	0	283	c.192_192GC>G	c.(190-192)gcgfs	p.A64fs		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	64					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.A64V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						ATGTCCTGGCGCCCCCGGGCC	0.637												
C12orf51	283450	broad.mit.edu	37	12	112600860	112600861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr12:112600859_112600860T>TG	uc021reb.1	-	74	13100_13101	c.12704_12705A>CA	c.(12703-12705)ccafs	p.P4235fs		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTGTGCCATCTGGGGGGGCGAT	0.629												
CPB2	1361	broad.mit.edu	37	13	46658416	46658416	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:46658415_46658415CA>C	uc001vaw.3	-	2	281	c.214_214TG>G	c.(214-216)gtafs	p.V72fs	AK124928_uc001vau.1_Intron|AK124928_uc001vav.1_Intron|CPB2_uc001vax.3_Frame_Shift_Del_p.V72fs	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	Homo sapiens carboxypeptidase B2 (plasma) (CPB2), transcript variant 1, mRNA.	72					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GATGCATTTACAAAAAAATGG	0.358												
DACH1	1602	broad.mit.edu	37	13	72049984	72049984	+	Splice_Site	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:72049983_72049983TA>T	uc021rkj.1	-	9	2300	c.1877_splice	c.e9-1	p.A626_splice	DACH1_uc021rkk.1_Splice_Site_p.A478_splice|DACH1_uc021rkl.1_Splice_Site_p.A424_splice	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	676	DACHbox-C.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GAACTATGGCTAAAAAAGAGT	0.308												
TM9SF2	9375	broad.mit.edu	37	13	100191740	100191740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr13:100191739_100191739GC>G	uc001voj.1	+	6	889	c.756_756GC>G	c.(754-756)gggfs	p.G252fs	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	252					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)					ACTGCTCAGGGCCCCCCATGG	0.388												
CPNE6	9362	broad.mit.edu	37	14	24546806	24546807	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:24546805_24546806G>GC	uc010tnv.2	+	16	1851_1852	c.1705_1706G>GC	c.(1705-1707)gccfs	p.A569fs	CPNE6_uc001wlm.3_Frame_Shift_Ins_p.A339fs|CPNE6_uc001wll.3_Frame_Shift_Ins_p.A514fs|CPNE6_uc001wln.3_3'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	514					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		ACCCTAGGCTGCCCCCTCTGCA	0.658												
NPAS3	64067	broad.mit.edu	37	14	34243648	34243648	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:34243647_34243647TC>T	uc001wru.3	+	7	1021	c.957_957TC>T	c.(955-957)cctfs	p.P319fs	NPAS3_uc001wrs.3_Frame_Shift_Del_p.P306fs|NPAS3_uc001wrv.3_Frame_Shift_Del_p.P289fs|NPAS3_uc001wrt.3_Frame_Shift_Del_p.P287fs	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	319	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.S319I(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATGCCTTGCCTCCCCCTACGA	0.493												
SEC23A	10484	broad.mit.edu	37	14	39514487	39514487	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:39514486_39514486TA>T	uc001wup.1	-	15	2003	c.1780_1780TA>A	c.(1780-1782)aacfs	p.N594fs	SEC23A_uc010tqa.1_Frame_Shift_Del_p.N480fs|SEC23A_uc010tqb.1_Frame_Shift_Del_p.N565fs	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	594					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GGACTATTGTTAAAAACTTGC	0.323												
PELI2	57161	broad.mit.edu	37	14	56757067	56757067	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:56757066_56757066AG>A	uc001xch.3	+	4	874	c.588_588AG>A	c.(586-588)cgafs	p.R196fs		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	196					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TGCATCCACGAGGGGGCTTCA	0.587												
SYNE2	23224	broad.mit.edu	37	14	64564782	64564784	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:64564781_64564783CAAG>C	uc001xgl.3	+	61	12453_12455	c.12223_12225CAAG>C	c.(12223-12225)caa>C	p.Q4075del	SYNE2_uc001xgm.3_In_Frame_Del_p.Q4075del|SYNE2_uc021ruh.1_In_Frame_Del_p.Q4108del|SYNE2_uc010apy.3_In_Frame_Del_p.Q460del|SYNE2_uc010apx.1_In_Frame_Del_p.Q467del|SYNE2_uc010apz.1_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4075					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGCAAGAACAAGAAGGAGTAG	0.468												
