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
KLHL17	339451	broad.mit.edu	37	1	899383	899383	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:899383C>T	uc001aca.1	+	9	1546	c.1439C>T	c.(1438-1440)ACG>ATG	p.T480M	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	480	Interaction with F-actin (By similarity).|Kelch 3.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGAGTGGCCACGCTTGGTGGG	0.682												
SDF4	51150	broad.mit.edu	37	1	1154278	1154278	+	Missense_Mutation	SNP	G	G	A	rs151114509	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:1154278G>A	uc001adh.3	-	5	936	c.607C>T	c.(607-609)CGC>TGC	p.R203C	SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Missense_Mutation_p.R203C|SDF4_uc009vjv.2_Missense_Mutation_p.R81C|SDF4_uc009vjw.2_RNA	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	203	EF-hand 3.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding			upper_aerodigestive_tract(1)|large_intestine(1)	2	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;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TGGTACCAGCGGTCCTTCAGG	0.632												
B3GALT6	126792	broad.mit.edu	37	1	1168284	1168284	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:1168284A>G	uc001adk.2	+	1	656	c.626A>G	c.(625-627)TAC>TGC	p.Y209C	SDF4_uc001adh.3_5'Flank|SDF4_uc001adi.3_5'Flank|SDF4_uc009vjv.2_5'Flank|SDF4_uc009vjw.2_5'Flank	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN	beta-1,3-galactosyltransferase 6	209	Lumenal (Potential).				glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase 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;2.22e-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;0.199)		TGCGACTACTACCTGCCCTAC	0.667												
DVL1	1855	broad.mit.edu	37	1	1277817	1277817	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:1277817C>T	uc001aer.3	-	3	335	c.288G>A	c.(286-288)ACG>ACA	p.T96T	DVL1_uc002quu.2_5'Flank|DVL1_uc009vka.2_5'Flank|DVL1_uc001aeu.1_5'Flank	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	96					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)		TGTGGCTGTCCGTGCCCTGGG	0.711												
NADK	65220	broad.mit.edu	37	1	1685059	1685059	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:1685059T>C	uc009vkw.2	-	11	1252	c.1131A>G	c.(1129-1131)ACA>ACG	p.T377T	NADK_uc001aic.2_Silent_p.T377T|NADK_uc001aid.3_Silent_p.T377T|NADK_uc001aie.2_Silent_p.T522T|NADK_uc010nyv.1_Silent_p.T345T	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	377					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	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)		ACACCCATGCTGTGTTCCTTG	0.627												
PLCH2	9651	broad.mit.edu	37	1	2415891	2415891	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:2415891C>T	uc001aji.1	+	5	924	c.650C>T	c.(649-651)GCG>GTG	p.A217V	PLCH2_uc010nyz.1_Missense_Mutation_p.A5V|PLCH2_uc009vle.1_Missense_Mutation_p.A5V|PLCH2_uc001ajj.1_Missense_Mutation_p.A5V|PLCH2_uc001ajk.1_Missense_Mutation_p.A5V	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	217	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TTGCAGGAAGCGGACACGGAT	0.597												
PLCH2	9651	broad.mit.edu	37	1	2426323	2426323	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:2426323G>T	uc001aji.1	+	12	1962	c.1688G>T	c.(1687-1689)GGG>GTG	p.G563V	PLCH2_uc010nyz.1_Missense_Mutation_p.G351V|PLCH2_uc009vle.1_Missense_Mutation_p.G351V|PLCH2_uc001ajj.1_Missense_Mutation_p.G351V|PLCH2_uc001ajk.1_Missense_Mutation_p.G351V	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	563					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GTGGAGTCTGGGGAGGATGCC	0.672												
C1orf174	339448	broad.mit.edu	37	1	3809521	3809521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:3809521G>A	uc001alf.2	-	2	162	c.55C>T	c.(55-57)CGA>TGA	p.R19*	C1orf174_uc009vls.2_RNA	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	hypothetical protein LOC339448	19											0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GAACAACTTCGTGCTTTCAAG	0.567												
RNF207	388591	broad.mit.edu	37	1	6272055	6272055	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:6272055C>T	uc001amg.2	+	13	1412	c.1238C>T	c.(1237-1239)GCG>GTG	p.A413V	RNF207_uc010nzp.1_RNA	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	ring finger protein 207	413						intracellular	zinc ion binding				0	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|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;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GTGCTGCTGGCGGAGGGCGAG	0.662												
RNF207	388591	broad.mit.edu	37	1	6272090	6272090	+	Missense_Mutation	SNP	C	C	T	rs138727802	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:6272090C>T	uc001amg.2	+	13	1447	c.1273C>T	c.(1273-1275)CGC>TGC	p.R425C	RNF207_uc010nzp.1_RNA	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	ring finger protein 207	425	Potential.					intracellular	zinc ion binding				0	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|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;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGAGCACTGCCGCCACTATGA	0.642												
RERE	473	broad.mit.edu	37	1	8421496	8421496	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:8421496G>A	uc001ape.2	-	19	2881	c.2071C>T	c.(2071-2073)CGC>TGC	p.R691C	RERE_uc001apf.2_Missense_Mutation_p.R691C|RERE_uc010nzx.1_Missense_Mutation_p.R423C|RERE_uc001apd.2_Missense_Mutation_p.R137C	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	691					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)		TTGACGCTGCGACTGTCTGAA	0.592												
CA6	765	broad.mit.edu	37	1	9027746	9027746	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:9027746C>T	uc001apm.2	+	6	624	c.600C>T	c.(598-600)GAC>GAT	p.D200D	CA6_uc009vmn.2_Silent_p.D140D	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	200					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCCTTGACGTTCAGGACA	0.577												
KIF1B	23095	broad.mit.edu	37	1	10420986	10420986	+	Splice_Site	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:10420986G>T	uc001aqx.3	+	39	4258	c.4056_splice	c.e39-1	p.R1352_splice	KIF1B_uc001aqw.3_Splice_Site_p.R1306_splice|KIF1B_uc001aqy.2_Splice_Site_p.R1326_splice|KIF1B_uc001aqz.2_Splice_Site_p.R1352_splice|KIF1B_uc001ara.2_Splice_Site_p.R1312_splice|KIF1B_uc001arb.2_Splice_Site_p.R1338_splice	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b						anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCTGACCTTAGGACCTTCTAC	0.468												
DFFA	1676	broad.mit.edu	37	1	10521701	10521701	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:10521701T>A	uc001arj.2	-	6	940	c.842A>T	c.(841-843)AAG>ATG	p.K281M	DFFA_uc001ark.2_3'UTR	NM_004401	NP_004392	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha	281					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGTCTCCGTCTTCTTTATGTC	0.562												
CASZ1	54897	broad.mit.edu	37	1	10705023	10705023	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:10705023T>C	uc001aro.2	-	18	4139	c.3819A>G	c.(3817-3819)GCA>GCG	p.A1273A		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGCCATTGGCTGCCCGCCGCT	0.607												
PTCHD2	57540	broad.mit.edu	37	1	11561152	11561152	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:11561152G>T	uc001ash.3	+	2	241	c.103G>T	c.(103-105)GGG>TGG	p.G35W	PTCHD2_uc001asi.1_Missense_Mutation_p.G35W	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	35	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCAGAAGCCAGGGCCCCAACC	0.647												
PTCHD2	57540	broad.mit.edu	37	1	11561770	11561770	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:11561770G>A	uc001ash.3	+	2	859	c.721G>A	c.(721-723)GCA>ACA	p.A241T	PTCHD2_uc001asi.1_Missense_Mutation_p.A241T	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	241	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCCCACGCGGCAGTCGCGGC	0.692												
FBXO6	26270	broad.mit.edu	37	1	11733437	11733437	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:11733437A>G	uc001aso.2	+	5	779	c.613A>G	c.(613-615)ATC>GTC	p.I205V		NM_018438	NP_060908	Q9NRD1	FBX6_HUMAN	F-box only protein 6	205	FBA.				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			lung(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGTGACCATCCAACAGTG	0.602												
VPS13D	55187	broad.mit.edu	37	1	12337865	12337865	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:12337865T>C	uc001atv.2	+	19	4361	c.4220T>C	c.(4219-4221)ATC>ACC	p.I1407T	VPS13D_uc001atw.2_Missense_Mutation_p.I1407T|VPS13D_uc001atx.2_Missense_Mutation_p.I595T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1407					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGATATTCATCCAGAATTTT	0.448												
VPS13D	55187	broad.mit.edu	37	1	12557635	12557635	+	Silent	SNP	G	G	A	rs150143640	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:12557635G>A	uc001atv.2	+	68	12885	c.12744G>A	c.(12742-12744)GCG>GCA	p.A4248A	VPS13D_uc001atw.2_Silent_p.A4223A|VPS13D_uc001atx.2_Silent_p.A3435A|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Silent_p.A246A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	4247					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAGCCAGGCGGAAGGACAGG	0.547												
DHRS3	9249	broad.mit.edu	37	1	12628448	12628448	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:12628448A>T	uc001auc.2	-	6	1297	c.830T>A	c.(829-831)CTT>CAT	p.L277H	DHRS3_uc001aub.2_Missense_Mutation_p.L192H	NM_004753	NP_004744	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	277					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			skin(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	AGCCTGTGGAAGTATGCTGGA	0.537												
SPEN	23013	broad.mit.edu	37	1	16255775	16255775	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:16255775G>A	uc001axk.1	+	11	3244	c.3040G>A	c.(3040-3042)GTG>ATG	p.V1014M	SPEN_uc010obp.1_Missense_Mutation_p.V973M	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1014					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGATGCTCGCGTGCTTTCAAA	0.463												
EPHA2	1969	broad.mit.edu	37	1	16460035	16460035	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:16460035A>G	uc001aya.1	-	10	1942	c.1805T>C	c.(1804-1806)TTG>TCG	p.L602S		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	602	Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGTGAACTTCAACACAGCCTG	0.597												
ARHGEF10L	55160	broad.mit.edu	37	1	17945850	17945850	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:17945850G>C	uc001ban.2	+	10	1011	c.852G>C	c.(850-852)GAG>GAC	p.E284D	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.E245D|ARHGEF10L_uc001bao.2_Missense_Mutation_p.E245D|ARHGEF10L_uc001bap.2_Missense_Mutation_p.E245D|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.E42D|ARHGEF10L_uc001baq.2_Missense_Mutation_p.E50D|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.E62D|ARHGEF10L_uc001bar.2_Missense_Mutation_p.E62D	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	284					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGGAGGAGGAGGACATGGGGC	0.652												
UBR4	23352	broad.mit.edu	37	1	19404515	19404515	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:19404515G>A	uc001bbi.2	-	104	15283	c.15279C>T	c.(15277-15279)TCC>TCT	p.S5093S	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_5'UTR|UBR4_uc010ocv.1_Silent_p.S616S|UBR4_uc009vph.2_Silent_p.S727S|UBR4_uc010ocw.1_Silent_p.S757S|UBR4_uc001bbg.2_Silent_p.S804S|UBR4_uc001bbh.2_Silent_p.S802S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	5093					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAAAGAGAAGGGAAGAACGGT	0.468												
UBR4	23352	broad.mit.edu	37	1	19433462	19433462	+	Splice_Site	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:19433462T>C	uc001bbi.2	-	82	12110	c.12106_splice	c.e82-1	p.D4036_splice	UBR4_uc001bbg.2_5'Flank|UBR4_uc001bbh.2_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGGACATCCTGGAGGAGGCA	0.602												
HTR6	3362	broad.mit.edu	37	1	19992556	19992556	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:19992556G>A	uc001bcl.2	+	1	777	c.310G>A	c.(310-312)GCC>ACC	p.A104T		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	104	Helical; Name=3; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GCTCTGGACCGCCTTCGACGT	0.672												
OTUD3	23252	broad.mit.edu	37	1	20234193	20234193	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:20234193A>G	uc001bcs.3	+	8	1270	c.1151A>G	c.(1150-1152)AAC>AGC	p.N384S		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	384											0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGAGGCGAACACGCAGGTC	0.557												
ECE1	1889	broad.mit.edu	37	1	21599373	21599373	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:21599373A>G	uc001bek.2	-	4	387	c.312T>C	c.(310-312)TGT>TGC	p.C104C	ECE1_uc001bem.2_Silent_p.C88C|ECE1_uc001bej.2_Silent_p.C92C|ECE1_uc001bei.2_Silent_p.C101C|ECE1_uc010odl.1_Silent_p.C104C|ECE1_uc009vqa.1_Silent_p.C104C	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	104	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCACTGAGACACAAGCTTCGC	0.602												
EPHB2	2048	broad.mit.edu	37	1	23191443	23191443	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:23191443C>T	uc009vqj.1	+	5	1186	c.1041C>T	c.(1039-1041)CCC>CCT	p.P347P	EPHB2_uc001bge.2_Silent_p.P347P|EPHB2_uc001bgf.2_Silent_p.P347P|EPHB2_uc010odu.1_Silent_p.P347P|hsa-mir-4253|MI0015860_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	347	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGACCCCTCCCCGCGACTCCG	0.652									Hereditary_Prostate_Cancer			
EPHB2	2048	broad.mit.edu	37	1	23235636	23235636	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:23235636G>A	uc009vqj.1	+	13	2619	c.2474G>A	c.(2473-2475)CGG>CAG	p.R825Q	EPHB2_uc001bge.2_Missense_Mutation_p.R826Q|EPHB2_uc001bgf.2_Missense_Mutation_p.R825Q|EPHB2_uc010odu.1_Missense_Mutation_p.R767Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	825	Cytoplasmic (Potential).|Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TATGGGGAGCGGCCCTACTGG	0.602									Hereditary_Prostate_Cancer			
KDM1A	23028	broad.mit.edu	37	1	23398631	23398631	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:23398631A>G	uc001bgi.2	+	12	1640	c.1491A>G	c.(1489-1491)TTA>TTG	p.L497L	KDM1A_uc001bgj.2_Silent_p.L521L	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	497	Potential.|Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						ATGATGAATTAGCTGAAACAC	0.388												
ASAP3	55616	broad.mit.edu	37	1	23762466	23762466	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:23762466G>A	uc001bha.2	-	17	1751	c.1627C>T	c.(1627-1629)CGG>TGG	p.R543W	ASAP3_uc001bgy.1_Missense_Mutation_p.R47W|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.R412W|ASAP3_uc010oea.1_Missense_Mutation_p.R534W|ASAP3_uc001bhb.2_Missense_Mutation_p.R66W	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	543	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						GGTGTGCACCGGCGTGCAAAC	0.572												
WDTC1	23038	broad.mit.edu	37	1	27624461	27624461	+	Missense_Mutation	SNP	G	G	A	rs149286456		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:27624461G>A	uc009vst.2	+	12	1626	c.1091G>A	c.(1090-1092)CGT>CAT	p.R364H	WDTC1_uc001bno.2_Missense_Mutation_p.R363H|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.R42H	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	364	TPR 1.						protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TACCTGGAGCGTGTGAAACAG	0.552												
PTAFR	5724	broad.mit.edu	37	1	28476598	28476598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:28476598C>T	uc001bpl.2	-	2	1062	c.935G>A	c.(934-936)CGC>CAC	p.R312H	PTAFR_uc001bpm.3_Missense_Mutation_p.R312H|PTAFR_uc009vte.2_Missense_Mutation_p.R312H	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	312	Cytoplasmic (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGCTACTGCGCATGCTGTA	0.517												
DNAJC8	22826	broad.mit.edu	37	1	28541456	28541456	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:28541456G>A	uc001bpn.2	-	3	265	c.232C>T	c.(232-234)CGG>TGG	p.R78W	DNAJC8_uc001bpo.2_RNA	NM_014280	NP_055095	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	78	J.				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TGTACCTGCCGAAACCTCTTT	0.318												
BAI2	576	broad.mit.edu	37	1	32207532	32207532	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:32207532C>T	uc001btn.2	-	9	1808	c.1454G>A	c.(1453-1455)AGC>AAC	p.S485N	BAI2_uc010ogo.1_Missense_Mutation_p.S127N|BAI2_uc010ogp.1_Missense_Mutation_p.S418N|BAI2_uc010ogq.1_Missense_Mutation_p.S485N|BAI2_uc001bto.2_Missense_Mutation_p.S485N|BAI2_uc001btq.1_Missense_Mutation_p.S418N|BAI2_uc010ogr.1_Missense_Mutation_p.S418N	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	485	TSP type-1 4.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGAGCACAGGCTCCACGCATT	0.647												
RNF19B	127544	broad.mit.edu	37	1	33413904	33413904	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:33413904C>T	uc010oho.1	-	3	905	c.905G>A	c.(904-906)TGT>TAT	p.C302Y	RNF19B_uc001bwm.3_Missense_Mutation_p.C301Y|RNF19B_uc010ohp.1_Missense_Mutation_p.C301Y	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	302	RING-type 2.					integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CATGTGATTACAGCTTCCATC	0.443												
GJB4	127534	broad.mit.edu	37	1	35227066	35227066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:35227066G>A	uc001bxv.1	+	2	581	c.211G>A	c.(211-213)GTG>ATG	p.V71M	GJB4_uc001bxw.3_Missense_Mutation_p.V71M	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	71	Extracellular (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTTCTTCCCCGTGTCCCACGT	0.637												
GJB4	127534	broad.mit.edu	37	1	35227334	35227334	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:35227334G>T	uc001bxv.1	+	2	849	c.479G>T	c.(478-480)CGC>CTC	p.R160L	GJB4_uc001bxw.3_Missense_Mutation_p.R160L	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	160	Extracellular (Potential).		R -> C (may be associated with deafness).		cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GACATGCCCCGCGTGGTGGCC	0.577												
ZMYM4	9202	broad.mit.edu	37	1	35870723	35870723	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:35870723G>A	uc001byt.2	+	24	3708	c.3628G>A	c.(3628-3630)GGG>AGG	p.G1210R	ZMYM4_uc009vuu.2_Missense_Mutation_p.G1178R|ZMYM4_uc001byu.2_Missense_Mutation_p.G886R|ZMYM4_uc009vuv.2_Missense_Mutation_p.G949R	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	1210					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATACATGTATGGGGTAAATGC	0.478												
EIF2C4	192670	broad.mit.edu	37	1	36291026	36291026	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:36291026A>G	uc001bzj.1	+	4	609	c.419A>G	c.(418-420)CAC>CGC	p.H140R		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	140					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGGCTGGGCACTTGAATGAA	0.448												
ZC3H12A	80149	broad.mit.edu	37	1	37948726	37948726	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:37948726G>T	uc001cbb.3	+	6	1464	c.1314G>T	c.(1312-1314)TCG>TCT	p.S438S	ZC3H12A_uc001cbc.1_Silent_p.S233S	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	438					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTGGACTCGGGCATTGGCT	0.662												
RSPO1	284654	broad.mit.edu	37	1	38095330	38095330	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:38095330G>A	uc001cbl.1	-	4	792	c.4C>T	c.(4-6)CGG>TGG	p.R2W	RSPO1_uc001cbm.1_Missense_Mutation_p.R2W|RSPO1_uc009vvf.1_Intron|RSPO1_uc009vvg.1_Missense_Mutation_p.R2W	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1 precursor	2					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCCAAGCCGCATAGTCACG	0.642												
EPHA10	284656	broad.mit.edu	37	1	38197190	38197190	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:38197190A>G	uc009vvi.2	-	7	1642	c.1556T>C	c.(1555-1557)CTG>CCG	p.L519P	EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	519	Fibronectin type-III 2.|Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCGGCTTCAGGTTGGTGAC	0.602												
SF3A3	10946	broad.mit.edu	37	1	38449889	38449889	+	Silent	SNP	G	G	A	rs139312538	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:38449889G>A	uc001cci.2	-	6	544	c.420C>T	c.(418-420)CTC>CTT	p.L140L	SF3A3_uc010oik.1_Silent_p.L87L	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	140					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CATGGAGATCGAGATAACGAC	0.458												