FOXN3	1112	broad.mit.edu	37	14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:89878533_89878533TG>T	uc001xxo.4	-	1	425	c.288_288CA>A	c.(286-288)ccafs	p.P96fs	FOXN3_uc001xxn.4_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.3_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	96					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCAGGGGATGGGGGGGTGT	0.587												
DYNC1H1	1778	broad.mit.edu	37	14	102476416	102476416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:102476415_102476415GT>G	uc001yks.2	+	29	6377	c.6213_6213GT>G	c.(6211-6213)ccgfs	p.P2071fs		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2071	AAA 1 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAATCGTCCCGTTTTTTAAGT	0.418												
PPP1R13B	23368	broad.mit.edu	37	14	104206432	104206432	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr14:104206431_104206431AG>A	uc001yof.1	-	11	2605	c.2322_2322CT>T	c.(2320-2322)cctfs	p.P774fs	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Frame_Shift_Del_p.P641fs	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	774	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGGGCTGGGCAGGGGGGAGCT	0.597												
TRPM1	4308	broad.mit.edu	37	15	31329989	31329989	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:31329988_31329988GT>G	uc021sia.1	-	18	2862	c.2548_2548AC>C	c.(2548-2550)cagfs	p.Q850fs	TRPM1_uc010azy.3_Frame_Shift_Del_p.Q718fs|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Frame_Shift_Del_p.Q833fs|TRPM1_uc001zfm.3_Frame_Shift_Del_p.Q811fs	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	811					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATACTTCTCTGTTTTTTGTGC	0.468												
C15orf55	256646	broad.mit.edu	37	15	34647969	34647969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:34647968_34647968TC>T	uc010ucc.2	+	7	2141	c.1759_1759TC>T	c.(1759-1761)tccfs	p.S587fs	C15orf55_uc010ucd.2_Frame_Shift_Del_p.S577fs|C15orf55_uc001zif.3_Frame_Shift_Del_p.S559fs	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	559						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CACTCTGCCATCCCCCAGCAG	0.582			T	"""BRD3, BRD4"""	lethal midline carcinoma							
CDAN1	146059	broad.mit.edu	37	15	43023871	43023871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:43023870_43023870TG>T	uc001zql.3	-	10	1804	c.1687_1687CA>A	c.(1687-1689)accfs	p.T563fs	CDAN1_uc001zqj.3_5'Flank|CDAN1_uc001zqk.3_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	563						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		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)		CCTGGGAAGGTGGGGGGTGGG	0.607												
PIGB	9488	broad.mit.edu	37	15	55621922	55621923	+	Splice_Site	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr15:55621921_55621922G>GT	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCCA	0.342												
CRAMP1L	57585	broad.mit.edu	37	16	1706239	1706239	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:1706238_1706238GC>G	uc010uvh.2	+	8	1480	c.1480_1480GC>G	c.(1480-1482)gccfs	p.A494fs	CRAMP1L_uc002cmf.3_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	494						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCCGAAAGCGCCCCCGGGGA	0.697												
OTOA	146183	broad.mit.edu	37	16	21721321	21721321	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:21721320_21721320TC>T	uc002djh.3	+	11	1217	c.1216_1216TC>T	c.(1216-1218)tccfs	p.S406fs	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Frame_Shift_Del_p.S327fs|OTOA_uc002dji.3_Frame_Shift_Del_p.S82fs|OTOA_uc010vbk.2_Frame_Shift_Del_p.S54fs	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	420					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGAATCCCTCTCCCCCGAGGC	0.552												
SETD1A	9739	broad.mit.edu	37	16	30977317	30977318	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:30977316_30977317G>GC	uc002ead.1	+	7	2800_2801	c.2114_2115G>GC	c.(2113-2115)ggcfs	p.G705fs		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCTCAGCTGGCCCCCCCGGTG	0.644												