MACF1	23499	broad.mit.edu	37	1	39775307	39775307	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:39775307T>G	uc010ois.1	+	25	3075	c.2870T>G	c.(2869-2871)CTT>CGT	p.L957R	MACF1_uc001cda.1_Missense_Mutation_p.L865R|MACF1_uc001cdc.1_Missense_Mutation_p.L44R|MACF1_uc009vvq.1_Missense_Mutation_p.L14R|MACF1_uc001cdb.1_Missense_Mutation_p.L44R	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	957					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCAAAAGCCTTATCTCTTGG	0.413												
MACF1	23499	broad.mit.edu	37	1	39818828	39818828	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:39818828C>A	uc010oiu.1	+	8	6800	c.6669C>A	c.(6667-6669)GCC>GCA	p.A2223A	MACF1_uc010ois.1_Silent_p.A1721A|MACF1_uc001cda.1_Silent_p.A1629A|MACF1_uc001cdc.1_Silent_p.A808A|MACF1_uc001cdb.1_Silent_p.A808A	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3788					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGGAGCCTTGGACACCA	0.488												
RLF	6018	broad.mit.edu	37	1	40701518	40701518	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:40701518C>T	uc001cfc.3	+	8	1175	c.1144C>T	c.(1144-1146)CTC>TTC	p.L382F	RLF_uc001cfd.3_Missense_Mutation_p.L73F	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	382					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGCTCTTCAACTCAGATCAAG	0.373												
DEM1	64789	broad.mit.edu	37	1	40981196	40981196	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:40981196T>C	uc001cfp.2	+	3	1185	c.980T>C	c.(979-981)ATG>ACG	p.M327T	DEM1_uc001cfq.2_Missense_Mutation_p.M327T|DEM1_uc001cfr.2_Missense_Mutation_p.M327T|DEM1_uc001cfs.2_Missense_Mutation_p.M327T	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	327							DNA binding|exonuclease activity				0						GCCTACTGGATGGGCCACCGA	0.542												
NFYC	4802	broad.mit.edu	37	1	41236429	41236429	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:41236429G>A	uc001cge.2	+	10	1314	c.1306G>A	c.(1306-1308)GCC>ACC	p.A436T	NFYC_uc001cfx.3_Missense_Mutation_p.A332T|NFYC_uc009vwd.2_Missense_Mutation_p.A313T|NFYC_uc001cfz.2_Missense_Mutation_p.A312T|NFYC_uc010ojn.1_Missense_Mutation_p.A275T|NFYC_uc001cfy.3_Missense_Mutation_p.A313T|NFYC_uc001cgc.2_Missense_Mutation_p.A279T|NFYC_uc001cgb.2_Missense_Mutation_p.A417T|NFYC_uc001cgd.3_Missense_Mutation_p.A313T	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma isoform 1	436					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|kidney(1)	3	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CCAGGACCTCGCCCAGCCCAT	0.667												
RIMKLA	284716	broad.mit.edu	37	1	42880422	42880422	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:42880422C>T	uc001chi.2	+	5	1091	c.953C>T	c.(952-954)TCG>TTG	p.S318L		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	318					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CCAGGACTGTCGAGTCCAAGG	0.522												
PPCS	79717	broad.mit.edu	37	1	42922972	42922972	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:42922972T>C	uc001chl.2	+	2	627	c.563T>C	c.(562-564)GTC>GCC	p.V188A	ZMYND12_uc001chj.2_5'Flank|ZMYND12_uc010ojt.1_5'Flank|PPCS_uc001chk.2_Missense_Mutation_p.V15A	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase isoform	188					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TATGTTCCTGTCTCTGAAATG	0.493												
SLC2A1	6513	broad.mit.edu	37	1	43393339	43393339	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:43393339G>A	uc001cik.2	-	9	1740	c.1215C>T	c.(1213-1215)GCC>GCT	p.A405A		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	405	Helical; Name=11; (Potential).		A -> D (in GLUT1DS1).		carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	AGCCTGCAACGGCAATGGCAG	0.552												
DMAP1	55929	broad.mit.edu	37	1	44685707	44685707	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:44685707C>T	uc001clq.1	+	10	1150	c.1070C>T	c.(1069-1071)ACG>ATG	p.T357M	DMAP1_uc001clr.1_Missense_Mutation_p.T357M|DMAP1_uc001cls.1_Missense_Mutation_p.T357M|DMAP1_uc010oku.1_Missense_Mutation_p.T347M	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	357					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					CCGACACCTACGGAGGAGCTG	0.627												
BEST4	266675	broad.mit.edu	37	1	45251767	45251767	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:45251767G>A	uc001cmm.2	-	4	664	c.615C>T	c.(613-615)ATC>ATT	p.I205I		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	bestrophin 4	205	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GACAGAGAGCGATATCGTCAC	0.493											OREG0013447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MUTYH	4595	broad.mit.edu	37	1	45798819	45798819	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:45798819G>T	uc001cnm.2	-	5	619	c.403C>A	c.(403-405)CAG>AAG	p.Q135K	MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Missense_Mutation_p.Q110K|MUTYH_uc009vxo.2_Missense_Mutation_p.Q110K|MUTYH_uc001cng.2_Missense_Mutation_p.Q121K|MUTYH_uc001cnj.2_Missense_Mutation_p.Q18K|MUTYH_uc001cni.2_Missense_Mutation_p.Q110K|MUTYH_uc001cnh.2_Missense_Mutation_p.Q111K|MUTYH_uc001cno.2_Missense_Mutation_p.Q18K|MUTYH_uc001cnk.2_Intron|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.Q124K|MUTYH_uc009vxp.2_Missense_Mutation_p.Q138K|MUTYH_uc001cnn.2_Missense_Mutation_p.Q125K	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	135					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					TGGGTCTGCTGCAGCATGACC	0.607			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis			
EPS15	2060	broad.mit.edu	37	1	51938555	51938555	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:51938555C>T	uc001csq.1	-	3	233	c.141G>A	c.(139-141)GGG>GGA	p.G47G	EPS15_uc009vyz.1_Silent_p.G47G	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	47	EH 1.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2						AGTCTGGAAGCCCTGATTTTT	0.368			T	MLL	ALL							
OSBPL9	114883	broad.mit.edu	37	1	52238325	52238325	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:52238325C>A	uc001cst.2	+	14	1119	c.1100C>A	c.(1099-1101)TCT>TAT	p.S367Y	OSBPL9_uc001css.2_Missense_Mutation_p.S372Y|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.S368Y|OSBPL9_uc001csu.2_Missense_Mutation_p.S377Y|OSBPL9_uc001csv.2_Missense_Mutation_p.S202Y|OSBPL9_uc001csw.2_Missense_Mutation_p.S354Y|OSBPL9_uc001csy.2_Missense_Mutation_p.S189Y|OSBPL9_uc001csz.2_Missense_Mutation_p.S189Y|OSBPL9_uc001cta.2_Missense_Mutation_p.S257Y|OSBPL9_uc001ctb.2_Missense_Mutation_p.S152Y	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	367					lipid transport		lipid binding			central_nervous_system(1)	1						GAGGCAGGGTCTGTGGAGGAG	0.433												
ORC1L	4998	broad.mit.edu	37	1	52847336	52847336	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:52847336G>A	uc001ctt.2	-	14	2330	c.2111C>T	c.(2110-2112)GCC>GTC	p.A704V	ORC1L_uc010oni.1_Missense_Mutation_p.A699V|ORC1L_uc001ctu.2_Missense_Mutation_p.A704V|ORC1L_uc009vzd.2_Missense_Mutation_p.A458V	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	704	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						CAGCTGGATGGCATCATCTTC	0.383												
PODN	127435	broad.mit.edu	37	1	53544147	53544147	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:53544147G>A	uc001cuv.2	+	8	1116	c.1109G>A	c.(1108-1110)CGG>CAG	p.R370Q	PODN_uc001cuw.2_Missense_Mutation_p.R351Q|PODN_uc010onr.1_Missense_Mutation_p.R351Q|PODN_uc010ons.1_Missense_Mutation_p.R228Q	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	322	LRR 10.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						AACGCCATCCGGAGCGTGGAC	0.567												
DMRTB1	63948	broad.mit.edu	37	1	53925145	53925145	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:53925145C>A	uc001cvq.1	+	1	74	c.19C>A	c.(19-21)CGC>AGC	p.R7S		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	7					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CAAAATGGTGCGCACCCCCAA	0.622												
YIPF1	54432	broad.mit.edu	37	1	54331937	54331937	+	Missense_Mutation	SNP	C	C	T	rs139670932		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:54331937C>T	uc001cvu.2	-	9	1104	c.767G>A	c.(766-768)CGC>CAC	p.R256H	YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	256	Cytoplasmic (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2						CAATGCAACGCGTCGGTTATC	0.468												
FGGY	55277	broad.mit.edu	37	1	60125950	60125950	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:60125950A>G	uc001czi.3	+	12	1493	c.1281A>G	c.(1279-1281)ACA>ACG	p.T427T	FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Silent_p.T451T|FGGY_uc001czj.3_Silent_p.T426T|FGGY_uc001czk.3_Silent_p.T315T|FGGY_uc001czl.3_Silent_p.T339T|FGGY_uc001czm.3_Silent_p.T128T	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	427					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					ACCTGGCCACAGTTCAAGCCA	0.458												
KANK4	163782	broad.mit.edu	37	1	62732402	62732402	+	Splice_Site	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:62732402A>G	uc001dah.3	-	6	2696	c.2319_splice	c.e6+1	p.L773_splice	KANK4_uc001dai.3_Splice_Site_p.L145_splice|KANK4_uc001dag.3_Splice_Site_p.L129_splice	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38											ovary(3)|skin(2)|lung(1)	6						AAATTAGAGTACCAAGAGCTG	0.448												
LRRC40	55631	broad.mit.edu	37	1	70654896	70654896	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:70654896G>A	uc001der.1	-	2	264	c.212C>T	c.(211-213)TCG>TTG	p.S71L		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	71										ovary(1)	1						AGCACCAAACGAAAGATTCTG	0.403												
ZRANB2	9406	broad.mit.edu	37	1	71536538	71536538	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:71536538A>G	uc001dft.2	-	7	722	c.655T>C	c.(655-657)TCC>CCC	p.S219P	ZRANB2_uc001dfs.2_Missense_Mutation_p.S219P	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	zinc finger protein 265 isoform 1	219	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						CTTGAGGGGGAGGATGAGCGT	0.388												
ASB17	127247	broad.mit.edu	37	1	76397950	76397950	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:76397950A>G	uc001dhe.1	-	1	167	c.27T>C	c.(25-27)GGT>GGC	p.G9G	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	9					intracellular signal transduction					ovary(1)	1						AAGAAGTCTTACCACATAATT	0.353												
PIGK	10026	broad.mit.edu	37	1	77587958	77587958	+	Splice_Site	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:77587958A>C	uc001dhk.2	-	10	1116	c.1071_splice	c.e10+1	p.Q357_splice	PIGK_uc010orj.1_Splice_Site_p.Q281_splice|PIGK_uc009wbx.2_Splice_Site_p.Q263_splice	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,						attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3						TGAAATGCAAACCTGGTGTAT	0.333												
AK5	26289	broad.mit.edu	37	1	77987583	77987583	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:77987583C>T	uc001dhn.2	+	12	1640	c.1383C>T	c.(1381-1383)GAC>GAT	p.D461D	AK5_uc001dho.2_Silent_p.D435D	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	461	AMP (By similarity).				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1						TCCTGATTGACGGCTATCCTC	0.582												
FNBP1L	54874	broad.mit.edu	37	1	94012462	94012462	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:94012462T>C	uc001dpw.2	+	11	1164	c.1164T>C	c.(1162-1164)AGT>AGC	p.S388S	FNBP1L_uc001dpv.2_Silent_p.S388S|FNBP1L_uc010otk.1_Silent_p.S266S|FNBP1L_uc010otl.1_Silent_p.S16S	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like isoform 1	446	REM.|Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		ATCCAGGGAGTTTGCAGCCTA	0.373												
VAV3	10451	broad.mit.edu	37	1	108115957	108115957	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:108115957T>C	uc001dvk.1	-	27	2594	c.2540A>G	c.(2539-2541)GAA>GGA	p.E847G	VAV3_uc010ouu.1_Missense_Mutation_p.E279G|VAV3_uc001dvj.1_Missense_Mutation_p.E287G|VAV3_uc010ouv.1_Missense_Mutation_p.E251G|VAV3_uc010ouw.1_Missense_Mutation_p.E875G	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	847	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)		TTGAATTTATTCATCCTCTTC	0.393												
CELSR2	1952	broad.mit.edu	37	1	109812696	109812696	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:109812696G>A	uc001dxa.3	+	23	7310	c.7249G>A	c.(7249-7251)GCT>ACT	p.A2417T		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2417	Helical; Name=2; (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TAACCTGACAGCTGCCCTGGG	0.577												
CELSR2	1952	broad.mit.edu	37	1	109813580	109813580	+	Silent	SNP	C	C	T	rs139210404		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:109813580C>T	uc001dxa.3	+	25	7576	c.7515C>T	c.(7513-7515)TAC>TAT	p.Y2505Y		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2505	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCGAGGGCTACGGGAACCCTG	0.647												
GNAI3	2773	broad.mit.edu	37	1	110091425	110091425	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:110091425A>G	uc001dxz.2	+	1	240	c.83A>G	c.(82-84)GAA>GGA	p.E28G		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	28					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)		GAGGACGGGGAAAAAGCGGCC	0.642												
PTPN22	26191	broad.mit.edu	37	1	114357544	114357544	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:114357544G>A	uc001eds.2	-	21	2537	c.2407C>T	c.(2407-2409)CCA>TCA	p.P803S	RSBN1_uc001edq.2_5'Flank|RSBN1_uc001edr.2_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.P748S|PTPN22_uc010owo.1_Missense_Mutation_p.P559S|PTPN22_uc001edt.2_3'UTR	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	803					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCAAGTTGGTGGTGGATTC	0.318												
CSDE1	7812	broad.mit.edu	37	1	115276643	115276643	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:115276643G>A	uc001efk.2	-	8	1144	c.678C>T	c.(676-678)GGC>GGT	p.G226G	CSDE1_uc001efi.2_Silent_p.G272G|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Silent_p.G195G|CSDE1_uc001efm.2_Silent_p.G241G|CSDE1_uc009wgv.2_Silent_p.G226G|CSDE1_uc001efn.2_Silent_p.G195G	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	226	CSD 3.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACATCATCGCCAGGCTGTA	0.358												
ZNF697	90874	broad.mit.edu	37	1	120165750	120165750	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:120165750C>T	uc001ehy.1	-	3	1330	c.1216G>A	c.(1216-1218)GAG>AAG	p.E406K		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TAGGGCTTCTCGCCCGTGTGC	0.672												
ZNF697	90874	broad.mit.edu	37	1	120165980	120165980	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:120165980C>G	uc001ehy.1	-	3	1100	c.986G>C	c.(985-987)AGC>ACC	p.S329T		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	329	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CAGATGCGAGCTGAGGCTGAA	0.507												
PHGDH	26227	broad.mit.edu	37	1	120279828	120279828	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:120279828G>A	uc001ehz.2	+	8	1111	c.884G>A	c.(883-885)TGT>TAT	p.C295Y	PHGDH_uc009whm.2_Missense_Mutation_p.C193Y|PHGDH_uc001eia.2_Missense_Mutation_p.C295Y|PHGDH_uc009whn.2_Missense_Mutation_p.C295Y|PHGDH_uc001eib.2_Missense_Mutation_p.C261Y	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	295					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CAGAGCCGCTGTGGGGAGGAA	0.612												
PDE4DIP	9659	broad.mit.edu	37	1	144873923	144873923	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:144873923C>A	uc001elw.3	-	31	5325	c.5034G>T	c.(5032-5034)TTG>TTT	p.L1678F	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1634F|PDE4DIP_uc001elv.3_Missense_Mutation_p.L685F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1678					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGGAGTTGGCAAGCTGATGG	0.527			T	PDGFRB	MPD							
BCL9	607	broad.mit.edu	37	1	147090821	147090821	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:147090821C>A	uc001epq.2	+	8	1600	c.860C>A	c.(859-861)CCT>CAT	p.P287H	BCL9_uc010ozr.1_Missense_Mutation_p.P213H	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	287	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					AAACTGATTCCTTCTGTAGGA	0.617			T	IGH@|IGL@	B-ALL							
BCL9	607	broad.mit.edu	37	1	147096167	147096167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:147096167G>A	uc001epq.2	+	10	4428	c.3688G>A	c.(3688-3690)GGA>AGA	p.G1230R	BCL9_uc010ozr.1_Missense_Mutation_p.G1144R	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1230	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					TGGAGCCACCGGAATACCTGA	0.567			T	IGH@|IGL@	B-ALL							
TARS2	80222	broad.mit.edu	37	1	150463946	150463946	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:150463946A>G	uc001euq.2	+	5	596	c.589A>G	c.(589-591)AGG>GGG	p.R197G	TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.R197G|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.R197G	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	197					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ACCCTTCCGGAGGCTAGAGGC	0.547												
SEMA6C	10500	broad.mit.edu	37	1	151112138	151112138	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:151112138T>C	uc001ewu.2	-	5	573	c.273A>G	c.(271-273)GAA>GAG	p.E91E	SEMA6C_uc001ewv.2_Silent_p.E91E|SEMA6C_uc001eww.2_Silent_p.E91E|SEMA6C_uc010pcq.1_Silent_p.E91E|SEMA6C_uc009wml.1_RNA	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	91	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCCCTCCCCTTCTTCTTCGG	0.582												
ZNF687	57592	broad.mit.edu	37	1	151261038	151261038	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:151261038G>A	uc001exq.2	+	3	2248	c.2150G>A	c.(2149-2151)CGC>CAC	p.R717H	ZNF687_uc009wmo.2_Missense_Mutation_p.R717H|ZNF687_uc009wmp.2_Missense_Mutation_p.R717H	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	717	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCCCAATCGCTGCAGCTTC	0.552												
PSMB4	5692	broad.mit.edu	37	1	151373007	151373007	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:151373007C>T	uc001eyc.1	+	3	460	c.437C>T	c.(436-438)TCG>TTG	p.S146L	PSMB4_uc010pda.1_Missense_Mutation_p.S146L|PSMB4_uc001eyb.1_3'UTR	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCCGGCGCTCGAAGATGAAC	0.468												
SNX27	81609	broad.mit.edu	37	1	151611552	151611552	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:151611552T>C	uc001eyn.1	+	2	516	c.500T>C	c.(499-501)GTC>GCC	p.V167A	SNX27_uc001eyo.2_Missense_Mutation_p.V74A|SNX27_uc001eyp.2_5'UTR	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	167	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCATATCGGTCCCCAGATAC	0.463												
FLG2	388698	broad.mit.edu	37	1	152326237	152326237	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:152326237C>G	uc001ezw.3	-	3	4098	c.4025G>C	c.(4024-4026)AGA>ACA	p.R1342T	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1342							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATCTCTGTCTTCCAGATGT	0.483												
SPRR1A	6698	broad.mit.edu	37	1	152957933	152957933	+	Missense_Mutation	SNP	C	C	T	rs151244576		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:152957933C>T	uc009wnu.1	+	2	305	c.227C>T	c.(226-228)ACG>ATG	p.T76M	SPRR1A_uc001faw.2_Missense_Mutation_p.T76M	NM_005987	NP_005978	P35321	SPR1A_HUMAN	small proline-rich protein 1A	76	6.|6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity				0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCTTCAACGGTCACTCCA	0.622												
PGLYRP4	57115	broad.mit.edu	37	1	153317826	153317826	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:153317826G>A	uc001fbo.2	-	4	237	c.172C>T	c.(172-174)CGC>TGC	p.R58C	PGLYRP4_uc001fbp.2_Missense_Mutation_p.R54C	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein-I-beta	58					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)|skin(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGCCTTGCGAGAGACCGTG	0.582												
INTS3	65123	broad.mit.edu	37	1	153735839	153735839	+	Splice_Site	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:153735839G>A	uc009wom.2	+	17	1987	c.1766_splice	c.e17+1	p.S589_splice	INTS3_uc001fct.2_Splice_Site_p.S589_splice|INTS3_uc001fcu.2_Splice_Site_p.S281_splice|INTS3_uc001fcv.2_Splice_Site_p.S383_splice|INTS3_uc010peb.1_Splice_Site_p.S383_splice|INTS3_uc001fcw.2_Splice_Site_p.S102_splice|INTS3_uc010pec.1_Splice_Site_p.S102_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)			AGAAGGGGAGGTGGGTACAGA	0.527												
DENND4B	9909	broad.mit.edu	37	1	153902880	153902880	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:153902880G>T	uc001fdd.1	-	28	4785	c.4384C>A	c.(4384-4386)CTG>ATG	p.L1462M	uc001fdc.1_Intron	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1462										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGCTGGCCAGCTTGTTAAAG	0.572												