BCAR1	9564	broad.mit.edu	37	16	75263554	75263556	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:75263553_75263555CAGG>C	uc002fdv.3	-	6	2613_2615	c.2467_2469CCTG>G	c.(2467-2469)ctg>G	p.L823del	BCAR1_uc002fdt.3_In_Frame_Del_p.L276del|BCAR1_uc002fdu.3_In_Frame_Del_p.L613del|BCAR1_uc010vna.2_In_Frame_Del_p.L821del|BCAR1_uc010cgu.3_In_Frame_Del_p.L841del|BCAR1_uc010vnb.2_In_Frame_Del_p.L869del|BCAR1_uc002fdw.3_In_Frame_Del_p.L823del|BCAR1_uc010vnc.2_In_Frame_Del_p.L675del|BCAR1_uc010vnd.2_In_Frame_Del_p.L841del|BCAR1_uc002fdx.3_In_Frame_Del_p.L841del	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	823					B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CGATGCCGCGCAGGAGGTCGCAC	0.655												
KIAA0182	23199	broad.mit.edu	37	16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688												
B9D1	27077	broad.mit.edu	37	17	19263639	19263639	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:19263638_19263638TG>T	uc010vys.2	-	1	291	c.279_279CA>A	c.(277-279)ccafs	p.P93fs	B9D1_uc010cqm.1_Frame_Shift_Del_p.P18fs|B9D1_uc002gvk.4_Frame_Shift_Del_p.T43fs|B9D1_uc010vyr.2_Frame_Shift_Del_p.P62fs|B9D1_uc010cqn.2_Frame_Shift_Del_p.P93fs	NM_001243473	NP_001230402	Q9UPM9	B9D1_HUMAN	Homo sapiens B9 protein domain 1 (B9D1), transcript variant 1, mRNA.	0	B9.				cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTACCGCTGTGGGGGCCCAG	0.498												
ALDH3A1	218	broad.mit.edu	37	17	19646567	19646567	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:19646566_19646566TG>T	uc002gwk.3	-	1	386	c.123_123CA>A	c.(121-123)ccafs	p.P41fs	ALDH3A1_uc010cqu.3_Frame_Shift_Del_p.M125fs|ALDH3A1_uc010vzd.2_Frame_Shift_Del_p.M125fs|ALDH3A1_uc002gwj.3_Frame_Shift_Del_p.M125fs|ALDH3A1_uc010cqv.3_Frame_Shift_Del_p.M125fs|ALDH3A1_uc002gwl.1_Frame_Shift_Del_p.M52fs			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	329					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GCGCCCACCATGGGCTGGATG	0.652												
NF1	4763	broad.mit.edu	37	17	29677244	29677244	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:29677243_29677243TA>T	uc002hgg.3	+	49	7747	c.7364_7364TA>T	c.(7363-7365)ctafs	p.L2455fs	NF1_uc002hgh.3_Frame_Shift_Del_p.L2434fs|NF1_uc010cso.3_Frame_Shift_Del_p.L643fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2455					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGCTGCAGCCTAAAACATAGA	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
NF1	4763	broad.mit.edu	37	17	29683984	29683985	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:29683983_29683984CAG>C	uc002hgg.3	+	52	8127_8128	c.7744_7745CAG>C	c.(7744-7746)cagfs	p.Q2582fs	NF1_uc002hgh.3_Frame_Shift_Del_p.Q2561fs|NF1_uc010cso.3_Frame_Shift_Del_p.Q770fs|NF1_uc010wbt.1_Frame_Shift_Del_p.Q60fs|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2582					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCAGAAACTCAGAGGATTTCC	0.371			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
TMEM99	147184	broad.mit.edu	37	17	38991373	38991373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:38991372_38991372AT>A	uc021txc.1	+	2	903	c.604_604AT>A	c.(604-606)attfs	p.I202fs	TMEM99_uc002hvj.1_Frame_Shift_Del_p.I202fs|TMEM99_uc021txd.1_Frame_Shift_Del_p.I202fs|TMEM99_uc021txe.1_Frame_Shift_Del_p.I202fs	NM_001195387	NP_001182316	Q8N816	TMM99_HUMAN	Homo sapiens transmembrane protein 99 (TMEM99), transcript variant 3, mRNA.	202						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				AATATTGGGTATTTttttgtt	0.368												
WNK4	65266	broad.mit.edu	37	17	40939467	40939467	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:40939466_40939466TC>T	uc002ibj.3	+	6	1715	c.1647_1647TC>T	c.(1645-1647)ggtfs	p.G549fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.G213fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.G321fs|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	549					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGGCCCCCGGTCCCCCCAGTG	0.612												
C17orf57	124989	broad.mit.edu	37	17	45412715	45412716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:45412714_45412715T>TA	uc002iln.3	+	4	614_615	c.183_184T>TA	c.(181-186)tataaafs	p.Y61fs	ITGB3_uc010wkr.1_Non-coding_Transcript|C17orf57_uc002ilm.3_Frame_Shift_Ins_p.Y61fs|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Frame_Shift_Ins_p.Y61fs	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	61							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						GCCCAGAATATAAAAAAATGTA	0.312												