NUP210L	91181	broad.mit.edu	37	1	154026855	154026855	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:154026855T>C	uc001fdw.2	-	25	3404	c.3332A>G	c.(3331-3333)CAA>CGA	p.Q1111R	NUP210L_uc009woq.2_Missense_Mutation_p.Q20R|NUP210L_uc010peh.1_Missense_Mutation_p.Q1111R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1111						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AACGATGGATTGGGGCTGGGG	0.458												
CD1C	911	broad.mit.edu	37	1	158263068	158263068	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:158263068T>A	uc001fru.2	+	5	1248	c.956T>A	c.(955-957)CTT>CAT	p.L319H	CD1C_uc001frv.2_Intron	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	319	Helical; (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)					CTAATAGTCCTTGTGTTATGG	0.393												
OR6K6	128371	broad.mit.edu	37	1	158725149	158725149	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:158725149C>A	uc001fsw.1	+	1	544	c.544C>A	c.(544-546)CTC>ATC	p.L182I		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	182	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					TTGTGGCTTCCTCCTTGTGCT	0.473												
COPA	1314	broad.mit.edu	37	1	160293315	160293315	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:160293315G>A	uc009wti.2	-	8	1006	c.612C>T	c.(610-612)CAC>CAT	p.H204H	COPA_uc001fvv.3_Silent_p.H204H|COPA_uc009wtj.1_Silent_p.H150H	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	204	WD 5.				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCCACGATCGTGACCCTGTA	0.433												
OLFML2B	25903	broad.mit.edu	37	1	161953870	161953870	+	Silent	SNP	G	G	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:161953870G>C	uc001gbu.2	-	8	2272	c.1848C>G	c.(1846-1848)GGC>GGG	p.G616G	OLFML2B_uc001gbt.2_Silent_p.G99G|OLFML2B_uc010pkq.1_Silent_p.G617G	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	616	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGTCTGAGTGGCCCTGCCATC	0.612												
C1orf226	400793	broad.mit.edu	37	1	162351994	162351994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:162351994G>A	uc001gby.2	+	1	475	c.303G>A	c.(301-303)TGG>TGA	p.W101*	C1orf226_uc010pkt.1_Nonsense_Mutation_p.W144*	NM_001085375	NP_001078844	A1L170	CA226_HUMAN	hypothetical protein LOC400793 isoform 2	101										ovary(1)	1						CAGAGGCTTGGCTAGAGGATG	0.592												
DDR2	4921	broad.mit.edu	37	1	162722911	162722911	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:162722911T>G	uc001gcf.2	+	5	574	c.109T>G	c.(109-111)TCA>GCA	p.S37A	DDR2_uc001gcg.2_Missense_Mutation_p.S37A	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	37	Extracellular (Potential).|F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCTGGGCATGTCAGGAGGCCA	0.458												
LRRC52	440699	broad.mit.edu	37	1	165514113	165514113	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:165514113G>A	uc001gde.2	+	1	636	c.580G>A	c.(580-582)GAC>AAC	p.D194N	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	194	Extracellular (Potential).|LRRCT.					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTCTTTCCTGGACTTCGCCAT	0.522												
C1orf9	51430	broad.mit.edu	37	1	172579025	172579025	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:172579025G>A	uc001giq.3	+	24	3707	c.3391G>A	c.(3391-3393)GCC>ACC	p.A1131T	C1orf9_uc009wwd.2_Missense_Mutation_p.A1087T|C1orf9_uc010pmn.1_Missense_Mutation_p.A760T|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	1131					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GCACCCCATAGCCAATGGCGA	0.373												
SERPINC1	462	broad.mit.edu	37	1	173886373	173886373	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:173886373C>A	uc001gjt.2	-	1	144	c.25G>T	c.(25-27)GTA>TTA	p.V9L		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	9					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	CCAGAGGTTACAGTTCCTATC	0.502												
TNN	63923	broad.mit.edu	37	1	175097225	175097225	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:175097225G>A	uc001gkl.1	+	14	3216	c.3103G>A	c.(3103-3105)GCC>ACC	p.A1035T		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1035	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGAGCAAGGCGCCACCTACCC	0.527												
TNR	7143	broad.mit.edu	37	1	175372558	175372558	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:175372558C>T	uc001gkp.1	-	2	775	c.694G>A	c.(694-696)GAA>AAA	p.E232K	TNR_uc009wwu.1_Missense_Mutation_p.E232K|TNR_uc010pmz.1_Missense_Mutation_p.E232K	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	232	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CACCGGAGTTCGGAACAGTCA	0.642												
RFWD2	64326	broad.mit.edu	37	1	176175737	176175737	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:176175737G>T	uc001gku.1	-	1	634	c.378C>A	c.(376-378)TCC>TCA	p.S126S	RFWD2_uc001gkv.1_Silent_p.S126S|RFWD2_uc001gkw.1_5'UTR	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	126					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TGTCCTCGTAGGAGTTGATGA	0.617												
PAPPA2	60676	broad.mit.edu	37	1	176564578	176564578	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:176564578G>A	uc001gkz.2	+	3	3002	c.1838G>A	c.(1837-1839)CGC>CAC	p.R613H	PAPPA2_uc001gky.1_Missense_Mutation_p.R613H|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	613	Metalloprotease.				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						GGTGACTGCCGCCTGCAGGGC	0.587												
FAM5B	57795	broad.mit.edu	37	1	177250123	177250123	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:177250123C>A	uc001glf.2	+	8	2123	c.1811C>A	c.(1810-1812)CCT>CAT	p.P604H	FAM5B_uc001glg.2_Missense_Mutation_p.P499H	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	604						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TGGTTCATGCCTGTGAATGAG	0.547												
TDRD5	163589	broad.mit.edu	37	1	179632554	179632554	+	Silent	SNP	G	G	A	rs149892600		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:179632554G>A	uc001gnf.1	+	15	2665	c.2415G>A	c.(2413-2415)ACG>ACA	p.T805T	TDRD5_uc010pnp.1_Silent_p.T859T|TDRD5_uc001gnh.1_Silent_p.T360T	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	805					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						TAAATGGAACGAAAGTAGAAG	0.408												
TOR1AIP1	26092	broad.mit.edu	37	1	179886945	179886945	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:179886945C>T	uc001gnq.2	+	10	1541	c.1323C>T	c.(1321-1323)GCC>GCT	p.A441A		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	441	Lumenal (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						GTGTCCGTGCCATCCGGATTG	0.448												
QSOX1	5768	broad.mit.edu	37	1	180166065	180166065	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:180166065T>G	uc001gnz.2	+	12	2212	c.2137T>G	c.(2137-2139)TGT>GGT	p.C713G	QSOX1_uc001gny.2_Intron|QSOX1_uc001goa.2_Intron|QSOX1_uc001goc.2_Intron|FLJ23867_uc001god.3_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	713	Helical; (Potential).				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						CATCAGCCTCTGTGTGGGGCT	0.647												
KIAA1614	57710	broad.mit.edu	37	1	180905132	180905132	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:180905132C>T	uc001gok.2	+	5	2154	c.2087C>T	c.(2086-2088)ACG>ATG	p.T696M	KIAA1614_uc001gol.1_Missense_Mutation_p.T317M|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	696										ovary(3)|skin(1)	4						AGAGGACACACGCCTGAAGGA	0.597												
CACNA1E	777	broad.mit.edu	37	1	181741239	181741239	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:181741239T>C	uc001gow.2	+	37	5176	c.5011T>C	c.(5011-5013)TCA>CCA	p.S1671P	CACNA1E_uc009wxs.2_Missense_Mutation_p.S1559P|CACNA1E_uc001gox.1_Missense_Mutation_p.S897P|CACNA1E_uc009wxt.2_Missense_Mutation_p.S897P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1671	Extracellular (Potential).|IV.				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						GATTATGCTGTCATGCCTTGG	0.557												
RGL1	23179	broad.mit.edu	37	1	183881389	183881389	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:183881389A>G	uc001gqo.2	+	15	1893	c.1736A>G	c.(1735-1737)GAG>GGG	p.E579G	RGL1_uc010pof.1_Missense_Mutation_p.E384G|RGL1_uc001gqm.2_Missense_Mutation_p.E614G|RGL1_uc010pog.1_Missense_Mutation_p.E577G|RGL1_uc010poh.1_Missense_Mutation_p.E577G|RGL1_uc010poi.1_Missense_Mutation_p.E550G	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	579	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						ACCCCTGATGAGCCTCAAAAA	0.488												
C1orf25	81627	broad.mit.edu	37	1	185108537	185108537	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:185108537C>A	uc001grf.3	-	9	1556	c.1284G>T	c.(1282-1284)AAG>AAT	p.K428N	C1orf25_uc010pon.1_Missense_Mutation_p.K272N	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	428						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						CTGCTAGTTCCTTGTAATATT	0.403												
ZBTB41	360023	broad.mit.edu	37	1	197169466	197169466	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:197169466T>G	uc001gtx.1	-	1	207	c.138A>C	c.(136-138)GAA>GAC	p.E46D	ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AGTGAAGAGCTTCAGGAGTTG	0.388												
KIF14	9928	broad.mit.edu	37	1	200522536	200522536	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:200522536T>C	uc010ppk.1	-	30	5366	c.4927A>G	c.(4927-4929)AGT>GGT	p.S1643G	KIF14_uc010ppj.1_Missense_Mutation_p.S1152G	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1643	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TGAATCCTACTGGGTGTGCAT	0.463												
KIF14	9928	broad.mit.edu	37	1	200574463	200574463	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:200574463T>A	uc010ppk.1	-	8	2133	c.1694A>T	c.(1693-1695)GAT>GTT	p.D565V	KIF14_uc010ppj.1_Missense_Mutation_p.D74V	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	565	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						GGAACTTTTATCATTCATACC	0.393												
C1orf106	55765	broad.mit.edu	37	1	200880605	200880605	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:200880605T>C	uc001gvo.2	+	9	1269	c.1239T>C	c.(1237-1239)CCT>CCC	p.P413P	C1orf106_uc010ppm.1_Silent_p.P328P	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	413										skin(2)|ovary(1)	3						GGGCGGGTCCTGAGGGCCGAG	0.662												
TNNI1	7135	broad.mit.edu	37	1	201380608	201380608	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:201380608C>T	uc010ppq.1	-	7	426	c.333G>A	c.(331-333)CCG>CCA	p.P111P	TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Silent_p.P90P	NM_003281	NP_003272	P19237	TNNI1_HUMAN	troponin I, skeletal, slow	111	Involved in binding TNC and actin.				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0						GACGCAGGGGCGGGCGCTTGA	0.632												
LGR6	59352	broad.mit.edu	37	1	202249955	202249955	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:202249955G>A	uc001gxu.2	+	6	691	c.691G>A	c.(691-693)GAG>AAG	p.E231K	LGR6_uc001gxv.2_Missense_Mutation_p.E179K|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	231	LRR 6.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						CCACAGCTTCGAGGGGCTGCA	0.572												
LRRN2	10446	broad.mit.edu	37	1	204588977	204588977	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:204588977G>A	uc001hbe.1	-	3	532	c.144C>T	c.(142-144)CGC>CGT	p.R48R	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.R48R|LRRN2_uc009xbf.1_Silent_p.R48R|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	48	Extracellular (Potential).|LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTAGCCTCGCGGTAGGACG	0.657												
CR2	1380	broad.mit.edu	37	1	207649616	207649616	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:207649616C>T	uc001hfw.2	+	14	2671	c.2577C>T	c.(2575-2577)AAC>AAT	p.N859N	CR2_uc001hfv.2_Silent_p.N918N|CR2_uc009xch.2_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	859	Sushi 14.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						AGACCCCTAACGGGAACCATA	0.502												
PLXNA2	5362	broad.mit.edu	37	1	208390884	208390884	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:208390884G>T	uc001hgz.2	-	2	1142	c.384C>A	c.(382-384)GCC>GCA	p.A128A	PLXNA2_uc001hha.3_Silent_p.A182A	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	128	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCTCCCACAGGCCAGCAGGC	0.592												
KCNH1	3756	broad.mit.edu	37	1	211256135	211256135	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:211256135G>T	uc001hib.2	-	5	715	c.545C>A	c.(544-546)TCC>TAC	p.S182Y	KCNH1_uc001hic.2_Missense_Mutation_p.S182Y	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	182	Cytoplasmic (Potential).				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)		TGCCAGGCGGGAGTGCTTGTG	0.527												
PPP2R5A	5525	broad.mit.edu	37	1	212506874	212506874	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:212506874T>C	uc001hjb.2	+	3	988	c.414T>C	c.(412-414)AGT>AGC	p.S138S	PPP2R5A_uc010ptd.1_Silent_p.S79S	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	138					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTCCTCCAAGTGATAATCCAG	0.378												
PROX1	5629	broad.mit.edu	37	1	214170404	214170404	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:214170404A>G	uc001hkh.2	+	2	798	c.526A>G	c.(526-528)ATG>GTG	p.M176V	PROX1_uc001hkg.1_Missense_Mutation_p.M176V	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	176					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AATTCGGGGTATGAGCCATTC	0.502												
PROX1	5629	broad.mit.edu	37	1	214170994	214170994	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:214170994G>T	uc001hkh.2	+	2	1388	c.1116G>T	c.(1114-1116)TCG>TCT	p.S372S	PROX1_uc001hkg.1_Silent_p.S372S	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	372					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAGTCTTTTCGGCCAAGCCCT	0.532												
USH2A	7399	broad.mit.edu	37	1	216062234	216062234	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:216062234G>C	uc001hku.1	-	41	8144	c.7757C>G	c.(7756-7758)ACA>AGA	p.T2586R		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2586	Fibronectin type-III 12.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGCATCACTGTGCAATTAGT	0.423										HNSCC(13;0.011)		
GPATCH2	55105	broad.mit.edu	37	1	217793649	217793649	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:217793649C>T	uc001hlf.1	-	2	345	c.249G>A	c.(247-249)GAG>GAA	p.E83E	GPATCH2_uc001hlg.3_Silent_p.E83E	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	83						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AGTGACCAGTCTCCCACGGGT	0.438												
LYPLAL1	127018	broad.mit.edu	37	1	219352518	219352518	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:219352518A>G	uc001hlq.3	+	2	162	c.121A>G	c.(121-123)ATC>GTC	p.I41V	LYPLAL1_uc001hlr.3_Missense_Mutation_p.I41V|LYPLAL1_uc001hls.3_5'UTR|LYPLAL1_uc001hlt.3_5'UTR|LYPLAL1_uc009xds.2_Missense_Mutation_p.I41V	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	41						cytoplasm	lysophospholipase activity				0				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		AAGAATGTGGATCAAGCAGGT	0.299												
SLC30A10	55532	broad.mit.edu	37	1	220101753	220101753	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:220101753C>T	uc001hlw.2	-	1	241	c.30G>A	c.(28-30)CGG>CGA	p.R10R	SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlx.2_5'UTR	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	10	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TGAAGAGCAGCCGGCACGTCT	0.592												
MIA3	375056	broad.mit.edu	37	1	222803217	222803217	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:222803217G>A	uc001hnl.2	+	4	2664	c.2655G>A	c.(2653-2655)AAG>AAA	p.K885K	MIA3_uc009xea.1_Silent_p.K721K	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	885	Extracellular (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)		ACACAGAGAAGTACATGGGCA	0.522												
C1orf58	148362	broad.mit.edu	37	1	222889064	222889064	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:222889064A>G	uc001hnq.1	+	2	418	c.23A>G	c.(22-24)AAC>AGC	p.N8S	AIDA_uc001hno.2_5'Flank|AIDA_uc010pus.1_5'Flank|C1orf58_uc010put.1_Missense_Mutation_p.N8S|C1orf58_uc010puu.1_Missense_Mutation_p.N8S|C1orf58_uc010puv.1_Missense_Mutation_p.N8S	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Bro1-domain-containing protein	8						membrane					0				GBM - Glioblastoma multiforme(131;0.0667)		TTTCATAGGAACCCATTAAAA	0.299												
DISP1	84976	broad.mit.edu	37	1	223177683	223177683	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:223177683G>A	uc001hnu.1	+	8	3091	c.2944G>A	c.(2944-2946)GAT>AAT	p.D982N		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	982					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TAGCCTCTCCGATGGCACCCT	0.507												
TLR5	7100	broad.mit.edu	37	1	223284384	223284384	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:223284384G>A	uc001hnv.1	-	4	2436	c.1990C>T	c.(1990-1992)CGG>TGG	p.R664W	TLR5_uc001hnw.1_Missense_Mutation_p.R664W	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	664	Cytoplasmic (Potential).		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		CAGAAGCCCCGGAACTTTGTG	0.443												
NVL	4931	broad.mit.edu	37	1	224491429	224491429	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:224491429G>A	uc001hok.2	-	9	999	c.956C>T	c.(955-957)GCT>GTT	p.A319V	NVL_uc001hol.2_Missense_Mutation_p.A213V|NVL_uc010pvd.1_Missense_Mutation_p.A228V|NVL_uc010pve.1_Missense_Mutation_p.A103V|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	319						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		CCTCACCCCAGCAATTGCATG	0.448												
TMEM63A	9725	broad.mit.edu	37	1	226044664	226044664	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:226044664G>A	uc001hpm.1	-	16	1681	c.1431C>T	c.(1429-1431)GCC>GCT	p.A477A		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	477	Helical; (Potential).					integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					AGGGGAGCAGGGCCGAGAAGG	0.602												
LEFTY1	10637	broad.mit.edu	37	1	226109261	226109261	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:226109261C>A	uc010pvj.1	-	4	557	c.402G>T	c.(400-402)CAG>CAT	p.Q134H	PYCR2_uc001hpp.2_Intron|PYCR2_uc001hpq.2_Missense_Mutation_p.Q208H|PYCR2_uc001hpr.2_Missense_Mutation_p.Q161H			O75610	LFTY1_HUMAN	SubName: Full=cDNA FLJ54750, moderately similar to Pyrroline-5-carboxylate reductase 2 (EC 1.5.1.2);	Error:Variant_position_missing_in_O75610_after_alignment					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					CCAGCAAAGCCTGGGCCCCGA	0.572												
ITPKB	3707	broad.mit.edu	37	1	226923840	226923840	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:226923840G>A	uc010pvo.1	-	2	1660	c.1320C>T	c.(1318-1320)TCC>TCT	p.S440S	ITPKB_uc001hqh.2_Silent_p.S440S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	440							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				CCACTCTGTCGGAGAGCTGCC	0.706												
CABC1	56997	broad.mit.edu	37	1	227153002	227153002	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:227153002G>A	uc001hqm.1	+	8	3898	c.479G>A	c.(478-480)CGA>CAA	p.R160Q	CABC1_uc010pvp.1_Missense_Mutation_p.R123Q|CABC1_uc001hqn.1_Missense_Mutation_p.R160Q|CABC1_uc009xeq.1_Missense_Mutation_p.R108Q|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	160					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				GGCTTTCAGCGAAGGTTCTTC	0.637												
ZNF678	339500	broad.mit.edu	37	1	227842415	227842415	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:227842415G>A	uc001hqw.1	+	4	809	c.464G>A	c.(463-465)TGT>TAT	p.C155Y	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	210					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			pancreas(1)	1		Prostate(94;0.0885)				CCCTACAAATGTGACGAATGT	0.348												
PGBD5	79605	broad.mit.edu	37	1	230492738	230492738	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:230492738G>A	uc010pwb.1	-	2	454	c.454C>T	c.(454-456)CGC>TGC	p.R152C	PGBD5_uc001htv.2_Missense_Mutation_p.R251C	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	152						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGGCTGGAGCGGAAGGCCACG	0.617												
SIPA1L2	57568	broad.mit.edu	37	1	232581284	232581284	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:232581284T>C	uc001hvg.2	-	9	3502	c.3344A>G	c.(3343-3345)GAT>GGT	p.D1115G	SIPA1L2_uc001hvf.2_Missense_Mutation_p.D189G	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1115					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCTCGTGCCATCGGGCAGCTT	0.602												
KIAA1383	54627	broad.mit.edu	37	1	232941435	232941435	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:232941435C>T	uc001hvh.2	+	1	798	c.666C>T	c.(664-666)GCC>GCT	p.A222A		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	80										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CTCCCGCCGCCGAACCGTGGC	0.726												