RECQL5	9400	broad.mit.edu	37	17	73625157	73625158	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:73625156_73625157CTG>C	uc010dgl.3	-	15	2555_2556	c.2346_2347CAG>G	c.(2344-2349)ccagagfs	p.P782fs	RECQL5_uc010dgk.3_Frame_Shift_Del_p.P755fs|RECQL5_uc002jot.4_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	782					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTTCTGCCTCTGGGGCTGATG	0.639								Other identified genes with known or suspected DNA repair function				
RECQL5	9400	broad.mit.edu	37	17	73658971	73658972	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr17:73658970_73658971C>CT	uc010dgl.3	-	3	568_569	c.359_360G>AG	c.(358-360)aagfs	p.K120fs	RECQL5_uc010dgk.3_Frame_Shift_Ins_p.K93fs|RECQL5_uc002joz.4_Frame_Shift_Ins_p.K120fs|RECQL5_uc002jpa.4_Frame_Shift_Ins_p.K120fs|RECQL5_uc002jpb.2_Frame_Shift_Ins_p.K120fs	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	120	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGTCTGGGGCTTTTCTCGCTC	0.550								Other identified genes with known or suspected DNA repair function				
CEP76	79959	broad.mit.edu	37	18	12678201	12678201	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:12678200_12678200AG>A	uc002kri.3	-	9	1687	c.1531_1531CT>T	c.(1531-1533)tttfs	p.F511fs	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Frame_Shift_Del_p.F333fs|CEP76_uc010wzz.2_Frame_Shift_Del_p.F436fs	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	511					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	p.P510P(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGAGGTGGAAAGGGAGGAAGG	0.443												
CEP192	55125	broad.mit.edu	37	18	13049146	13049146	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:13049145_13049145TA>T	uc010xac.2	+	15	2435	c.2355_2355TA>T	c.(2353-2355)cttfs	p.L785fs	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Frame_Shift_Del_p.L310fs|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krs.1_Frame_Shift_Del_p.L526fs	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	380										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGAAATACCTTAAAAAAACAG	0.328												
RNMT	8731	broad.mit.edu	37	18	13746253	13746253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:13746252_13746252CA>C	uc002ksk.1	+	7	1240	c.1173_1173CA>C	c.(1171-1173)tacfs	p.Y391fs	RNMT_uc002ksl.1_Frame_Shift_Del_p.Y391fs|RNMT_uc002ksm.1_Frame_Shift_Del_p.Y391fs|RNMT_uc010dlk.2_Frame_Shift_Del_p.Y391fs|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	391					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AACTAGTCTACAAAAAAACAT	0.303												
SYT4	6860	broad.mit.edu	37	18	40857246	40857246	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:40857245_40857245AT>A	uc002law.3	-	0	371	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Frame_Shift_Del_p.M1fs	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	1						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GATCGGAGCCATTTTTTACTG	0.493												
SETBP1	26040	broad.mit.edu	37	18	42533200	42533201	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:42533199_42533200T>TA	uc010dni.3	+	3	4190_4191	c.3894_3895T>TA	c.(3892-3897)agtaaafs	p.S1298fs		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1298						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGAGTGGGAGTAAAAGGAGGAG	0.510									Schinzel-Giedion syndrome			
ALPK2	115701	broad.mit.edu	37	18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr18:56246940_56246940TA>T	uc002lhj.4	-	3	1282	c.1068_1068TA>A	c.(1066-1068)ttafs	p.L356fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	356							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CGCTTTCTAATAAAAAAACAT	0.483											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
REXO1	57455	broad.mit.edu	37	19	1828553	1828553	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:1828552_1828552TC>T	uc002lua.4	-	1	331	c.236_236GA>A	c.(235-237)gagfs	p.E79fs	REXO1_uc010dsr.1_Frame_Shift_Del_p.E33fs	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	79						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GCGCGGCTCCTCCCCCAGGCC	0.682												
SAFB	6294	broad.mit.edu	37	19	5667115	5667115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:5667114_5667114TG>T	uc002mcg.3	+	17	2563	c.2392_2392TG>T	c.(2392-2394)tggfs	p.W798fs	SAFB_uc002mcf.3_Frame_Shift_Del_p.W798fs|SAFB_uc002mce.4_Frame_Shift_Del_p.W797fs|SAFB_uc010xis.2_Frame_Shift_Del_p.W729fs|SAFB_uc010xit.2_Frame_Shift_Del_p.W640fs|SAFB_uc010xir.2_Frame_Shift_Del_p.W797fs|SAFB_uc010xiu.2_Frame_Shift_Del_p.W597fs	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	798	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CCGCGATGGCTGGGGGGGCTA	0.642												
VAV1	7409	broad.mit.edu	37	19	6832176	6832178	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:6832175_6832177TGAA>T	uc002mfu.1	+	14	1569_1571	c.1472_1474TGAA>T	c.(1471-1476)ttgaag>tTag	p.K494del	VAV1_uc010xjh.1_In_Frame_Del_p.K462del|VAV1_uc010dva.1_In_Frame_Del_p.K494del|VAV1_uc002mfv.1_In_Frame_Del_p.K439del	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	494	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ACAAGAGAATTGAAGAAGAAGTG	0.547												
EIF3G	8666	broad.mit.edu	37	19	10227489	10227491	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:10227488_10227490TCTC>T	uc002mnd.3	-	6	645_647	c.581_583GAGA>A	c.(580-585)gagaag>gAag	p.K195del		NM_003755	NP_003746	O75821	EIF3G_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA.	195						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCCGGCAGCTTCTCCTTCTCGCC	0.655												
CACNA1A	773	broad.mit.edu	37	19	13395983	13395984	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:13395982_13395983C>CT	uc002mwy.3	-	20	3827_3828	c.3591_3592G>AG	c.(3589-3594)aaagagfs	p.K1197fs	CACNA1A_uc010dzc.2_Frame_Shift_Ins_p.K723fs|CACNA1A_uc010xnd.2_Frame_Shift_Ins_p.K1200fs|CACNA1A_uc021ups.1_Frame_Shift_Ins_p.K1197fs|CACNA1A_uc010xne.2_Frame_Shift_Ins_p.K1200fs|CACNA1A_uc010dze.2_Frame_Shift_Ins_p.K1197fs|CACNA1A_uc021upt.1_Frame_Shift_Ins_p.K1198fs	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1198					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)	ttctcttcctcttTTTTTGGCA	0.540												
ZNF682	91120	broad.mit.edu	37	19	20116856	20116856	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:20116855_20116855AT>A	uc002noq.3	-	3	1579	c.1456_1456AT>T	c.(1456-1458)tgtfs	p.C486fs	ZNF682_uc002noo.3_Frame_Shift_Del_p.C454fs|ZNF682_uc002nop.3_Frame_Shift_Del_p.C454fs|ZNF682_uc010eck.3_Frame_Shift_Del_p.C410fs	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GCTTCCCCACATTTTTTATAC	0.333												
C19orf40	91442	broad.mit.edu	37	19	33464997	33464998	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:33464996_33464997G>GA	uc002nud.4	+	3	392_393	c.274_275G>GA	c.(274-276)gaafs	p.E92fs	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	92					DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding	p.E92Q(4)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGTAGTCGTTGAAAAAACCCGG	0.416								Direct reversal of damage				
ZNF570	148268	broad.mit.edu	37	19	37975122	37975122	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:37975121_37975121TA>T	uc010efl.1	+	5	884	c.765_765TA>T	c.(763-765)tttfs	p.F255fs	ZNF570_uc002ogk.1_Frame_Shift_Del_p.F199fs|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAAGCTTTAAAAAAAATT	0.368												
ZFP36	7538	broad.mit.edu	37	19	39898575	39898575	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:39898574_39898574AC>A	uc002olh.1	+	1	274	c.216_216AC>A	c.(214-216)ccafs	p.P72fs		NM_003407	NP_003398	P26651	TTP_HUMAN	Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.	72					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGTGCCCCCACCCCCTGGCT	0.721												
TIMM50	92609	broad.mit.edu	37	19	39977066	39977066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:39977065_39977065AC>A	uc002olu.1	+	7	1068	c.935_935AC>A	c.(934-936)gacfs	p.D312fs	TIMM50_uc002olt.1_Non-coding_Transcript|TIMM50_uc002olv.1_Frame_Shift_Del_p.D11fs	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	209					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATAGTGTGGACCCCCATGGC	0.587												
HSD17B14	51171	broad.mit.edu	37	19	49316984	49316985	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:49316983_49316984G>GC	uc002pkv.1	-	6	744_745	c.478_479C>GC	c.(478-480)gcafs	p.A160fs	BCAT2_uc002pkq.4_5'Flank|BCAT2_uc002pks.3_5'Flank|BCAT2_uc002pkr.3_5'Flank|BCAT2_uc002pkt.3_5'Flank|BCAT2_uc010emh.2_5'Flank|BCAT2_uc010emi.2_5'Flank|BCAT2_uc010emj.2_5'Flank|HSD17B14_uc010emk.1_Frame_Shift_Ins_p.A160fs	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 14 (HSD17B14), mRNA.	160					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GGCTGTTACTGCCCCCTGCAGG	0.604												