LYST	1130	broad.mit.edu	37	1	235929422	235929422	+	Silent	SNP	G	G	A	rs80338660		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:235929422G>A	uc001hxj.2	-	21	6253	c.6078C>T	c.(6076-6078)TAC>TAT	p.Y2026Y	LYST_uc009xgb.1_Intron|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2026					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTGACAAACGTAAGTATTAG	0.343									Chediak-Higashi_syndrome			
SDCCAG8	10806	broad.mit.edu	37	1	243437869	243437869	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:243437869A>G	uc001hzw.2	+	4	487	c.331A>G	c.(331-333)AAT>GAT	p.N111D	SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	111					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TGAGGAAACCAATATGCCTAC	0.289												
C1orf100	200159	broad.mit.edu	37	1	244538703	244538703	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:244538703T>C	uc001iah.2	+	3	199	c.86T>C	c.(85-87)GTT>GCT	p.V29A	C1orf100_uc001iai.2_Missense_Mutation_p.V29A	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	hypothetical protein LOC200159	29											0	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			GGAAGAGACGTTCAAGGCTAT	0.458												
TFB2M	64216	broad.mit.edu	37	1	246729200	246729200	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:246729200C>T	uc001ibn.2	-	1	366	c.241G>A	c.(241-243)GCT>ACT	p.A81T	CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	81					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGGGTCTCAGCCAATCTCCGA	0.522												
AHCTF1	25909	broad.mit.edu	37	1	247014591	247014591	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:247014591T>C	uc001ibu.1	-	32	4724	c.4717A>G	c.(4717-4719)ACT>GCT	p.T1573A	AHCTF1_uc001ibv.1_Missense_Mutation_p.T1582A|AHCTF1_uc009xgs.1_Missense_Mutation_p.T434A|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1573	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-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)			CATTCAGCAGTGTCTTTGTTA	0.383												
ZNF124	7678	broad.mit.edu	37	1	247320277	247320277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:247320277C>T	uc001ick.2	-	4	786	c.647G>A	c.(646-648)CGT>CAT	p.R216H	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.R154H	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	216	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			ATTGGAGTAACGGAAGGCTTT	0.453												
LARP4B	23185	broad.mit.edu	37	10	860914	860914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:860914G>A	uc001ifs.1	-	15	1833	c.1792C>T	c.(1792-1794)CGA>TGA	p.R598*		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	598							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						GAGGGGGATCGCTCGTACGTT	0.547												
SFMBT2	57713	broad.mit.edu	37	10	7213935	7213935	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:7213935T>C	uc009xio.1	-	19	2428	c.2337A>G	c.(2335-2337)CGA>CGG	p.R779R	SFMBT2_uc001ijn.1_Silent_p.R779R|SFMBT2_uc010qay.1_Silent_p.R614R	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	779					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CGCGGCCCCTTCGTGTCCTCT	0.756												
ITIH2	3698	broad.mit.edu	37	10	7774331	7774331	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:7774331G>T	uc001ijs.2	+	14	1840	c.1678G>T	c.(1678-1680)GCC>TCC	p.A560S		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	560					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						GGAGACCCTGGCCCAGATGGA	0.448												
CCDC3	83643	broad.mit.edu	37	10	13040383	13040383	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:13040383C>A	uc001ilq.1	-	2	638	c.504G>T	c.(502-504)CAG>CAT	p.Q168H	CCDC3_uc009xjb.1_Intron|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_Intron	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3 precursor	168						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			AAGTCGCCAGCTGCTGCCCTT	0.458												
NMT2	9397	broad.mit.edu	37	10	15161388	15161388	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:15161388T>G	uc001inz.1	-	9	1208	c.1124A>C	c.(1123-1125)CAC>CCC	p.H375P	NMT2_uc001ioa.1_Missense_Mutation_p.H362P|NMT2_uc009xjo.1_Missense_Mutation_p.H375P|NMT2_uc010qbz.1_Missense_Mutation_p.H187P	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	375					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						GAGGAACCAGTGGGCTACTTC	0.368												
ITGA8	8516	broad.mit.edu	37	10	15760807	15760807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:15760807C>A	uc001ioc.1	-	2	301	c.301G>T	c.(301-303)GAG>TAG	p.E101*	ITGA8_uc010qcb.1_Nonsense_Mutation_p.E101*	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	101	Extracellular (Potential).|FG-GAP 1.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GCAGACCCCTCCGCGGGCCAA	0.587												
CACNB2	783	broad.mit.edu	37	10	18803225	18803225	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:18803225G>A	uc001ipr.2	+	7	791	c.731G>A	c.(730-732)CGC>CAC	p.R244H	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Intron|CACNB2_uc001ipt.2_Intron|CACNB2_uc010qcl.1_Intron|CACNB2_uc001ipu.2_Missense_Mutation_p.R216H|CACNB2_uc001ipv.2_Intron|CACNB2_uc009xka.1_Intron|CACNB2_uc001ipw.2_Intron|CACNB2_uc001ipx.2_Missense_Mutation_p.R189H|CACNB2_uc009xkb.1_Intron|CACNB2_uc010qcm.1_Missense_Mutation_p.R190H|CACNB2_uc001ipz.2_Intron|CACNB2_uc001ipy.2_Missense_Mutation_p.R190H|CACNB2_uc010qcn.1_Intron|CACNB2_uc010qco.1_Intron|CACNB2_uc001iqa.2_Missense_Mutation_p.R196H|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	244					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAAACCACCGCTCCCCTAAA	0.428												
KIAA1217	56243	broad.mit.edu	37	10	24508698	24508698	+	Missense_Mutation	SNP	C	C	G	rs145488505		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:24508698C>G	uc001iru.3	+	2	617	c.214C>G	c.(214-216)CCC>GCC	p.P72A	KIAA1217_uc001irs.2_5'UTR|KIAA1217_uc001irt.3_Missense_Mutation_p.P72A|KIAA1217_uc010qcy.1_Missense_Mutation_p.P72A|KIAA1217_uc010qcz.1_Missense_Mutation_p.P72A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	72					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CCTAGGGGGGCCCCGAAGTTC	0.512												
YME1L1	10730	broad.mit.edu	37	10	27411773	27411773	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:27411773T>C	uc001iti.2	-	12	1585	c.1403A>G	c.(1402-1404)GAT>GGT	p.D468G	YME1L1_uc001itj.2_Missense_Mutation_p.D411G|YME1L1_uc010qdl.1_Missense_Mutation_p.D378G|YME1L1_uc009xkv.2_Intron	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	468					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						CAATTACCCATCCATTTCAGC	0.338												
FZD8	8325	broad.mit.edu	37	10	35929556	35929556	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:35929556A>G	uc001iyz.1	-	1	807	c.802T>C	c.(802-804)TTT>CTT	p.F268L		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	268	Extracellular (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						TGGCTGAAAAAGGGGTTGTGG	0.637												
FRMPD2	143162	broad.mit.edu	37	10	49420083	49420083	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:49420083C>T	uc001jgi.2	-	13	1632	c.1525G>A	c.(1525-1527)GCT>ACT	p.A509T	FRMPD2_uc001jgh.2_Missense_Mutation_p.A477T|FRMPD2_uc001jgj.2_Missense_Mutation_p.A487T	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	509	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		ACCCGTAGAGCGGTCATCCTC	0.532												
PRKG1	5592	broad.mit.edu	37	10	52751304	52751304	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:52751304C>A	uc001jjm.2	+	1	360	c.166C>A	c.(166-168)CCC>ACC	p.P56T	PRKG1_uc010qhp.1_Missense_Mutation_p.P56T	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	56	Dimerization.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCACATCGGCCCCCGGACCAC	0.617												
PHYHIPL	84457	broad.mit.edu	37	10	60996388	60996388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:60996388G>A	uc001jkk.3	+	3	715	c.449G>A	c.(448-450)TGG>TAG	p.W150*	PHYHIPL_uc001jkl.3_Nonsense_Mutation_p.W104*|PHYHIPL_uc001jkm.3_Nonsense_Mutation_p.W124*	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	150	Fibronectin type-III.										0						GTGTCTGAATGGAGTGAAATT	0.373												
ANK3	288	broad.mit.edu	37	10	61868786	61868786	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:61868786G>A	uc001jky.2	-	27	3167	c.2975C>T	c.(2974-2976)GCG>GTG	p.A992V	ANK3_uc001jkw.2_Missense_Mutation_p.A126V|ANK3_uc009xpa.2_Missense_Mutation_p.A126V|ANK3_uc001jkx.2_Missense_Mutation_p.A170V|ANK3_uc010qih.1_Missense_Mutation_p.A993V|ANK3_uc001jkz.3_Missense_Mutation_p.A986V|ANK3_uc001jla.1_Missense_Mutation_p.A58V|ANK3_uc001jlb.1_Missense_Mutation_p.A510V	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	992	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCCCCCTCTCGCGTCCACCAT	0.507												
LRRTM3	347731	broad.mit.edu	37	10	68687080	68687080	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:68687080C>T	uc001jmz.1	+	2	956	c.406C>T	c.(406-408)CGG>TGG	p.R136W	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R136W	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	136	Extracellular (Potential).|LRR 4.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GACAAATTTACGGAACTTGGA	0.408												
ADAMTS14	140766	broad.mit.edu	37	10	72462141	72462141	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:72462141C>T	uc001jrh.2	+	3	596	c.596C>T	c.(595-597)GCC>GTC	p.A199V	ADAMTS14_uc001jrg.2_Missense_Mutation_p.A199V	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	199					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GAGAAGGAGGCCAGCGGGAGG	0.647												
CDH23	64072	broad.mit.edu	37	10	73270887	73270887	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:73270887G>A	uc001jrx.3	+	6	724	c.347G>A	c.(346-348)CGG>CAG	p.R116Q	CDH23_uc001jrw.3_Missense_Mutation_p.R116Q|CDH23_uc001jrv.2_Missense_Mutation_p.R111Q|CDH23_uc009xql.2_Missense_Mutation_p.R161Q	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	116	Cadherin 1.|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						GTGATCACACGGAAGGTGAAC	0.577												
CDH23	64072	broad.mit.edu	37	10	73501453	73501453	+	Silent	SNP	C	C	T	rs111033490		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:73501453C>T	uc001jrx.3	+	36	4997	c.4620C>T	c.(4618-4620)AAC>AAT	p.N1540N	CDH23_uc001jsc.1_Silent_p.N347N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1540	Cadherin 15.|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						CCTCCCAGAACGTGGGTGGAG	0.587												
SYNPO2L	79933	broad.mit.edu	37	10	75407024	75407024	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:75407024G>A	uc001jut.3	-	4	2538	c.2386C>T	c.(2386-2388)CCC>TCC	p.P796S	SYNPO2L_uc001jus.3_Missense_Mutation_p.P572S	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	796	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					CAGGAAGGGGGCAGAGACGGG	0.602												
ZNF503	84858	broad.mit.edu	37	10	77158837	77158837	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:77158837G>A	uc001jxg.2	-	2	1947	c.1611C>T	c.(1609-1611)AGC>AGT	p.S537S	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	537	C2H2-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TCCGCAAGTGGCTCAGCAGCT	0.647												
KCNMA1	3778	broad.mit.edu	37	10	78647039	78647039	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:78647039C>A	uc001jxn.2	-	28	3873	c.3696G>T	c.(3694-3696)CAG>CAT	p.Q1232H	KCNMA1_uc001jxj.2_Intron|KCNMA1_uc001jxk.1_Intron|KCNMA1_uc009xrt.1_Intron|KCNMA1_uc001jxl.1_Missense_Mutation_p.Q857H|KCNMA1_uc001jxo.2_Missense_Mutation_p.Q1215H|KCNMA1_uc001jxm.2_Missense_Mutation_p.Q1174H|KCNMA1_uc001jxq.2_Missense_Mutation_p.Q1204H|uc001jxp.2_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1232	Cytoplasmic (Potential).			YVQEERL -> KEMVYR (in Ref. 3; CAI39730/ CAI40870/CAI14074/CAI16162).	cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GCCGCTCTTCCTGCACGTACT	0.517												
MAT1A	4143	broad.mit.edu	37	10	82049113	82049113	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:82049113C>T	uc001kbw.2	-	1	322	c.67G>A	c.(67-69)GAG>AAG	p.E23K		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	23					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)	CCCACAGACTCCGATGTGAAC	0.488												
PLCE1	51196	broad.mit.edu	37	10	95891942	95891942	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:95891942A>G	uc001kjk.2	+	3	1852	c.1218A>G	c.(1216-1218)GCA>GCG	p.A406A	PLCE1_uc010qnx.1_Silent_p.A406A|PLCE1_uc001kjm.2_Silent_p.A98A	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	406					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TCTACAATGCAGTGAGAAGAG	0.403												
PLCE1	51196	broad.mit.edu	37	10	96006283	96006283	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:96006283G>A	uc001kjk.2	+	8	3635	c.3001G>A	c.(3001-3003)GGA>AGA	p.G1001R	PLCE1_uc010qnx.1_Missense_Mutation_p.G1001R|PLCE1_uc001kjm.2_Missense_Mutation_p.G693R	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1001					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GCTCTTCAGCGGATTATTGGA	0.473												
PLCE1	51196	broad.mit.edu	37	10	96039636	96039636	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:96039636A>G	uc001kjk.2	+	20	5397	c.4763A>G	c.(4762-4764)GAA>GGA	p.E1588G	PLCE1_uc010qnx.1_Missense_Mutation_p.E1572G|PLCE1_uc001kjm.2_Missense_Mutation_p.E1280G|uc001kjo.1_RNA	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1588					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GAGGAGGACGAATATGATTAT	0.433											OREG0020383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PIK3AP1	118788	broad.mit.edu	37	10	98412547	98412547	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:98412547G>A	uc001kmq.2	-	4	748	c.620C>T	c.(619-621)GCG>GTG	p.A207V	PIK3AP1_uc001kmp.2_Missense_Mutation_p.A29V	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	207	DBB.					cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGCTTCTGTCGCCACCCTGTC	0.507												
LZTS2	84445	broad.mit.edu	37	10	102763509	102763509	+	Silent	SNP	C	C	T	rs78785945	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:102763509C>T	uc001ksj.2	+	3	723	c.654C>T	c.(652-654)TCC>TCT	p.S218S	LZTS2_uc010qpw.1_Silent_p.S218S|LZTS2_uc001ksk.2_Silent_p.S218S|LZTS2_uc001ksl.2_Silent_p.S218S|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	218	Ser-rich.|Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGACGCTATCCGACTCTGGCC	0.552												
NEURL	9148	broad.mit.edu	37	10	105344877	105344877	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:105344877A>G	uc001kxh.2	+	4	1644	c.1234A>G	c.(1234-1236)AGC>GGC	p.S412G		NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	412	NHR 2.				nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCTGCACCTCAGCCACAATGG	0.697												
ADRB1	153	broad.mit.edu	37	10	115804702	115804702	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:115804702C>T	uc001lba.2	+	1	897	c.811C>T	c.(811-813)CGG>TGG	p.R271W		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	271	Cytoplasmic (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CGGCCCAGCGCGGccgccctc	0.408												
TRUB1	142940	broad.mit.edu	37	10	116730145	116730145	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:116730145A>G	uc001lcd.2	+	5	603	c.542A>G	c.(541-543)GAT>GGT	p.D181G	TRUB1_uc010qsl.1_Missense_Mutation_p.D83G	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	181					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ACACAAGAAGATATTGAAGGC	0.328												
VAX1	11023	broad.mit.edu	37	10	118896101	118896101	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:118896101C>T	uc009xyx.2	-	2	556	c.311G>A	c.(310-312)CGC>CAC	p.R104H	VAX1_uc001ldb.1_Missense_Mutation_p.R104H	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	104	Homeobox.					nucleus	sequence-specific DNA binding			ovary(2)	2				all cancers(201;0.0108)		GAAGGACGTGCGCGTCCTCTT	0.652												
EIF3A	8661	broad.mit.edu	37	10	120801864	120801864	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:120801864C>T	uc001ldu.2	-	19	3314	c.3168G>A	c.(3166-3168)GAG>GAA	p.E1056E	EIF3A_uc010qsu.1_Silent_p.E1022E|EIF3A_uc009xzg.1_Silent_p.E95E	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1056	14.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGGATGATCGCTCATCATCAG	0.612												
ATE1	11101	broad.mit.edu	37	10	123683794	123683794	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:123683794G>T	uc001lfp.2	-	2	239	c.157C>A	c.(157-159)CGA>AGA	p.R53R	ATE1_uc001lfq.2_Silent_p.R53R|ATE1_uc010qtr.1_5'UTR|ATE1_uc010qts.1_Intron|ATE1_uc010qtt.1_Silent_p.R46R|ATE1_uc001lfr.2_5'UTR|ATE1_uc009xzu.2_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	arginyltransferase 1 isoform 2	53					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity				0		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CGCCATCCTCGGTCTATGAGA	0.408												
CPXM2	119587	broad.mit.edu	37	10	125521573	125521573	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:125521573C>T	uc001lhk.1	-	11	1917	c.1592G>A	c.(1591-1593)CGG>CAG	p.R531Q	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	531					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		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)		CCAGGGGGACCGCACCAGGTC	0.632												
FAM175B	23172	broad.mit.edu	37	10	126495401	126495401	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:126495401A>G	uc001lib.3	+	2	119	c.74A>G	c.(73-75)GAA>GGA	p.E25G		NM_032182	NP_115558	Q15018	F175B_HUMAN	hypothetical protein LOC23172	25	MPN-like.					BRISC complex	polyubiquitin binding				0						TACTTTTAGGAAGGATTTTTA	0.289												
MKI67	4288	broad.mit.edu	37	10	129905447	129905447	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:129905447C>T	uc001lke.2	-	13	4852	c.4657G>A	c.(4657-4659)GCA>ACA	p.A1553T	MKI67_uc001lkf.2_Missense_Mutation_p.A1193T|MKI67_uc009yav.1_Missense_Mutation_p.A1128T|MKI67_uc009yaw.1_Missense_Mutation_p.A703T	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1553	5.|16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCCATAAATGCGTAGATGTTT	0.483												
EBF3	253738	broad.mit.edu	37	10	131761786	131761786	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:131761786C>T	uc001lki.1	-	2	195	c.136G>A	c.(136-138)GGC>AGC	p.G46S	EBF3_uc010qur.1_Missense_Mutation_p.G32S	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	46					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AGCCCCACGCCGCTGCGGGAG	0.438												
PWWP2B	170394	broad.mit.edu	37	10	134218325	134218325	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:134218325G>A	uc001lll.3	+	2	350	c.321G>A	c.(319-321)CCG>CCA	p.P107P	PWWP2B_uc009ybe.2_Silent_p.P107P	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	107	Pro-rich.										0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCTCGTGCCGCCGCTGCCCG	0.736												
ATHL1	80162	broad.mit.edu	37	11	294564	294564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:294564G>A	uc010qvu.1	+	14	2144	c.2029G>A	c.(2029-2031)GTC>ATC	p.V677I	ATHL1_uc001lor.3_Missense_Mutation_p.V429I|ATHL1_uc001lou.3_Missense_Mutation_p.V252I|ATHL1_uc001lov.3_Missense_Mutation_p.V138I	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	677					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGACACAAGGTCTCCTTTCC	0.622												
B4GALNT4	338707	broad.mit.edu	37	11	377213	377213	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:377213G>A	uc001lpb.2	+	14	2099	c.2090G>A	c.(2089-2091)CGC>CAC	p.R697H		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	697	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGCTGCTGCGCTCGGACTGG	0.697												
RNH1	6050	broad.mit.edu	37	11	498027	498027	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:498027G>A	uc001lpk.1	-	7	2479	c.1071C>T	c.(1069-1071)GGC>GGT	p.G357G	RNH1_uc001lpl.1_Silent_p.G357G|RNH1_uc001lpm.1_Silent_p.G357G|RNH1_uc001lpn.1_Silent_p.G357G|RNH1_uc001lpo.1_Silent_p.G357G|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.G357G|RNH1_uc001lpt.1_Silent_p.G114G|RNH1_uc001lpq.1_Silent_p.G357G|RNH1_uc001lpr.1_Silent_p.G357G|RNH1_uc001lps.1_Silent_p.G357G	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	357	LRR 12.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTCCCGCACGCCCGCATCCT	0.607												
MUC6	4588	broad.mit.edu	37	11	1025844	1025844	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:1025844G>A	uc001lsw.2	-	22	2811	c.2760C>T	c.(2758-2760)TCC>TCT	p.S920S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	920	VWFD 3.				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)		ATGTGACCCCGGAGTTCCCAC	0.642												