U2AF2	11338	broad.mit.edu	37	19	56173906	56173906	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr19:56173905_56173905TG>T	uc002qlu.3	+	5	1579	c.524_524TG>T	c.(523-525)ctgfs	p.L175fs	U2AF2_uc002qlt.3_Frame_Shift_Del_p.L175fs	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	175	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGATGCGCCTGGGGGGGCTG	0.602												
RNF24	11237	broad.mit.edu	37	20	3914747	3914747	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:3914746_3914746AG>A	uc002wkj.2	-	5	551	c.411_411CT>T	c.(409-411)cctfs	p.P137fs	RNF24_uc002wkh.2_Frame_Shift_Del_p.P137fs|RNF24_uc002wki.2_Frame_Shift_Del_p.P158fs	NM_001134337	NP_009150	Q9Y225	RNF24_HUMAN	Homo sapiens ring finger protein 24 (RNF24), transcript variant 2, mRNA.	137						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						GGGGCCCCTGAGGGGGTCCAC	0.557												
RALGAPA2	57186	broad.mit.edu	37	20	20501723	20501724	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:20501722_20501723C>CCA	uc002wrz.3	-	30	4065_4066	c.3922_3923G>TGG	c.(3922-3924)ggcfs	p.G1308fs	RALGAPA2_uc002wry.3_Frame_Shift_Ins_p.G923fs|RALGAPA2_uc010zsg.2_Frame_Shift_Ins_p.G756fs|RALGAPA2_uc002wsa.1_Frame_Shift_Ins_p.G80fs	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1308					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CGTGCTTGAGCCACACACACAG	0.530												
PDRG1	81572	broad.mit.edu	37	20	30533657	30533657	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:30533656_30533656AG>A	uc002wxd.3	-	4	475	c.356_356CT>T	c.(355-357)ctcfs	p.L119fs		NM_030815	NP_110442	Q9NUG6	PDRG1_HUMAN	Homo sapiens p53 and DNA-damage regulated 1 (PDRG1), mRNA.	119					protein folding	prefoldin complex	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATCCTGGTTGAGGGGGTTCAA	0.557												
ZHX3	23051	broad.mit.edu	37	20	39832436	39832436	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:39832435_39832435CT>C	uc010ggg.1	-	0	1272	c.1122_1122AG>G	c.(1120-1122)aagfs	p.K374fs	ZHX3_uc002xjr.1_Frame_Shift_Del_p.K374fs|ZHX3_uc002xjs.1_Frame_Shift_Del_p.K374fs|ZHX3_uc002xjt.1_Frame_Shift_Del_p.K374fs|ZHX3_uc002xju.1_Frame_Shift_Del_p.K374fs|ZHX3_uc002xjv.1_Frame_Shift_Del_p.K374fs|ZHX3_uc002xjw.1_Frame_Shift_Del_p.K374fs	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	374	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TATTGAACATCTTTTTCCGGG	0.522												
SLC35C2	51006	broad.mit.edu	37	20	44987182	44987182	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:44987181_44987181CG>C	uc010zxp.2	-	2	145	c.52_52CG>G	c.(52-54)gctfs	p.A18fs	SLC35C2_uc002xro.3_5'UTR|SLC35C2_uc002xrp.3_5'UTR|SLC35C2_uc002xrq.3_5'UTR|SLC35C2_uc002xrr.3_5'UTR|SLC35C2_uc010zxn.2_5'UTR|SLC35C2_uc010zxo.2_5'UTR	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	0					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CCTGAGTCAGCGGGGGCAGGC	0.617												
PMEPA1	56937	broad.mit.edu	37	20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:56227348_56227348TG>T	uc002xyq.3	-	3	1018	c.625_625CA>A	c.(625-627)agcfs	p.S209fs	PMEPA1_uc002xyr.3_Frame_Shift_Del_p.S159fs|PMEPA1_uc002xys.3_Frame_Shift_Del_p.S174fs|PMEPA1_uc002xyt.3_Frame_Shift_Del_p.S159fs	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	209					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAG	0.687												
SYCP2	10388	broad.mit.edu	37	20	58490593	58490593	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:58490592_58490592AT>A	uc002yaz.3	-	7	666	c.527_527AT>T	c.(526-528)atgfs	p.M176fs	SYCP2_uc010gju.1_Frame_Shift_Del_p.M77fs	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	176					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CATAGCATTCATTTTTTTTAT	0.284												
ZGPAT	84619	broad.mit.edu	37	20	62365019	62365020	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:62365018_62365019G>GC	uc002ygk.3	+	3	987_988	c.798_799G>GC	c.(796-801)ctgcccfs	p.L266fs	ZGPAT_uc002ygi.2_Frame_Shift_Ins_p.L266fs|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Frame_Shift_Ins_p.L266fs|ZGPAT_uc002ygm.3_Frame_Shift_Ins_p.L266fs|ZGPAT_uc002ygj.2_Frame_Shift_Ins_p.L266fs|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	266					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ACGGCATCCTGCCCCCACTGCG	0.634												
ZBTB46	140685	broad.mit.edu	37	20	62407046	62407047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr20:62407045_62407046G>GC	uc002ygv.2	-	2	1408_1409	c.1207_1208C>GC	c.(1207-1209)gccfs	p.A403fs	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CAGCGAGTGGGCCCCTCTGGGC	0.649											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF295	49854	broad.mit.edu	37	21	43411514	43411514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr21:43411513_43411513TG>T	uc021wjo.1	-	0	2692	c.2692_2692CA>A	c.(2692-2694)aaafs	p.K898fs	ZNF295_uc002yzz.4_Frame_Shift_Del_p.K697fs|ZNF295_uc002zab.4_Frame_Shift_Del_p.K898fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.K898fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.K898fs	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	898					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						CCCGCTTCTTTGGGGGCTGTG	0.562												
HIC2	23119	broad.mit.edu	37	22	21799865	21799865	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:21799864_21799864TG>T	uc002zur.4	+	2	910	c.680_680TG>T	c.(679-681)ctgfs	p.L227fs	HIC2_uc002zus.4_Frame_Shift_Del_p.L227fs	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	227					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAGGCGGGTCTGGGGGGCTGC	0.662												
SYN3	8224	broad.mit.edu	37	22	33402468	33402468	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:33402467_33402467TA>T	uc003amx.3	-	0	343	c.181_181TA>A	c.(181-183)agcfs	p.S61fs	SYN3_uc003amy.3_Frame_Shift_Del_p.S61fs|SYN3_uc003amz.3_Frame_Shift_Del_p.S61fs	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	61	B; linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GAGAGGGAGCTAAAAAGGCTG	0.627												
DMC1	11144	broad.mit.edu	37	22	38934340	38934340	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:38934339_38934339AT>A	uc003avz.1	-	10	911	c.736_736AT>T	c.(736-738)ttgfs	p.L246fs	DMC1_uc011anv.1_Frame_Shift_Del_p.L191fs	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	246					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					ATCTGGGCCAATTTTTGCTGC	0.383								Homologous recombination				
SBF1	6305	broad.mit.edu	37	22	50900780	50900782	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chr22:50900779_50900781TCTC>T	uc003blh.3	-	18	2444_2446	c.2249_2251GAGA>A	c.(2248-2253)gagagc>gAgc	p.S751del	SBF1_uc011arx.2_In_Frame_Del_p.S415del|SBF1_uc003bli.2_In_Frame_Del_p.S752del	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	751					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AACACCGTGCTCTCCTCCTTCTG	0.635												
USP9X	8239	broad.mit.edu	37	X	41055854	41055855	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:41055853_41055854AAG>A	uc004dfb.3	+	27	4728_4729	c.4095_4096AAG>A	c.(4093-4098)gcaagafs	p.A1365fs	USP9X_uc004dfc.3_Frame_Shift_Del_p.A1365fs	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1365					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGAGCACAGCAAGAGAGAGAGC	0.361												
RBM10	8241	broad.mit.edu	37	X	47045497	47045501	+	Frame_Shift_Del	DEL	AGAGA	AGAGA	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:47045496_47045500CAGAGA>C	uc004dhi.3	+	21	2887_2891	c.2658_2662CAGAGA>C	c.(2656-2664)cgcagagaafs	p.R886fs	RBM10_uc004dhf.3_Frame_Shift_Del_p.R821fs|RBM10_uc004dhh.3_Frame_Shift_Del_p.R820fs|RBM10_uc010nhq.3_Frame_Shift_Del_p.R744fs|RBM10_uc004dhg.3_Frame_Shift_Del_p.R743fs	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	821	G-patch.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAGCTGAACGCAGAGAAAAGTATGG	0.561												
HEPH	9843	broad.mit.edu	37	X	65483525	65483525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:65483524_65483524GA>G	uc011moz.2	+	19	3537	c.3400_3400GA>G	c.(3400-3402)gaafs	p.E1134fs	HEPH_uc004dwn.3_Frame_Shift_Del_p.E1083fs|HEPH_uc004dwo.3_Frame_Shift_Del_p.E813fs|HEPH_uc010nkr.3_Frame_Shift_Del_p.E891fs|HEPH_uc011mpa.2_Frame_Shift_Del_p.E1083fs	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1080					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAAAGAGACTGAAAAAGGTAC	0.443												