MUC2	4583	broad.mit.edu	37	11	1094755	1094755	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:1094755C>T	uc001lsx.1	+	34	12956	c.12929C>T	c.(12928-12930)ACG>ATG	p.T4310M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4310						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGACCCCAACGCCGACCCCA	0.632												
SYT8	90019	broad.mit.edu	37	11	1858494	1858494	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:1858494C>A	uc001lue.1	+	9	1167	c.1039C>A	c.(1039-1041)CTG>ATG	p.L347M	SYT8_uc001lud.2_Missense_Mutation_p.L347M|SYT8_uc001luf.1_Missense_Mutation_p.L333M|TNNI2_uc010qxc.1_5'Flank|TNNI2_uc010qxd.1_5'Flank|TNNI2_uc010qxe.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	347	Cytoplasmic (Potential).					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAAGGTGCACCTGGGTGCCCG	0.711												
NUP98	4928	broad.mit.edu	37	11	3697576	3697576	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:3697576C>T	uc001lyh.2	-	33	5507	c.5216G>A	c.(5215-5217)CGC>CAC	p.R1739H	NUP98_uc001lyi.2_Missense_Mutation_p.R1665H|NUP98_uc001lyg.2_Missense_Mutation_p.R704H	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1756					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAGCACCACGCGCAGCAGGTT	0.577			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
STIM1	6786	broad.mit.edu	37	11	3877513	3877513	+	Missense_Mutation	SNP	G	G	A	rs150529970		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:3877513G>A	uc001lyv.2	+	1	581	c.13G>A	c.(13-15)GTC>ATC	p.V5I	STIM1_uc009yef.2_Missense_Mutation_p.V5I	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	5					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGATGTATGCGTCCGTCTTGC	0.622												
OR51L1	119682	broad.mit.edu	37	11	5020589	5020589	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5020589T>C	uc010qyu.1	+	1	377	c.377T>C	c.(376-378)GTT>GCT	p.V126A		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACCGTTTTGTTGCTATCTGC	0.493												
OR51B6	390058	broad.mit.edu	37	11	5373560	5373560	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5373560A>T	uc010qzb.1	+	1	823	c.823A>T	c.(823-825)AGC>TGC	p.S275C	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	275	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCACAATGAGCTACATCCA	0.393												
OR52N2	390077	broad.mit.edu	37	11	5841795	5841795	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5841795C>T	uc010qzp.1	+	1	230	c.230C>T	c.(229-231)ACC>ATC	p.T77I	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTTGTGCACCACCATGGTA	0.517												
OR52N2	390077	broad.mit.edu	37	11	5841886	5841886	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5841886T>C	uc010qzp.1	+	1	321	c.321T>C	c.(319-321)CAT>CAC	p.H107H	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTTTGTCCATATGCTGACAG	0.522												
OR52E8	390079	broad.mit.edu	37	11	5878878	5878878	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5878878G>T	uc010qzr.1	-	1	55	c.55C>A	c.(55-57)CTA>ATA	p.L19I	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCAGCAGTAGGAATGAAGAA	0.448												
CCKBR	887	broad.mit.edu	37	11	6291484	6291484	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:6291484C>T	uc001mcp.2	+	3	763	c.570C>T	c.(568-570)CCC>CCT	p.P190P	CCKBR_uc001mcq.2_Silent_p.P118P|CCKBR_uc001mcr.2_Silent_p.P190P|CCKBR_uc001mcs.2_Silent_p.P190P|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	190	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCCCTACCCCGTGTACACTG	0.657												
DNHD1	144132	broad.mit.edu	37	11	6592577	6592577	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:6592577C>A	uc001mdw.3	+	42	14399	c.13835C>A	c.(13834-13836)CCT>CAT	p.P4612H	DNHD1_uc001mea.3_Missense_Mutation_p.P881H|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.P880H|DNHD1_uc010rao.1_Missense_Mutation_p.P870H|DNHD1_uc009yfg.2_Missense_Mutation_p.P237H	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4612					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)		TCGAATTTCCCTGGTAGCCGA	0.617												
WEE1	7465	broad.mit.edu	37	11	9598763	9598763	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:9598763C>T	uc001mhs.2	+	5	1347	c.1094C>T	c.(1093-1095)GCG>GTG	p.A365V	WEE1_uc001mht.2_Missense_Mutation_p.A151V|WEE1_uc001mhu.2_Missense_Mutation_p.A151V	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	365	Protein kinase.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TATTTCTCTGCGTGGGCAGAA	0.373												
CTR9	9646	broad.mit.edu	37	11	10794800	10794800	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:10794800A>G	uc001mja.2	+	21	2856	c.2707A>G	c.(2707-2709)AGA>GGA	p.R903G		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	903	Lys-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGAGAAGAAAAGAGGTGGTGG	0.403												
DKK3	27122	broad.mit.edu	37	11	12029928	12029928	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:12029928C>T	uc001mju.2	-	1	259	c.202G>A	c.(202-204)GCG>ACG	p.A68T	DKK3_uc010rcf.1_Missense_Mutation_p.A68T|DKK3_uc001mjv.2_Missense_Mutation_p.A68T|DKK3_uc001mjw.2_Missense_Mutation_p.A68T|DKK3_uc010rcg.1_Missense_Mutation_p.A68T|DKK3_uc001mjx.2_Missense_Mutation_p.A68T	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	68	Potential.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		TCTTCCACCGCGCTGCGCAAT	0.667												
SPON1	10418	broad.mit.edu	37	11	14284280	14284280	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:14284280G>T	uc001mle.2	+	16	2557	c.2019G>T	c.(2017-2019)GAG>GAT	p.E673D		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	673	TSP type-1 5.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		AGCTCACCGAGTGGTCCCAGT	0.478												
SOX6	55553	broad.mit.edu	37	11	15994374	15994374	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:15994374T>G	uc001mme.2	-	16	2540	c.2507A>C	c.(2506-2508)GAG>GCG	p.E836A	SOX6_uc001mmd.2_Missense_Mutation_p.E799A|SOX6_uc001mmf.2_Missense_Mutation_p.E796A|SOX6_uc001mmg.2_Missense_Mutation_p.E803A	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	823					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						ACTGACAGCCTCCGGGGCTTC	0.433												
PIK3C2A	5286	broad.mit.edu	37	11	17170280	17170280	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:17170280T>C	uc001mmq.3	-	4	1448	c.1382A>G	c.(1381-1383)GAC>GGC	p.D461G	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.D81G|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.D461G|PIK3C2A_uc009ygv.1_Missense_Mutation_p.D461G	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	461					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	TTGATTCAAGTCATCATGTAC	0.353												
NAV2	89797	broad.mit.edu	37	11	20129269	20129269	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:20129269G>A	uc001mpr.3	+	36	7271	c.6910G>A	c.(6910-6912)GAC>AAC	p.D2304N	NAV2_uc001mpp.2_Missense_Mutation_p.D2237N|NAV2_uc009yhx.2_Missense_Mutation_p.D1365N|NAV2_uc009yhz.2_Missense_Mutation_p.D946N|NAV2_uc001mpu.2_Missense_Mutation_p.D739N|NAV2_uc001mpv.2_Missense_Mutation_p.D63N	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2360						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GTGGTTCACCGACTTGTGGAA	0.552												
ANO5	203859	broad.mit.edu	37	11	22257743	22257743	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:22257743T>C	uc001mqi.2	+	8	1000	c.683T>C	c.(682-684)ATA>ACA	p.I228T	ANO5_uc001mqj.2_Missense_Mutation_p.I227T	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	228	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						CCTTTTGGCATAGAAGATGGG	0.378												
LUZP2	338645	broad.mit.edu	37	11	24927591	24927591	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:24927591G>A	uc001mqs.2	+	6	685	c.451G>A	c.(451-453)GCA>ACA	p.A151T	LUZP2_uc009yif.2_Missense_Mutation_p.A65T|LUZP2_uc009yig.2_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor	151	Potential.					extracellular region				ovary(1)|skin(1)	2						TGGCATTCACGCAGAAGAGGT	0.328												
METT5D1	196074	broad.mit.edu	37	11	28135070	28135070	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:28135070A>T	uc001msh.2	+	3	644	c.189A>T	c.(187-189)AGA>AGT	p.R63S	METT5D1_uc001msg.2_Missense_Mutation_p.R63S|METT5D1_uc001mse.2_Missense_Mutation_p.R63S|METT5D1_uc001msf.1_RNA	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	methyltransferase 5 domain containing 1 isoform	63							methyltransferase activity				0						CTCAAGATAGAGATTTTGAAA	0.358												
SLC1A2	6506	broad.mit.edu	37	11	35287272	35287272	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:35287272A>G	uc001mwd.2	-	10	2047	c.1455T>C	c.(1453-1455)GGT>GGC	p.G485G	SLC1A2_uc001mwe.2_Silent_p.G476G|SLC1A2_uc010rev.1_Silent_p.G485G	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	485					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CAAAAGAGTCACCCACAACAT	0.398												
FJX1	24147	broad.mit.edu	37	11	35640853	35640853	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:35640853G>A	uc001mwh.2	+	1	1119	c.669G>A	c.(667-669)GCG>GCA	p.A223A		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	223						extracellular space					0	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CGCAGTGGGCGCAGGTGCAGG	0.736												
ALKBH3	221120	broad.mit.edu	37	11	43923081	43923081	+	Missense_Mutation	SNP	C	C	T	rs137865466		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:43923081C>T	uc001mxs.2	+	8	918	c.475C>T	c.(475-477)CGC>TGC	p.R159C	ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Missense_Mutation_p.R12C	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	AlkB homolog 3	159					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	CCCTGTGCTGCGCACACTAAA	0.493								Direct_reversal_of_damage				
CD82	3732	broad.mit.edu	37	11	44640247	44640247	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:44640247G>A	uc001myc.2	+	9	948	c.700G>A	c.(700-702)GTG>ATG	p.V234M	CD82_uc001myd.2_Missense_Mutation_p.V209M	NM_002231	NP_002222	P27701	CD82_HUMAN	CD82 antigen isoform 1	234	Helical; (Potential).					integral to plasma membrane	protein binding			ovary(1)	1						CATCCTCGGCGTGGGCGTGGG	0.627												
PHF21A	51317	broad.mit.edu	37	11	45991420	45991420	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:45991420T>C	uc001ncc.3	-	8	1269	c.645A>G	c.(643-645)GTA>GTG	p.V215V	PHF21A_uc001ncb.3_Silent_p.V216V|PHF21A_uc009ykx.2_Silent_p.V216V|PHF21A_uc001nce.2_Silent_p.V216V|PHF21A_uc001nca.1_5'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	215					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						TAAACTGTGGTACTTTGATGG	0.418												
CHRM4	1132	broad.mit.edu	37	11	46407532	46407532	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:46407532G>A	uc001nct.1	-	1	576	c.576C>T	c.(574-576)AAC>AAT	p.N192N		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	192	Extracellular (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TCACTGCTGGGTTGGACAGGA	0.587												
NUP160	23279	broad.mit.edu	37	11	47827774	47827774	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:47827774G>T	uc001ngm.2	-	20	2622	c.2537C>A	c.(2536-2538)CCT>CAT	p.P846H	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	846					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						TTGGCTCAGAGGTGCCTTTGG	0.373												
OR4C15	81309	broad.mit.edu	37	11	55322291	55322291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:55322291C>T	uc010rig.1	+	1	509	c.509C>T	c.(508-510)GCC>GTC	p.A170V		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTCCTCACAGCCATGGCCTAT	0.493										HNSCC(20;0.049)		
OR5W2	390148	broad.mit.edu	37	11	55681359	55681359	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:55681359T>C	uc010rir.1	-	1	700	c.700A>G	c.(700-702)AGG>GGG	p.R234G		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GCTTTGAACCTCCCCTCAGCA	0.418												
OR10AG1	282770	broad.mit.edu	37	11	55735082	55735082	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:55735082T>A	uc010rit.1	-	1	858	c.858A>T	c.(856-858)AAA>AAT	p.K286N		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	286	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					CCATGATATCTTTGTTCCTCA	0.338												
OR8I2	120586	broad.mit.edu	37	11	55861422	55861422	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:55861422C>T	uc010rix.1	+	1	639	c.639C>T	c.(637-639)ATC>ATT	p.I213I		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					TCCTTATCATCACAGTCACTT	0.498												
SMTNL1	219537	broad.mit.edu	37	11	57310769	57310769	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:57310769C>T	uc009ymh.1	+	2	708	c.708C>T	c.(706-708)CCC>CCT	p.P236P		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	218										ovary(1)	1						CCAAGGAGCCCGATGGGAAAG	0.562												
TMEM109	79073	broad.mit.edu	37	11	60687353	60687353	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:60687353G>T	uc001nqg.2	+	2	566	c.188G>T	c.(187-189)GGG>GTG	p.G63V	TMEM109_uc001nqh.2_Missense_Mutation_p.G63V	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	63						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						TCTGTGCGAGGGACACTGGAT	0.522												
SYT7	9066	broad.mit.edu	37	11	61323632	61323632	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:61323632T>G	uc001nrv.2	-	2	85	c.79A>C	c.(79-81)AGC>CGC	p.S27R	SYT7_uc009ynr.2_Missense_Mutation_p.S27R|SYT7_uc001nrx.1_RNA	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	27	Helical; (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						ACGCTAAGGCTGACGGTGATG	0.667												
RAB3IL1	5866	broad.mit.edu	37	11	61675532	61675532	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:61675532C>T	uc001nso.2	-	2	416	c.258G>A	c.(256-258)GCG>GCA	p.A86A	RAB3IL1_uc001nsp.2_Silent_p.A133A	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	86	Potential.						protein binding			skin(2)|central_nervous_system(1)	3						CCACCTTCTGCGCTCTGTGCA	0.642												
INCENP	3619	broad.mit.edu	37	11	61897762	61897762	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:61897762T>C	uc001nsw.1	+	4	965	c.763T>C	c.(763-765)TCT>CCT	p.S255P	INCENP_uc009ynv.2_Missense_Mutation_p.S255P|INCENP_uc009ynw.1_Missense_Mutation_p.S255P|INCENP_uc001nsx.1_Missense_Mutation_p.S255P	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	255					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						GCGGTCTGCGTCTAAGCTCAG	0.647												
AHNAK	79026	broad.mit.edu	37	11	62290261	62290261	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:62290261A>G	uc001ntl.2	-	5	11928	c.11628T>C	c.(11626-11628)CCT>CCC	p.P3876P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3876					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GATCAATGTCAGGCATGGAGA	0.448												
TRPT1	83707	broad.mit.edu	37	11	63992129	63992129	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:63992129G>A	uc001nyo.2	-	5	602	c.388C>T	c.(388-390)CAT>TAT	p.H130Y	TRPT1_uc010rnc.1_Missense_Mutation_p.H130Y|TRPT1_uc010rnd.1_Missense_Mutation_p.H132Y|TRPT1_uc001nyn.2_Missense_Mutation_p.H81Y|TRPT1_uc010rne.1_Missense_Mutation_p.H130Y|TRPT1_uc010rnf.1_Missense_Mutation_p.H130Y|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank|NUDT22_uc010rng.1_5'Flank	NM_001033678	NP_001028850	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1 isoform 1	130							tRNA 2'-phosphotransferase activity				0						AATGTACCATGGACTAGCATC	0.612												
GPR137	56834	broad.mit.edu	37	11	64054482	64054482	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:64054482G>A	uc001nzg.1	+	3	711	c.403G>A	c.(403-405)GGC>AGC	p.G135S	BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Missense_Mutation_p.G141S|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Missense_Mutation_p.G193S|GPR137_uc001nze.1_Missense_Mutation_p.G135S|GPR137_uc001nzf.2_Missense_Mutation_p.G135S|GPR137_uc001nzh.1_Missense_Mutation_p.G135S|GPR137_uc001nzi.2_Missense_Mutation_p.G135S|GPR137_uc010rnj.1_Missense_Mutation_p.G135S	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	135	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1						GATGAGCCGAGGCTTGTAAGT	0.517												
NRXN2	9379	broad.mit.edu	37	11	64418771	64418771	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:64418771G>T	uc001oar.2	-	15	3313	c.2874C>A	c.(2872-2874)AAC>AAA	p.N958K	NRXN2_uc001oas.2_Missense_Mutation_p.N918K|NRXN2_uc001oaq.2_Missense_Mutation_p.N625K	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CGTTGCCCGAGTTGAACAGAA	0.592											OREG0004037|OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
NRXN2	9379	broad.mit.edu	37	11	64453315	64453315	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:64453315G>A	uc001oar.2	-	7	1394	c.955C>T	c.(955-957)CGC>TGC	p.R319C	NRXN2_uc001oas.2_Missense_Mutation_p.R295C|NRXN2_uc001oaq.2_5'UTR	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						TGCAGGGTGCGGAAGGCCAGT	0.567												
DKFZp761E198	91056	broad.mit.edu	37	11	65546326	65546326	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:65546326C>T	uc001ofo.3	-	1	1497	c.1467G>A	c.(1465-1467)AAG>AAA	p.K489K		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	489							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		CATCTGCCACCTTTGCCAGCA	0.627												
YIF1A	10897	broad.mit.edu	37	11	66052202	66052202	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:66052202A>G	uc001ohk.3	-	8	970	c.788T>C	c.(787-789)GTC>GCC	p.V263A	YIF1A_uc001ohj.2_Missense_Mutation_p.V120A	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog	263	Cytoplasmic (Potential).				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane					0						CTGCCGGGGGACGGGGCCCCC	0.652												
CD248	57124	broad.mit.edu	37	11	66083578	66083578	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:66083578C>T	uc001ohm.1	-	1	938	c.921G>A	c.(919-921)CCG>CCA	p.P307P		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	307	Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	CACAGCGGTGCGGATCATCCT	0.617												
SLC29A2	3177	broad.mit.edu	37	11	66131805	66131805	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:66131805A>G	uc001oht.2	-	11	1379	c.1150T>C	c.(1150-1152)TCC>CCC	p.S384P	SLC29A2_uc001ohs.2_Missense_Mutation_p.S264P|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.S264P|SLC29A2_uc001ohu.2_Missense_Mutation_p.S384P|SLC29A2_uc001ohv.2_Missense_Mutation_p.V339A	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	384					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						GGCAGCCGGGACCTCTGGGGC	0.607											OREG0021103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NPAS4	266743	broad.mit.edu	37	11	66191809	66191809	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:66191809G>T	uc001ohx.1	+	7	1624	c.1448G>T	c.(1447-1449)AGC>ATC	p.S483I	NPAS4_uc010rpc.1_Missense_Mutation_p.S273I	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	483					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CCACTAACTAGCCCACTGCAA	0.552												
KDM2A	22992	broad.mit.edu	37	11	67018168	67018168	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:67018168C>T	uc001ojw.2	+	17	3531	c.2667C>T	c.(2665-2667)GAC>GAT	p.D889D	KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Silent_p.D583D|KDM2A_uc010rpn.1_Silent_p.D450D|KDM2A_uc001ojz.1_Silent_p.D347D|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	889	F-box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						AGGATGGAGACGAAAGCTGGA	0.473												
SSH3	54961	broad.mit.edu	37	11	67075058	67075058	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:67075058C>T	uc001okj.2	+	7	819	c.641C>T	c.(640-642)GCT>GTT	p.A214V	SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Missense_Mutation_p.A68V	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	slingshot homolog 3	214					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGTGAGGCAGCTCTAGGCAGC	0.622												
CORO1B	57175	broad.mit.edu	37	11	67208817	67208817	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:67208817C>T	uc001olj.1	-	4	659	c.623G>A	c.(622-624)GGC>GAC	p.G208D	CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.G208D|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.G208D|CORO1B_uc010rps.1_Missense_Mutation_p.G208D|CORO1B_uc009yrv.1_3'UTR	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	208	WD 3.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CACCAGGGTGCCCCGACGGGG	0.617												