PJA1	64219	broad.mit.edu	37	X	68382265	68382265	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:68382264_68382264AT>A	uc022byl.1	-	0	818	c.818_818AT>T	c.(817-819)attfs	p.I273fs	PJA1_uc004dxg.3_Intron|PJA1_uc004dxh.3_Frame_Shift_Del_p.I273fs|PJA1_uc004dxi.3_Frame_Shift_Del_p.I218fs|PJA1_uc011mpi.2_5'UTR	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	273							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATCAAAAAAAATTTTTGGTTT	0.483												
RGAG4	340526	broad.mit.edu	37	X	71349939	71349939	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:71349938_71349938TG>T	uc010nlh.2	-	0	1453	c.1453_1453CA>A	c.(1453-1455)acafs	p.T485fs	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Frame_Shift_Del_p.T485fs	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	485										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TAACCACTTGTGGGGCCAGAA	0.557												
ZNF711	7552	broad.mit.edu	37	X	84526788	84526788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:84526787_84526787GA>G	uc004eeq.3	+	9	3263	c.2377_2377GA>G	c.(2377-2379)gaafs	p.E793fs	ZNF711_uc004eep.3_Frame_Shift_Del_p.E747fs|ZNF711_uc004eeo.3_Frame_Shift_Del_p.E747fs|ZNF711_uc011mqy.1_Frame_Shift_Del_p.E346fs	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	747					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAGACCATCAGAAAAAAATCA	0.363												
SLC6A14	11254	broad.mit.edu	37	X	115569030	115569030	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:115569029_115569029CA>C	uc004eqi.3	+	1	251	c.120_120CA>C	c.(118-120)tccfs	p.S40fs	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	40					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GTAACTGGTCCAAAAAATCGG	0.413												
STAG2	10735	broad.mit.edu	37	X	123164817	123164817	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:123164816_123164816TA>T	uc004eua.3	+	4	533	c.129_129TA>T	c.(127-129)tgtfs	p.C43fs	STAG2_uc004etz.4_Frame_Shift_Del_p.C43fs|STAG2_uc004eub.3_Frame_Shift_Del_p.C43fs|STAG2_uc004euc.3_Frame_Shift_Del_p.C43fs|STAG2_uc004eud.3_Frame_Shift_Del_p.C43fs|STAG2_uc004eue.3_Frame_Shift_Del_p.C43fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	43					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGCAGACTTGTAAAAAAGGCA	0.418												
ARHGAP36	158763	broad.mit.edu	37	X	130215725	130215725	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:130215724_130215724AT>A	uc004evz.3	+	1	430	c.85_85AT>A	c.(85-87)attfs	p.I29fs	ARHGAP36_uc004ewa.3_Intron|ARHGAP36_uc004ewb.3_Intron|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	29					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GTCCGCCTTCATTTTTTTAGT	0.537												
DDX26B	203522	broad.mit.edu	37	X	134681155	134681156	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:134681154_134681155G>GA	uc004eyw.4	+	5	1069_1070	c.706_707G>GA	c.(706-708)gaafs	p.E236fs		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	236										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TATTAATTTTGAAAAAACAGGA	0.332												
GABRE	2564	broad.mit.edu	37	X	151130987	151130987	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:151130986_151130986TA>T	uc004ffi.3	-	3	526	c.472_472TA>A	c.(472-474)aggfs	p.R158fs	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	158					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTAGAATTCCTAAAAAAGGTG	0.488												
L1CAM	3897	broad.mit.edu	37	X	153132296	153132296	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:153132295_153132295TG>T	uc004fjb.3	-	17	2348	c.2240_2240CA>A	c.(2239-2241)cagfs	p.Q747fs	L1CAM_uc004fjc.3_Frame_Shift_Del_p.Q747fs|L1CAM_uc010nuo.3_Frame_Shift_Del_p.Q742fs	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	747	Fibronectin type-III 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					GTACTGAACCTGGGGGGCGTT	0.657												
FLNA	2316	broad.mit.edu	37	X	153590824	153590824	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4370-01A-01D-1158-08	TCGA-BR-4370-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e	18ac71f7-5e0b-4232-b724-197e4e4c1ea8	g.chrX:153590823_153590823GC>G	uc004fkk.2	-	16	2777	c.2528_2528GC>C	c.(2527-2529)gctfs	p.A843fs	FLNA_uc010nuu.1_Frame_Shift_Del_p.A843fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	843					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	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|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)					GTAGCTGCCAGCCCCCCGGGG	0.597