MYEOV	26579	broad.mit.edu	37	11	69063839	69063839	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:69063839A>C	uc001oov.2	+	3	1372	c.922A>C	c.(922-924)ATC>CTC	p.I308L	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.I308L|MYEOV_uc001oow.2_Missense_Mutation_p.I250L	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	308											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		cctcctcctcatcatcatcct	0.194												
KRTAP5-7	440050	broad.mit.edu	37	11	71238828	71238828	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:71238828G>C	uc001oqq.1	+	1	516	c.482G>C	c.(481-483)TGC>TCC	p.C161S		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	161						keratin filament					0						CCCGTGTGCTGCCAGTGTAAG	0.363												
CLPB	81570	broad.mit.edu	37	11	72004429	72004429	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:72004429C>A	uc001osj.2	-	17	2156	c.2106G>T	c.(2104-2106)AAG>AAT	p.K702N	CLPB_uc010rqx.1_Missense_Mutation_p.K657N|CLPB_uc010rqy.1_Missense_Mutation_p.K643N|CLPB_uc001osk.2_Missense_Mutation_p.K672N|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.K501N|CLPB_uc001osi.2_Missense_Mutation_p.K310N	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	702					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						TGTTGCACACCTTCTCAGGGT	0.592												
ARHGEF17	9828	broad.mit.edu	37	11	73021308	73021308	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:73021308G>A	uc001otu.2	+	1	1646	c.1625G>A	c.(1624-1626)CGG>CAG	p.R542Q		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	542					actin cytoskeleton organization|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				0						GCCACTCTGCGGAGAGCAAAG	0.642												
DGAT2	84649	broad.mit.edu	37	11	75511517	75511517	+	Silent	SNP	C	C	T	rs148751558	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:75511517C>T	uc001oxa.2	+	8	1390	c.1131C>T	c.(1129-1131)TTC>TTT	p.F377F	DGAT2_uc001oxb.2_Silent_p.F334F	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	377	Cytoplasmic (Potential).				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	Ovarian(111;0.103)					AGACCAAGTTCGGCCTCCCGG	0.552												
UVRAG	7405	broad.mit.edu	37	11	75852185	75852185	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:75852185A>G	uc001oxc.2	+	15	2069	c.1828A>G	c.(1828-1830)AGT>GGT	p.S610G	UVRAG_uc010rrw.1_Missense_Mutation_p.S509G|UVRAG_uc001oxd.2_Missense_Mutation_p.S238G|UVRAG_uc010rrx.1_Missense_Mutation_p.S238G|UVRAG_uc010rry.1_Missense_Mutation_p.S166G	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	610					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						CGGGTCCGCCAGTGTCCAGCT	0.602												
B3GNT6	192134	broad.mit.edu	37	11	76751336	76751336	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:76751336C>T	uc001oxw.2	+	2	829	c.741C>T	c.(739-741)TCC>TCT	p.S247S		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	247	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						ACCTGTTCTCCGGCCAGCTCA	0.677												
FAT3	120114	broad.mit.edu	37	11	92087572	92087572	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:92087572T>C	uc001pdj.3	+	1	2311	c.2294T>C	c.(2293-2295)ATA>ACA	p.I765T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	765	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATTTACAATATCAGATGGA	0.423										TCGA Ovarian(4;0.039)		
SLC36A4	120103	broad.mit.edu	37	11	92930964	92930964	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:92930964G>A	uc001pdn.2	-	1	132	c.35C>T	c.(34-36)GCG>GTG	p.A12V		NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	12					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCGCCTCGCCGCCCCGGCAGC	0.766												
MAML2	84441	broad.mit.edu	37	11	95724831	95724831	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:95724831G>A	uc001pfw.1	-	3	3481	c.2196C>T	c.(2194-2196)TGC>TGT	p.C732C		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	732					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTGGATTTGAGCAGGGGTTAG	0.463			T	MECT1|CRTC3	salivary gland mucoepidermoid							
PGR	5241	broad.mit.edu	37	11	100998971	100998971	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:100998971C>T	uc001pgh.2	-	1	1574	c.831G>A	c.(829-831)GCG>GCA	p.A277A	PGR_uc001pgi.2_Silent_p.A277A|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	277	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CGACCCTGGGCGCTGAGAAGC	0.731												
MMP8	4317	broad.mit.edu	37	11	102593290	102593290	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:102593290T>G	uc001phe.2	-	2	316	c.217A>C	c.(217-219)AAT>CAT	p.N73H	MMP8_uc010rut.1_Missense_Mutation_p.N8H|MMP8_uc010ruu.1_Missense_Mutation_p.N50H	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	73					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		CCCGTCACATTCAACCCAAAA	0.443												
DDI1	414301	broad.mit.edu	37	11	103908681	103908681	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:103908681T>C	uc001phr.2	+	1	1374	c.1131T>C	c.(1129-1131)GAT>GAC	p.D377D	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	377					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTGGGCAAGATGAGTCTTCGG	0.453												
NPAT	4863	broad.mit.edu	37	11	108043984	108043984	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:108043984T>C	uc001pjz.3	-	13	1829	c.1727A>G	c.(1726-1728)CAC>CGC	p.H576R	NPAT_uc001pka.2_Missense_Mutation_p.H371R	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	576					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTTACTCTTGTGAACTTCACT	0.294												
ATM	472	broad.mit.edu	37	11	108143578	108143578	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:108143578A>G	uc001pkb.1	+	22	3668	c.3283A>G	c.(3283-3285)AGA>GGA	p.R1095G	ATM_uc009yxr.1_Missense_Mutation_p.R1095G	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1095					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTCAATCAATAGGTAATGGGT	0.343			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
SIK2	23235	broad.mit.edu	37	11	111593411	111593411	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:111593411C>T	uc001plt.2	+	14	2196	c.2078C>T	c.(2077-2079)GCC>GTC	p.A693V		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	693					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						CTGTCAAAGGCCCAGAACACC	0.517												
ZW10	9183	broad.mit.edu	37	11	113618308	113618308	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:113618308T>C	uc001poe.2	-	9	1254	c.1217A>G	c.(1216-1218)GAT>GGT	p.D406G	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	406					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CACAATCACATCCTGGCACTT	0.348												
MLL	4297	broad.mit.edu	37	11	118391558	118391558	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:118391558G>A	uc001pta.2	+	34	11485	c.11462G>A	c.(11461-11463)CGG>CAG	p.R3821Q	MLL_uc001ptb.2_Missense_Mutation_p.R3824Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3821					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ATGCGCTTCCGGCACTTAAAA	0.368			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
BCL9L	283149	broad.mit.edu	37	11	118769762	118769762	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:118769762G>A	uc001pug.2	-	8	4827	c.3862C>T	c.(3862-3864)CGC>TGC	p.R1288C	BCL9L_uc009zal.2_Missense_Mutation_p.R1283C	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1288	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			ovary(1)|pancreas(1)	2	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)		TCGCCCATGCGCCCAGCCATG	0.692												
HINFP	25988	broad.mit.edu	37	11	119004838	119004838	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:119004838G>A	uc001pvp.2	+	11	1373	c.1184G>A	c.(1183-1185)CGC>CAC	p.R395H	HINFP_uc001pvq.2_Missense_Mutation_p.R395H|HINFP_uc001pvr.2_Missense_Mutation_p.R148H	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	395	Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						CAGCTGGTTCGCTACGAGAGT	0.557											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
USP2	9099	broad.mit.edu	37	11	119228271	119228271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:119228271G>A	uc001pwm.3	-	11	1826	c.1531C>T	c.(1531-1533)CGA>TGA	p.R511*	USP2_uc001pwl.3_Nonsense_Mutation_p.R302*|USP2_uc001pwn.3_Nonsense_Mutation_p.R268*	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	511					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ttgctggttcggatcctggat	0.333												
SORL1	6653	broad.mit.edu	37	11	121475017	121475017	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:121475017T>C	uc001pxx.2	+	33	4715	c.4635T>C	c.(4633-4635)GAT>GAC	p.D1545D	SORL1_uc010rzp.1_Silent_p.D391D|SORL1_uc010rzq.1_Silent_p.D160D	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1545	Extracellular (Potential).|LDL-receptor class A 11.				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)		ACGAGAGCGATGAAAAGGCCT	0.542												
OR4D5	219875	broad.mit.edu	37	11	123810952	123810952	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:123810952G>A	uc001pzk.1	+	1	629	c.629G>A	c.(628-630)TGT>TAT	p.C210Y		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACCCTGATGTGTTTTCTGGTG	0.512												
OR10G7	390265	broad.mit.edu	37	11	123909354	123909354	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:123909354A>G	uc001pzq.1	-	1	355	c.355T>C	c.(355-357)TAT>CAT	p.Y119H		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	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)		TAGCGATCATAGGACATGACT	0.577												
CHEK1	1111	broad.mit.edu	37	11	125523731	125523731	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:125523731C>T	uc009zbo.2	+	12	2216	c.1324C>T	c.(1324-1326)CGG>TGG	p.R442W	CHEK1_uc010sbh.1_Missense_Mutation_p.R458W|CHEK1_uc010sbi.1_Intron|CHEK1_uc001qcf.3_Missense_Mutation_p.R442W|CHEK1_uc009zbp.2_Missense_Mutation_p.R442W|CHEK1_uc001qcg.3_Missense_Mutation_p.R442W|CHEK1_uc009zbq.2_Missense_Mutation_p.R398W|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_Missense_Mutation_p.R90W	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	checkpoint kinase 1	442	Autoinhibitory region.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GGTTGACTTCCGGCTTTCTAA	0.269								Other_conserved_DNA_damage_response_genes				
ARHGAP32	9743	broad.mit.edu	37	11	128840993	128840993	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:128840993G>A	uc009zcp.2	-	22	4073	c.4073C>T	c.(4072-4074)GCG>GTG	p.A1358V	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.A317V|ARHGAP32_uc001qez.2_Missense_Mutation_p.A1009V	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1358					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						GAAGGCAGACGCAGGGTCATC	0.537												
ADAMTS15	170689	broad.mit.edu	37	11	130332143	130332143	+	Missense_Mutation	SNP	G	G	A	rs144157651	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:130332143G>A	uc010scd.1	+	3	1252	c.1252G>A	c.(1252-1254)GGG>AGG	p.G418R		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	418	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCTGGACAGCGGGCACGGTAA	0.647												
SNX19	399979	broad.mit.edu	37	11	130785480	130785480	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:130785480G>A	uc001qgk.3	-	1	903	c.355C>T	c.(355-357)CGT>TGT	p.R119C	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.R119C|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	119	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CTCACGGAACGGTACCAAGAT	0.542												
NTM	50863	broad.mit.edu	37	11	132205024	132205024	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:132205024T>C	uc001qgp.2	+	7	1683	c.1019T>C	c.(1018-1020)CTG>CCG	p.L340P	NTM_uc001qgm.2_Missense_Mutation_p.L340P|NTM_uc010sch.1_Missense_Mutation_p.L342P|NTM_uc010sci.1_Missense_Mutation_p.L351P|NTM_uc010scj.1_Missense_Mutation_p.L299P|NTM_uc001qgq.2_Missense_Mutation_p.L351P|NTM_uc001qgr.2_Missense_Mutation_p.L122P	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	340					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						GTCTTGCACCTGCTTCTCAAA	0.602												
GLB1L3	112937	broad.mit.edu	37	11	134179567	134179567	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:134179567A>G	uc009zdf.2	+	11	1369	c.1009A>G	c.(1009-1011)AAT>GAT	p.N337D	GLB1L3_uc010scu.1_Missense_Mutation_p.N38D|GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	337					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GATCTCCTTCAATGTATATAT	0.438												
SLC6A12	6539	broad.mit.edu	37	12	310931	310931	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:310931C>A	uc001qhz.2	-	7	1118	c.575G>T	c.(574-576)TGG>TTG	p.W192L	SLC6A12_uc001qhx.2_5'Flank|SLC6A12_uc001qhy.2_5'Flank|SLC6A12_uc001qia.2_Missense_Mutation_p.W192L|SLC6A12_uc001qib.2_Missense_Mutation_p.W192L|SLC6A12_uc009zdh.1_Missense_Mutation_p.W192L|SLC6A12_uc009zdi.1_RNA	NM_003044	NP_003035	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter	192	Extracellular (Potential).				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CACCTACTCCCAGAATTCCAT	0.488												
CACNA2D4	93589	broad.mit.edu	37	12	1904923	1904923	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:1904923G>A	uc001qjp.2	-	36	3368	c.3137C>T	c.(3136-3138)CCC>CTC	p.P1046L	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc001qjo.2_Missense_Mutation_p.P189L|CACNA2D4_uc001qjs.1_Missense_Mutation_p.P113L|CACNA2D4_uc010sdw.1_Missense_Mutation_p.P176L|CACNA2D4_uc009zdr.1_RNA	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	1046	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTTACTGTTGGGAATCTGCTG	0.547												
ITFG2	55846	broad.mit.edu	37	12	2929298	2929298	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:2929298G>T	uc001qlb.1	+	5	517	c.453G>T	c.(451-453)GTG>GTT	p.V151V	ITFG2_uc010seb.1_5'UTR|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	151	FG-GAP 2; atypical.										0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CAGACCGTGTGGTGCGAGCTT	0.592												
FOXM1	2305	broad.mit.edu	37	12	2983629	2983629	+	Missense_Mutation	SNP	G	G	A	rs141301985	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:2983629G>A	uc001qlf.2	-	2	281	c.16C>T	c.(16-18)CGT>TGT	p.R6C	TULP3_uc010sef.1_5'Flank|FOXM1_uc001qle.2_Missense_Mutation_p.R6C|FOXM1_uc001qlg.2_Missense_Mutation_p.R6C|FOXM1_uc009zea.2_Missense_Mutation_p.R6C|FOXM1_uc009zeb.2_Missense_Mutation_p.R6C|C12orf32_uc001qlh.2_5'Flank|C12orf32_uc010see.1_5'Flank|C12orf32_uc001qli.2_5'Flank	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	6					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGTGGCCGACGGGGGCTAGTT	0.473												
C12orf5	57103	broad.mit.edu	37	12	4460518	4460518	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:4460518C>T	uc001qmp.2	+	5	435	c.356C>T	c.(355-357)CCG>CTG	p.P119L		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	119						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GTGTTTACACCGCCCGGAGGA	0.498												
AKAP3	10566	broad.mit.edu	37	12	4737317	4737317	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:4737317C>T	uc001qnb.3	-	4	980	c.751G>A	c.(751-753)GGA>AGA	p.G251R		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	251					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						GCATAATCTCCATTACGAGAT	0.458												
CD4	920	broad.mit.edu	37	12	6923959	6923959	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:6923959G>A	uc001qqv.1	+	5	653	c.408G>A	c.(406-408)GGG>GGA	p.G136G	CD4_uc009zez.1_Silent_p.G81G|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	136	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				TGCTTCAGGGGCAGAGCCTGA	0.577												
CLSTN3	9746	broad.mit.edu	37	12	7295853	7295853	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:7295853C>T	uc001qsr.2	+	12	2071	c.1793C>T	c.(1792-1794)ACT>ATT	p.T598I	CLSTN3_uc001qss.2_Missense_Mutation_p.T610I	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	598	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						TACATGAACACTCTGCGCTTT	0.587												
PRB4	5545	broad.mit.edu	37	12	11461619	11461619	+	Nonsense_Mutation	SNP	C	C	A	rs1063752		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:11461619C>A	uc001qzf.1	-	3	332	c.298G>T	c.(298-300)GAA>TAA	p.E100*	PRB4_uc001qzt.2_Nonsense_Mutation_p.E100*	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	121	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|5.		Missing (in allele M and allele S).			extracellular region				ovary(1)	1						GGTGGTCTTTCTGGCTTTCCT	0.617										HNSCC(22;0.051)		
SLCO1C1	53919	broad.mit.edu	37	12	20886040	20886040	+	Splice_Site	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:20886040T>C	uc001rej.3	+	11	1737	c.1382_splice	c.e11+2	p.G461_splice	SLCO1C1_uc010sii.1_Splice_Site_p.G461_splice|SLCO1C1_uc010sij.1_Splice_Site_p.G412_splice|SLCO1C1_uc009zip.2_Splice_Site_p.G295_splice|SLCO1C1_uc001rei.2_Splice_Site_p.G461_splice|SLCO1C1_uc010sik.1_Splice_Site_p.G343_splice	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,						sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					CTACCAAGGGTATGTTCCCTC	0.363												
BCAT1	586	broad.mit.edu	37	12	25054761	25054761	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:25054761A>G	uc001rgd.3	-	2	507	c.65T>C	c.(64-66)GTG>GCG	p.V22A	BCAT1_uc001rgc.2_Missense_Mutation_p.V21A|BCAT1_uc010six.1_Missense_Mutation_p.V34A|BCAT1_uc010siy.1_Missense_Mutation_p.V22A|BCAT1_uc001rge.3_Intron	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	22					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AAAAGTCCCCACCACCTCTTT	0.428												
PPFIBP1	8496	broad.mit.edu	37	12	27840346	27840346	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:27840346G>A	uc001ric.1	+	24	2671	c.2294G>A	c.(2293-2295)AGT>AAT	p.S765N	PPFIBP1_uc010sjr.1_Missense_Mutation_p.S596N|PPFIBP1_uc001rib.1_Missense_Mutation_p.S759N|PPFIBP1_uc001ria.2_Missense_Mutation_p.S734N|PPFIBP1_uc001rid.1_Missense_Mutation_p.S612N|PPFIBP1_uc001rif.1_Missense_Mutation_p.S272N	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	765	SAM 2.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					AAGGTTGTAAGTGTGCTACAC	0.478												
SFRS2IP	9169	broad.mit.edu	37	12	46320453	46320453	+	Missense_Mutation	SNP	T	T	C	rs150900606	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:46320453T>C	uc001rox.2	-	11	3318	c.3031A>G	c.(3031-3033)AAT>GAT	p.N1011D	SFRS2IP_uc001row.2_Missense_Mutation_p.N696D|SFRS2IP_uc001roy.1_Missense_Mutation_p.N1085D	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1011					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TCAGCAGAATTTGGATCATCA	0.368												
RAPGEF3	10411	broad.mit.edu	37	12	48134734	48134734	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:48134734C>T	uc009zkp.2	-	19	2327	c.1887G>A	c.(1885-1887)ACG>ACA	p.T629T	uc001rpv.2_RNA|RAPGEF3_uc001rpw.2_5'UTR|RAPGEF3_uc001rpx.2_Silent_p.T86T|RAPGEF3_uc010sln.1_Silent_p.T144T|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Silent_p.T629T|RAPGEF3_uc001rpz.3_Silent_p.T671T	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	629					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGTCGTGGTCCGTCAGCTGGC	0.687												
TMEM106C	79022	broad.mit.edu	37	12	48359632	48359632	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:48359632T>C	uc001rqp.2	+	4	378	c.263T>C	c.(262-264)GTC>GCC	p.V88A	TMEM106C_uc001rqo.2_Missense_Mutation_p.V88A|TMEM106C_uc001rqr.2_Missense_Mutation_p.V88A|TMEM106C_uc001rqq.2_Missense_Mutation_p.V88A	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a	88	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		AAGCAATATGTCCTCCTGTCC	0.463												
ZNF641	121274	broad.mit.edu	37	12	48736761	48736761	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:48736761A>G	uc001rrn.1	-	6	1477	c.1312T>C	c.(1312-1314)TTC>CTC	p.F438L	ZNF641_uc001rro.1_Missense_Mutation_p.F424L|ZNF641_uc010sls.1_Missense_Mutation_p.F415L	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						AGATTTCAAAAGACAGATGTT	0.552												
MLL2	8085	broad.mit.edu	37	12	49434333	49434333	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:49434333G>T	uc001rta.3	-	31	7220	c.7220C>A	c.(7219-7221)CCT>CAT	p.P2407H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2407	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						TCGGGAGAAAGGGTCGGAGGG	0.632			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49441849	49441849	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:49441849T>C	uc001rta.3	-	14	4135	c.4135A>G	c.(4135-4137)ATG>GTG	p.M1379V		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1379	PHD-type 3.				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						ACCACACACATGTCCTGGGGA	0.532			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
LASS5	91012	broad.mit.edu	37	12	50524461	50524461	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:50524461C>T	uc001rwd.3	-	10	1063	c.1046G>A	c.(1045-1047)CGC>CAC	p.R349H	LASS5_uc001rwc.2_Missense_Mutation_p.A317T|LASS5_uc001rwe.3_Missense_Mutation_p.R290H|LASS5_uc001rwf.3_RNA	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	LAG1 homolog, ceramide synthase 5	349	Lumenal (Potential).				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0						CACATCACTGCGATCATCCTT	0.512												
LARP4	113251	broad.mit.edu	37	12	50867242	50867242	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:50867242G>A	uc001rwp.1	+	14	1734	c.1590G>A	c.(1588-1590)GAG>GAA	p.E530E	LARP4_uc001rwo.1_Silent_p.E536E|LARP4_uc001rwq.1_Silent_p.E459E|LARP4_uc001rwr.1_Silent_p.E459E|LARP4_uc001rws.1_Silent_p.E529E|LARP4_uc009zlr.1_Silent_p.E349E|LARP4_uc001rwt.1_Silent_p.E121E	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	530							nucleotide binding|RNA binding			ovary(1)	1						CTGCAGATGAGCAGACAGAAT	0.338												
NR4A1	3164	broad.mit.edu	37	12	52448164	52448164	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:52448164C>T	uc001rzs.2	+	3	366	c.52C>T	c.(52-54)CGT>TGT	p.R18C	NR4A1_uc010sno.1_Missense_Mutation_p.R31C|NR4A1_uc001rzr.2_Missense_Mutation_p.R18C|NR4A1_uc009zmb.1_Missense_Mutation_p.R18C|NR4A1_uc001rzt.2_Missense_Mutation_p.R18C|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	18					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)		TCCGGGACCCCGTGACCACCT	0.662												
KRT82	3888	broad.mit.edu	37	12	52799986	52799986	+	Silent	SNP	G	G	T	rs72351593		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:52799986G>T	uc001sai.1	-	1	191	c.76C>A	c.(76-78)CGG>AGG	p.R26R		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	26	Head.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.193)		GTGACCATCCGGGGCATGACA	0.622												
KRT1	3848	broad.mit.edu	37	12	53071182	53071182	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:53071182C>T	uc001sau.1	-	5	1105	c.1046G>A	c.(1045-1047)AGC>AAC	p.S349N	KRT1_uc001sav.1_Missense_Mutation_p.S349N	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	349	Rod.|Linker 12.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						AGCAATGATGCTGTCCAGGTC	0.502												
KRT77	374454	broad.mit.edu	37	12	53086240	53086240	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:53086240G>A	uc001saw.2	-	7	1421	c.1392C>T	c.(1390-1392)GCC>GCT	p.A464A	KRT77_uc009zmi.2_Silent_p.A222A	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	464	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)	1						GGCGGTAGGTGGCGATCTCCA	0.642												
KRT3	3850	broad.mit.edu	37	12	53189360	53189360	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:53189360C>T	uc001say.2	-	1	533	c.467G>A	c.(466-468)GGC>GAC	p.G156D		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	156	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						ACCAGGACTGCCCAAGCTGCC	0.348												
ZNF740	283337	broad.mit.edu	37	12	53578783	53578783	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:53578783G>A	uc001scb.3	+	3	512	c.118G>A	c.(118-120)GAG>AAG	p.E40K		NM_001004304	NP_001004304	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|protein binding|zinc ion binding				0						CGAGAATGGCGAGCGGGCAGG	0.602												
NFE2	4778	broad.mit.edu	37	12	54686726	54686726	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:54686726A>G	uc009znk.2	-	2	1064	c.554T>C	c.(553-555)ATG>ACG	p.M185T	NFE2_uc001sfq.2_Missense_Mutation_p.M185T|NFE2_uc001sfr.3_Missense_Mutation_p.M185T|NFE2_uc009znl.2_Missense_Mutation_p.M185T	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	185	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						GGAGTTGGGCATGAGTGAGTA	0.587												
OR10P1	121130	broad.mit.edu	37	12	56031396	56031396	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:56031396A>G	uc010spq.1	+	1	721	c.721A>G	c.(721-723)ACC>GCC	p.T241A		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						GGTCTTCTCCACCTGCTCCTC	0.577												
METTL7B	196410	broad.mit.edu	37	12	56075886	56075886	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:56075886C>T	uc010spr.1	+	1	557	c.348C>T	c.(346-348)CAC>CAT	p.H116H		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	methyltransferase like 7B precursor	116							methyltransferase activity				0						AGAACAGGCACCTCCAATATG	0.557												
SLC39A5	283375	broad.mit.edu	37	12	56630230	56630230	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:56630230G>A	uc010sqj.1	+	9	1253	c.996G>A	c.(994-996)CCG>CCA	p.P332P	SLC39A5_uc010sqk.1_Silent_p.P332P	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	332	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						ACTTGGATCCGGAGAATGGCA	0.542												
MARS	4141	broad.mit.edu	37	12	57906610	57906610	+	Silent	SNP	G	G	A	rs149742633		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:57906610G>A	uc001sog.2	+	15	1853	c.1830G>A	c.(1828-1830)ACG>ACA	p.T610T	MARS_uc001sof.1_RNA|MARS_uc010srq.1_Silent_p.T376T|MARS_uc001soh.1_Silent_p.T5T	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	610					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CCCAGGACACGGGGATCCCTG	0.542												
WIF1	11197	broad.mit.edu	37	12	65456301	65456301	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:65456301A>G	uc001ssk.2	-	7	931	c.786T>C	c.(784-786)TGT>TGC	p.C262C		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1 precursor	262	EGF-like 3.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			ovary(2)|lung(1)|skin(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GAGGGCAAATACATTTTCCAG	0.373			T	HMGA2	pleomorphic salivary gland adenoma							
IRAK3	11213	broad.mit.edu	37	12	66641621	66641621	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:66641621C>A	uc001sth.2	+	12	1563	c.1461C>A	c.(1459-1461)AAC>AAA	p.N487K	IRAK3_uc010ssy.1_Missense_Mutation_p.N426K	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	487					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		GCCAGAATAACAATTTACTAC	0.428												
HELB	92797	broad.mit.edu	37	12	66709022	66709022	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:66709022G>A	uc001sti.2	+	6	1887	c.1859G>A	c.(1858-1860)GGT>GAT	p.G620D	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	620					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTTCTTTTAGGTGACATTAGA	0.313												
RAP1B	5908	broad.mit.edu	37	12	69044187	69044187	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:69044187A>G	uc001sub.2	+	3	228	c.65A>G	c.(64-66)CAA>CGA	p.Q22R	RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.Q22R|RAP1B_uc010stf.1_Missense_Mutation_p.Q22R|RAP1B_uc010stg.1_Intron|RAP1B_uc010sth.1_Intron|RAP1B_uc010sti.1_Missense_Mutation_p.Q22R	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	22					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CAGACTGTACAATTTGTTCAA	0.279												
PTPRB	5787	broad.mit.edu	37	12	70928615	70928615	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:70928615C>T	uc001swb.3	-	28	5578	c.5548G>A	c.(5548-5550)GGT>AGT	p.G1850S	uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.G1760S|PTPRB_uc010stp.1_Missense_Mutation_p.G1760S|PTPRB_uc001swc.3_Missense_Mutation_p.G2068S|PTPRB_uc001swa.3_Missense_Mutation_p.G1980S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1850	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAACATACACCGCATATCTTA	0.522												
PTPRR	5801	broad.mit.edu	37	12	71078009	71078009	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:71078009C>A	uc001swi.1	-	10	1811	c.1395G>T	c.(1393-1395)ACG>ACT	p.T465T	PTPRR_uc001swh.1_Silent_p.T220T|PTPRR_uc009zrs.2_Silent_p.T314T|PTPRR_uc010stq.1_Silent_p.T353T|PTPRR_uc010str.1_Silent_p.T314T	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	465	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGGGGCCCTGCGTGGCAATGA	0.433												
LGR5	8549	broad.mit.edu	37	12	71977666	71977666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:71977666C>T	uc001swl.2	+	18	1924	c.1876C>T	c.(1876-1878)CGA>TGA	p.R626*	LGR5_uc001swm.2_Nonsense_Mutation_p.R602*|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	626	Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						CAGCTTTGCACGACATGGTGC	0.502												
TRHDE	29953	broad.mit.edu	37	12	72863586	72863586	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:72863586G>A	uc001sxa.2	+	4	1259	c.1229G>A	c.(1228-1230)GGA>GAA	p.G410E		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	410	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GAGAACTGGGGACTAAGTATT	0.378												
NAV3	89795	broad.mit.edu	37	12	78511860	78511860	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:78511860T>C	uc001syp.2	+	14	2996	c.2823T>C	c.(2821-2823)CCT>CCC	p.P941P	NAV3_uc001syo.2_Silent_p.P941P|NAV3_uc010sub.1_Silent_p.P441P|NAV3_uc009zsf.2_5'UTR	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	941						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GGGATAGTCCTGAGGAACTGA	0.438										HNSCC(70;0.22)		
PPFIA2	8499	broad.mit.edu	37	12	81768483	81768483	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:81768483G>A	uc001szo.1	-	11	1357	c.1196C>T	c.(1195-1197)ACC>ATC	p.T399I	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	325										ovary(3)|lung(2)|pancreas(1)	6						CTTTCTCATGGTCTGCTGCAA	0.458												
C12orf12	196477	broad.mit.edu	37	12	91348379	91348379	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:91348379C>T	uc001tbj.2	-	1	575	c.141G>A	c.(139-141)GCG>GCA	p.A47A		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	47										central_nervous_system(1)|pancreas(1)	2						GTCTATTGTACGCTGGAGCAC	0.532												
PLXNC1	10154	broad.mit.edu	37	12	94648658	94648658	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:94648658C>T	uc001tdc.2	+	16	3226	c.2977C>T	c.(2977-2979)CGT>TGT	p.R993C	PLXNC1_uc010sut.1_Missense_Mutation_p.R40C	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	993	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GAAAGAGATACGTGACGGTAG	0.433												
NDUFA12	55967	broad.mit.edu	37	12	95396585	95396585	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:95396585C>T	uc001tdl.2	-	2	154	c.99G>A	c.(97-99)GCG>GCA	p.A33A		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	13kDa differentiation-associated protein	33					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	TACCAACCTTCGCATCATTTG	0.323												
NTN4	59277	broad.mit.edu	37	12	96181193	96181193	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:96181193G>A	uc001tei.2	-	2	558	c.109C>T	c.(109-111)CGG>TGG	p.R37W	NTN4_uc009ztf.2_Missense_Mutation_p.R37W|NTN4_uc009ztg.2_5'UTR	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	netrin 4 precursor	37	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TTTCCCATCCGAGGGTTGCAG	0.507												
ASCL1	429	broad.mit.edu	37	12	103352643	103352643	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:103352643G>A	uc001tjr.3	+	1	1192	c.621G>A	c.(619-621)TCG>TCA	p.S207S		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	207					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						TGGCCGGCTCGCCGGTCTCAT	0.647												
EID3	493861	broad.mit.edu	37	12	104697811	104697811	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:104697811C>T	uc001tkw.2	+	1	263	c.99C>T	c.(97-99)GAC>GAT	p.D33D	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						TCACCGCTGACGAGGAGAAGT	0.622												
TCP11L2	255394	broad.mit.edu	37	12	106729528	106729528	+	Missense_Mutation	SNP	T	T	C	rs139428803	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:106729528T>C	uc001tln.2	+	7	1058	c.884T>C	c.(883-885)CTG>CCG	p.L295P		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	295										ovary(3)	3						AAGCCAAGCCTGAGCCCTACT	0.388												
FICD	11153	broad.mit.edu	37	12	108912982	108912982	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:108912982C>T	uc001tmx.1	+	3	1253	c.1107C>T	c.(1105-1107)AAC>AAT	p.N369N		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	369	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						TTGATGGCAACGGGAGGACCT	0.562												
SART3	9733	broad.mit.edu	37	12	108919341	108919341	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:108919341A>G	uc001tmz.1	-	17	2651	c.2416T>C	c.(2416-2418)TCA>CCA	p.S806P	SART3_uc001tmy.1_Missense_Mutation_p.S332P|SART3_uc009zux.1_Missense_Mutation_p.S418P|SART3_uc010swx.1_Missense_Mutation_p.S770P	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	806	RRM 2.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						GGCAGGCCTGAGATGAACAGC	0.498									Porokeratosis			
SART3	9733	broad.mit.edu	37	12	108932768	108932768	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:108932768C>T	uc001tmz.1	-	7	1239	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H	SART3_uc001tmy.1_5'UTR|SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.R335H|SART3_uc010swy.1_Missense_Mutation_p.R221H|SART3_uc010swz.1_Missense_Mutation_p.R335H|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	335	HAT 5.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						GACCAGGGCGCGCTCAAAGAT	0.438									Porokeratosis			
USP30	84749	broad.mit.edu	37	12	109523603	109523603	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:109523603T>C	uc010sxi.1	+	13	1525	c.1421T>C	c.(1420-1422)CTG>CCG	p.L474P	USP30_uc001tnu.3_Missense_Mutation_p.L443P|USP30_uc001tnw.3_Missense_Mutation_p.L191P	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	474	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						AATCAGTGGCTGTGGGTCTCC	0.587												
PPTC7	160760	broad.mit.edu	37	12	110983821	110983821	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:110983821G>T	uc001trh.1	-	3	694	c.466C>A	c.(466-468)CTG>ATG	p.L156M		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	T-cell activation protein phosphatase 2C	156	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity				0						GAATCGCCCAGGTTTGCTGTG	0.502												
ALDH2	217	broad.mit.edu	37	12	112219773	112219773	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:112219773A>G	uc001tst.2	+	2	607	c.166A>G	c.(166-168)ACC>GCC	p.T56A	ALDH2_uc010syi.1_Missense_Mutation_p.T56A|ALDH2_uc009zvy.2_Missense_Mutation_p.T56A	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	56					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity			skin(2)|ovary(1)|central_nervous_system(1)	4					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AACATTCCCCACCGTCAATCC	0.483			T	HMGA2	leiomyoma							
C12orf51	283450	broad.mit.edu	37	12	112638474	112638474	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:112638474G>A	uc009zwc.2	-	48	7287	c.7269C>T	c.(7267-7269)GTC>GTT	p.V2423V		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TGTCCAGTGTGACCAGCCCAT	0.512												
OAS3	4940	broad.mit.edu	37	12	113403603	113403603	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:113403603G>A	uc001tug.2	+	12	2545	c.2458G>A	c.(2458-2460)GTG>ATG	p.V820M		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	820	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						TGCCGACCTCGTGGTGTTCCT	0.602												
DTX1	1840	broad.mit.edu	37	12	113533182	113533182	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:113533182G>A	uc001tuk.1	+	8	1937	c.1601G>A	c.(1600-1602)CGC>CAC	p.R534H		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	534					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GGATTCCCTCGCCACTGCTAT	0.612												
DDX54	79039	broad.mit.edu	37	12	113617008	113617008	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:113617008G>A	uc001tup.2	-	4	532	c.504C>T	c.(502-504)CGC>CGT	p.R168R	DDX54_uc001tuq.3_Silent_p.R168R	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	168	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GGATGAGGGCGCGGGCCCCGG	0.652												
NOS1	4842	broad.mit.edu	37	12	117768386	117768386	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:117768386G>A	uc001twm.1	-	2	1175	c.489C>T	c.(487-489)TAC>TAT	p.Y163Y		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	163	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCATCATCGTAGGCATGCT	0.682												
KSR2	283455	broad.mit.edu	37	12	117962957	117962957	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:117962957A>G	uc001two.2	-	14	1887	c.1832T>C	c.(1831-1833)CTC>CCC	p.L611P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	640					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGGGCCGAGAGGAGGGACAG	0.577												
P2RX4	5025	broad.mit.edu	37	12	121655008	121655008	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:121655008A>G	uc001tzr.2	+	2	510	c.206A>G	c.(205-207)AAG>AGG	p.K69R	P2RX4_uc010szr.1_RNA|P2RX4_uc010szs.1_RNA|P2RX4_uc009zxc.2_Missense_Mutation_p.K69R|P2RX4_uc001tzs.2_Missense_Mutation_p.K85R|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Intron	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	69	Extracellular (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCAAGGTCAAGGGCGTGGCT	0.498												
KNTC1	9735	broad.mit.edu	37	12	123087723	123087723	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:123087723A>G	uc001ucv.2	+	48	5197	c.5034A>G	c.(5032-5034)TTA>TTG	p.L1678L	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1678					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AATCCTGCTTACTCTCTATAG	0.408												
HIP1R	9026	broad.mit.edu	37	12	123333368	123333368	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:123333368G>A	uc001udj.1	+	4	385	c.326G>A	c.(325-327)CGC>CAC	p.R109H	HIP1R_uc001udg.1_Missense_Mutation_p.R97H|HIP1R_uc001udi.1_Missense_Mutation_p.R109H|HIP1R_uc001udh.2_Missense_Mutation_p.R109H	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	109	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGCGGTACCGCAGCAACATC	0.642												
PITPNM2	57605	broad.mit.edu	37	12	123472815	123472815	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:123472815T>A	uc001uej.1	-	19	3102	c.2963A>T	c.(2962-2964)AAG>ATG	p.K988M	PITPNM2_uc001uek.1_Missense_Mutation_p.K982M	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	988					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCGCTGCCACTTCTCCCTTGG	0.552												
DNAH10	196385	broad.mit.edu	37	12	124325995	124325995	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:124325995G>A	uc001uft.3	+	29	4934	c.4909G>A	c.(4909-4911)GTG>ATG	p.V1637M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1637	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAAGGGCGCGTGGAGGACTG	0.453												
DNAH10	196385	broad.mit.edu	37	12	124419227	124419227	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:124419227C>A	uc001uft.3	+	77	13208	c.13183C>A	c.(13183-13185)CTT>ATT	p.L4395I	DNAH10_uc001ufu.3_Missense_Mutation_p.L308I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4395					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAAGGATGTCTTATCAAGAG	0.522												
NCOR2	9612	broad.mit.edu	37	12	124824632	124824632	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:124824632C>T	uc010tay.1	-	39	5793	c.5637G>A	c.(5635-5637)CAG>CAA	p.Q1879Q	NCOR2_uc010taz.1_Silent_p.Q1863Q|NCOR2_uc010tax.1_5'UTR	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	1880					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGGGTCTCTGCTGGAGGGCAT	0.527												
DHX37	57647	broad.mit.edu	37	12	125436953	125436953	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:125436953G>A	uc001ugy.2	-	21	2958	c.2859C>T	c.(2857-2859)AAC>AAT	p.N953N	DHX37_uc001ugz.1_Silent_p.N40N	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	953							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCTTGTAGGCGTTCCTCCACT	0.692												
TMEM132D	121256	broad.mit.edu	37	12	130184667	130184667	+	Missense_Mutation	SNP	G	G	A	rs146143180		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:130184667G>A	uc009zyl.1	-	2	984	c.656C>T	c.(655-657)CCG>CTG	p.P219L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	219	Extracellular (Potential).					integral to membrane		p.P219L(1)		ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTCCCCTCCGGCTGGTCCAC	0.682												
MMP17	4326	broad.mit.edu	37	12	132325159	132325159	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:132325159C>T	uc001ujc.1	+	4	563	c.464C>T	c.(463-465)ACG>ATG	p.T155M	MMP17_uc001ujd.1_Missense_Mutation_p.T71M	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	155					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GGGCACGACACGGTGCGTGCA	0.667												
EP400	57634	broad.mit.edu	37	12	132508377	132508377	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:132508377C>T	uc001ujn.2	+	23	4781	c.4746C>T	c.(4744-4746)CGC>CGT	p.R1582R	EP400_uc001ujl.2_Silent_p.R1581R|EP400_uc001ujm.2_Silent_p.R1501R	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1618					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CACAGAGCCGCGTGGCTCAGC	0.567												
ANKLE2	23141	broad.mit.edu	37	12	133312082	133312082	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:133312082T>G	uc001ukx.2	-	9	1677	c.1610A>C	c.(1609-1611)AAG>ACG	p.K537T	ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Missense_Mutation_p.K475T	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	537						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)		TTTCCAGAGCTTGCGAAAATC	0.517												
GJA3	2700	broad.mit.edu	37	13	20716880	20716880	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:20716880C>T	uc001umx.1	-	2	720	c.548G>A	c.(547-549)CGC>CAC	p.R183H		NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	connexin 46	183	Extracellular (Potential).				cell-cell signaling|visual perception	connexon complex|integral to membrane				pancreas(1)	1		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GCAGGGCCAGCGGTCGCAGCG	0.602												
GJB6	10804	broad.mit.edu	37	13	20797122	20797122	+	Silent	SNP	C	C	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:20797122C>G	uc001umz.3	-	3	1051	c.498G>C	c.(496-498)GTG>GTC	p.V166V	GJB6_uc001unc.3_Silent_p.V166V|GJB6_uc001una.3_Silent_p.V166V|GJB6_uc001und.3_Silent_p.V166V|GJB6_uc001unb.3_Silent_p.V166V	NM_006783	NP_006774	O95452	CXB6_HUMAN	gap junction protein, beta 6	166	Extracellular (Potential).				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				ovary(1)	1		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CACATTTCAACACCCAGGGCA	0.453												
IFT88	8100	broad.mit.edu	37	13	21157114	21157114	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:21157114G>T	uc001unh.2	+	5	532	c.136G>T	c.(136-138)GCT>TCT	p.A46S	IFT88_uc001uni.2_Missense_Mutation_p.A37S|IFT88_uc001unj.2_Missense_Mutation_p.A36S|IFT88_uc010tcq.1_Missense_Mutation_p.A36S	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	46					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		GAATGATGCAGCTTTTCAGCA	0.294												
FRY	10129	broad.mit.edu	37	13	32691585	32691585	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:32691585C>A	uc001utx.2	+	4	935	c.439C>A	c.(439-441)CCA>ACA	p.P147T	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	147					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)		TGAATACAGACCAAGAACAAG	0.338												
KL	9365	broad.mit.edu	37	13	33635847	33635847	+	Silent	SNP	C	C	T	rs138004650	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:33635847C>T	uc001uus.2	+	4	2639	c.2631C>T	c.(2629-2631)GAC>GAT	p.D877D	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	877	Glycosyl hydrolase-1 2.|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)		GAATCGATGACGGGCTGCATG	0.517												
MAB21L1	4081	broad.mit.edu	37	13	36049602	36049602	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:36049602G>A	uc001uvc.2	-	1	1231	c.674C>T	c.(673-675)GCG>GTG	p.A225V	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	225					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GTCGCTCTCCGCCGAGCTCTG	0.617												
DCLK1	9201	broad.mit.edu	37	13	36385083	36385083	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:36385083C>T	uc001uvf.2	-	12	1810	c.1577G>A	c.(1576-1578)AGC>AAC	p.S526N	DCLK1_uc001uve.3_Missense_Mutation_p.S219N|DCLK1_uc010teh.1_Missense_Mutation_p.S219N|DCLK1_uc010abk.2_Missense_Mutation_p.S46N	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	526	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CAGTGATTTGCTGCCATCTTG	0.463												
SPG20	23111	broad.mit.edu	37	13	36878539	36878539	+	Missense_Mutation	SNP	G	G	A	rs140800614		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:36878539G>A	uc001uvn.2	-	10	2234	c.1964C>T	c.(1963-1965)ACG>ATG	p.T655M	SPG20_uc010ten.1_Missense_Mutation_p.T645M|SPG20_uc001uvm.2_Missense_Mutation_p.T655M|SPG20_uc001uvo.2_Missense_Mutation_p.T655M|SPG20_uc001uvq.2_Missense_Mutation_p.T655M	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	655					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TACTTCCTTCGTCTGCTCATC	0.403												
SMAD9	4093	broad.mit.edu	37	13	37453416	37453416	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:37453416T>C	uc001uvw.2	-	2	754	c.411A>G	c.(409-411)CCA>CCG	p.P137P	SMAD9_uc001uvx.2_Silent_p.P137P|SMAD9_uc010tep.1_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	137	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		ACGACCCACCTGGAGTCTCCA	0.547												
STOML3	161003	broad.mit.edu	37	13	39541029	39541029	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:39541029A>G	uc001uwx.2	-	7	947	c.809T>C	c.(808-810)ATG>ACG	p.M270T	STOML3_uc010tez.1_Missense_Mutation_p.M261T	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	270	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TAGTATATTCATGGGCAGAGG	0.507												
TSC22D1	8848	broad.mit.edu	37	13	45149330	45149330	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:45149330C>T	uc001uzn.3	-	1	1372	c.881G>A	c.(880-882)CGT>CAT	p.R294H	TSC22D1_uc001uzo.1_Missense_Mutation_p.R294H	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	294					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ACTTGGAGCACGCATATTAGT	0.398												
CPB2	1361	broad.mit.edu	37	13	46638789	46638789	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:46638789A>G	uc001vaw.2	-	8	857	c.790T>C	c.(790-792)TGG>CGG	p.W264R	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.W227R	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	264					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		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)		CTACCACACCAGTGTTTGGAA	0.403												
KCNRG	283518	broad.mit.edu	37	13	50589904	50589904	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:50589904G>A	uc001vdu.2	+	1	515	c.275G>A	c.(274-276)CGT>CAT	p.R92H	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.R92H|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	potassium channel regulator isoform 1	92	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TATGAACTTCGTTCTCTAGTT	0.413												
ATP7B	540	broad.mit.edu	37	13	52509016	52509016	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:52509016A>G	uc001vfw.2	-	21	4431	c.4274T>C	c.(4273-4275)GTC>GCC	p.V1425A	ATP7B_uc010adv.2_Missense_Mutation_p.V995A|ATP7B_uc001vfx.2_Missense_Mutation_p.V1218A|ATP7B_uc001vfy.2_Missense_Mutation_p.V1314A|ATP7B_uc010tgt.1_Missense_Mutation_p.V1360A|ATP7B_uc010tgu.1_Missense_Mutation_p.V1377A|ATP7B_uc010tgv.1_Missense_Mutation_p.V1347A|ATP7B_uc001vfv.2_Missense_Mutation_p.V697A|ATP7B_uc010tgs.1_Missense_Mutation_p.V636A	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1425	Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CACCTGGCTGACATAGCTGAC	0.617									Wilson_disease			
CKAP2	26586	broad.mit.edu	37	13	53049197	53049197	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:53049197T>C	uc001vgv.2	+	9	2170	c.1973T>C	c.(1972-1974)TTG>TCG	p.L658S	CKAP2_uc001vgu.2_Missense_Mutation_p.L657S|CKAP2_uc010tha.1_Missense_Mutation_p.L609S	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	658					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CTAACGGAGTTGGGAAGAGAA	0.423												
LMO7	4008	broad.mit.edu	37	13	76382045	76382045	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:76382045T>C	uc001vjv.2	+	7	1687	c.927T>C	c.(925-927)CCT>CCC	p.P309P	LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Silent_p.P215P	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	594						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACCCAGTCCCTTTTCCCGAAC	0.448												
MYCBP2	23077	broad.mit.edu	37	13	77763121	77763121	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:77763121T>C	uc001vkf.2	-	31	4193	c.4102A>G	c.(4102-4104)ATT>GTT	p.I1368V	MYCBP2_uc010aev.2_Missense_Mutation_p.I772V	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1368					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)		CTCTTTAAAATGTGTACAGGT	0.363												
MYCBP2	23077	broad.mit.edu	37	13	77779459	77779459	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:77779459C>T	uc001vkf.2	-	27	3752	c.3661G>A	c.(3661-3663)GAC>AAC	p.D1221N	MYCBP2_uc010aev.2_Missense_Mutation_p.D625N	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1221					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)		ATATCAGTGTCGGCACTGAAA	0.368												
GPC6	10082	broad.mit.edu	37	13	94482724	94482724	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:94482724C>T	uc001vlt.2	+	3	1269	c.637C>T	c.(637-639)CGC>TGC	p.R213C	GPC6_uc010tig.1_Missense_Mutation_p.R213C|GPC6_uc001vlu.1_Missense_Mutation_p.R143C	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	213						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCAGGTTACCCGCGCCTTCAT	0.498												
RNF113B	140432	broad.mit.edu	37	13	98829522	98829522	+	Splice_Site	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:98829522G>A	uc001vnk.2	-	1	1	c.-30_splice	c.e1-1		FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B								nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CGGCCGTGGCGtgcgtcaccc	0.468												
TMTC4	84899	broad.mit.edu	37	13	101289878	101289878	+	Missense_Mutation	SNP	C	C	T	rs3809371	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:101289878C>T	uc001vou.2	-	8	1016	c.856G>A	c.(856-858)GTG>ATG	p.V286M	TMTC4_uc001vot.2_Missense_Mutation_p.V305M|TMTC4_uc010tja.1_Missense_Mutation_p.V175M|TMTC4_uc001vov.1_Missense_Mutation_p.V31M|TMTC4_uc001vow.1_Missense_Mutation_p.V69M	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	286	Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCAGCGCACGTAGAGCATC	0.632												
TMTC4	84899	broad.mit.edu	37	13	101294559	101294559	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:101294559T>C	uc001vou.2	-	6	750	c.590A>G	c.(589-591)AAG>AGG	p.K197R	TMTC4_uc001vot.2_Missense_Mutation_p.K216R|TMTC4_uc010tja.1_Missense_Mutation_p.K86R|TMTC4_uc001vow.1_5'UTR	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	197						integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGCTCCCTCCTTGTTACCTGC	0.453												
IRS2	8660	broad.mit.edu	37	13	110434506	110434506	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:110434506C>T	uc001vqv.2	-	1	4409	c.3895G>A	c.(3895-3897)GTC>ATC	p.V1299I		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1299					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GTGCTGCCGACGCCCACAGCG	0.562												
COL4A1	1282	broad.mit.edu	37	13	110850974	110850974	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:110850974G>A	uc001vqw.3	-	21	1247	c.1125C>T	c.(1123-1125)CTC>CTT	p.L375L	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	375	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGTACAGGGAGGCCTGCAA	0.512												
ANKRD10	55608	broad.mit.edu	37	13	111545452	111545452	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:111545452T>C	uc001vrn.2	-	4	749	c.614A>G	c.(613-615)CAT>CGT	p.H205R	ANKRD10_uc001vrm.2_5'UTR|ANKRD10_uc001vro.1_3'UTR|ANKRD10_uc001vrp.1_3'UTR	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	205										central_nervous_system(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			CACACTAATATGATTAGGAAA	0.423												
ATP11A	23250	broad.mit.edu	37	13	113481079	113481079	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:113481079C>T	uc001vsi.3	+	12	1183	c.1095C>T	c.(1093-1095)TAC>TAT	p.Y365Y	ATP11A_uc001vsj.3_Silent_p.Y365Y|ATP11A_uc001vsm.1_Silent_p.Y241Y	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	365	Helical; (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)				TGTCCATGTACGTCACGGTCG	0.542												
FAM70B	348013	broad.mit.edu	37	13	114514861	114514861	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:114514861C>T	uc001vuh.2	+	9	993	c.966C>T	c.(964-966)CCC>CCT	p.P322P		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	322	Pro-rich.					integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			AGAAGCCACCCCCCTACGCAC	0.557												
OR11H12	440153	broad.mit.edu	37	14	19378054	19378054	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:19378054A>G	uc010tkp.1	+	1	461	c.461A>G	c.(460-462)CAT>CGT	p.H154R		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	154	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGACTGGGCATCTCTGTGCC	0.478												
OR4K13	390433	broad.mit.edu	37	14	20502155	20502155	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:20502155C>A	uc010tkz.1	-	1	763	c.763G>T	c.(763-765)GTC>TTC	p.V255F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TAGATAAAGACACACGGAGCA	0.408												
OR4L1	122742	broad.mit.edu	37	14	20528376	20528376	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:20528376C>T	uc001vwn.1	+	1	173	c.173C>T	c.(172-174)CCC>CTC	p.P58L		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTTCATTCTCCCTTGTACTTT	0.428												
TEP1	7011	broad.mit.edu	37	14	20854232	20854232	+	Splice_Site	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:20854232A>G	uc001vxe.2	-	20	3022	c.2982_splice	c.e20+1	p.W994_splice	TEP1_uc010ahk.2_Splice_Site_p.W344_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.W886_splice	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1						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)		TGTCTGCCTTACCCAGTGGAA	0.557												
RNASE9	390443	broad.mit.edu	37	14	21025061	21025061	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:21025061G>A	uc010aho.2	-	4	327	c.168C>T	c.(166-168)CCC>CCT	p.P56P	RNASE9_uc001vxq.3_Silent_p.P61P|RNASE9_uc010ahp.2_Silent_p.P61P|RNASE9_uc010ahq.2_Silent_p.P61P|RNASE9_uc010ahr.2_Silent_p.P61P|RNASE9_uc010ahs.2_Silent_p.P56P|RNASE9_uc010aht.2_Silent_p.P56P|RNASE9_uc010ahu.2_Silent_p.P56P	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	56						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(2)	2	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GTGGTCTGGCGGGCCCTGTAC	0.378												
SUPT16H	11198	broad.mit.edu	37	14	21831283	21831283	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:21831283C>T	uc001wao.2	-	13	1760	c.1421G>A	c.(1420-1422)CGA>CAA	p.R474Q		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	474	Potential.				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ATGTGCTCTTCGCTTCTCTTC	0.398												
MMP14	4323	broad.mit.edu	37	14	23313028	23313028	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:23313028C>T	uc001whc.2	+	6	1194	c.960C>T	c.(958-960)GAC>GAT	p.D320D		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	320	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		ACATCTGTGACGGGAACTTTG	0.532												
MYH6	4624	broad.mit.edu	37	14	23858108	23858108	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:23858108T>C	uc001wjv.2	-	29	4202	c.4135A>G	c.(4135-4137)ACG>GCG	p.T1379A	uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1379	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ATGGCGTCCGTCTCATACTTG	0.627												
MYH7	4625	broad.mit.edu	37	14	23885003	23885003	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:23885003G>A	uc001wjx.2	-	35	5098	c.4992C>T	c.(4990-4992)AAC>AAT	p.N1664N		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1664	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCAGGTCGTCGTTGGCACGGA	0.612												
DHRS2	10202	broad.mit.edu	37	14	24113765	24113765	+	Splice_Site	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:24113765T>G	uc001wkt.3	+	7	1133	c.686_splice	c.e7+2	p.G229_splice	DHRS2_uc001wku.3_Intron|DHRS2_uc010akv.2_Intron|DHRS2_uc001wkv.3_Intron	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1						C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)		GAGGATTGGGTGTGTCTTCCA	0.517												
IPO4	79711	broad.mit.edu	37	14	24656883	24656883	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:24656883G>A	uc001wmv.1	-	5	529	c.398C>T	c.(397-399)CCA>CTA	p.P133L	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.P133L	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	133					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		CTCTCTCTCTGGGCTGTGGGG	0.567												
NFATC4	4776	broad.mit.edu	37	14	24841792	24841792	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:24841792G>A	uc001wpc.2	+	3	1663	c.1342G>A	c.(1342-1344)GGT>AGT	p.G448S	NFATC4_uc010tok.1_Missense_Mutation_p.G511S|NFATC4_uc010tol.1_Missense_Mutation_p.G511S|NFATC4_uc010alr.2_Missense_Mutation_p.G511S|NFATC4_uc010als.2_Missense_Mutation_p.G461S|NFATC4_uc010tom.1_Missense_Mutation_p.G461S|NFATC4_uc010ton.1_Missense_Mutation_p.G461S|NFATC4_uc010too.1_Missense_Mutation_p.G461S|NFATC4_uc010alt.2_Missense_Mutation_p.G480S|NFATC4_uc010top.1_Missense_Mutation_p.G480S|NFATC4_uc010toq.1_Missense_Mutation_p.G480S|NFATC4_uc010alu.2_Missense_Mutation_p.G140S|NFATC4_uc010tor.1_Missense_Mutation_p.G448S|NFATC4_uc010tos.1_Missense_Mutation_p.G378S|NFATC4_uc010tot.1_Missense_Mutation_p.G436S|NFATC4_uc010tou.1_Missense_Mutation_p.G378S|NFATC4_uc010tov.1_Missense_Mutation_p.G436S|NFATC4_uc010tow.1_Missense_Mutation_p.G378S|NFATC4_uc010alv.2_Missense_Mutation_p.G436S|NFATC4_uc010tox.1_Missense_Mutation_p.G378S|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank|NFATC4_uc010tpa.1_5'Flank|NFATC4_uc010tpb.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	448	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		TGCCCCTGGCGGTCACCCCGT	0.587												
KIAA0391	9692	broad.mit.edu	37	14	35739687	35739687	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:35739687G>A	uc001wsy.1	+	7	1865	c.1505G>A	c.(1504-1506)CGG>CAG	p.R502Q	KIAA0391_uc010tps.1_Missense_Mutation_p.R407Q|KIAA0391_uc001wsz.1_Missense_Mutation_p.R486Q|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.R486Q|KIAA0391_uc001wtc.1_Missense_Mutation_p.R130Q	NM_014672	NP_055487	O15091	MRRP3_HUMAN	mitochondrial RNase P protein 3 precursor	502					tRNA processing	mitochondrion					0	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GACCTGATGCGGGACCACAAG	0.507												
INSM2	84684	broad.mit.edu	37	14	36004595	36004595	+	Silent	SNP	G	G	A	rs149249302		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:36004595G>A	uc001wth.1	+	1	1348	c.1137G>A	c.(1135-1137)CCG>CCA	p.P379P		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		ATCAGCACCCGGACAGCGCCC	0.682											OREG0005660	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=INSM2|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
NKX2-1	7080	broad.mit.edu	37	14	36987001	36987001	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:36987001G>T	uc001wtt.2	-	2	939	c.598C>A	c.(598-600)CTG>ATG	p.L200M	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.L230M|NKX2-1_uc001wtv.2_Missense_Mutation_p.L200M|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	200	Homeobox.				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GTGGGCGTCAGGTGGATCATG	0.517			A		NSCLC							
CTAGE5	4253	broad.mit.edu	37	14	39790151	39790151	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:39790151C>A	uc001wvg.3	+	19	1899	c.1563C>A	c.(1561-1563)CCC>CCA	p.P521P	CTAGE5_uc010tqe.1_Silent_p.P483P|CTAGE5_uc001wuz.3_Silent_p.P509P|CTAGE5_uc001wuy.3_Silent_p.P441P|CTAGE5_uc001wvb.3_Intron|CTAGE5_uc001wvc.3_Intron|CTAGE5_uc001wva.3_Silent_p.P492P|CTAGE5_uc001wvh.3_Intron|CTAGE5_uc001wvf.3_Silent_p.P446P|CTAGE5_uc001wvi.3_Silent_p.P526P|CTAGE5_uc010amz.2_Silent_p.P137P|CTAGE5_uc001wvj.3_Silent_p.P492P	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	521	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CATATGGTCCCTCACCATTGG	0.428												
LRFN5	145581	broad.mit.edu	37	14	42356100	42356100	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:42356100C>T	uc001wvm.2	+	3	1470	c.272C>T	c.(271-273)ACA>ATA	p.T91I	LRFN5_uc010ana.2_Missense_Mutation_p.T91I	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	91	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTTTTATTACACCTCATGCT	0.353										HNSCC(30;0.082)		
FAM179B	23116	broad.mit.edu	37	14	45537805	45537805	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:45537805C>T	uc001wvv.2	+	17	4978	c.4769C>T	c.(4768-4770)GCG>GTG	p.A1590V	FAM179B_uc001wvw.2_Missense_Mutation_p.A1643V|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1590	HEAT 6.						binding			skin(2)|upper_aerodigestive_tract(1)	3						GGCATCTATGCGGCTGCTACA	0.373												
C14orf106	55320	broad.mit.edu	37	14	45711564	45711564	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:45711564G>A	uc001wwf.2	-	4	1275	c.816C>T	c.(814-816)AGC>AGT	p.S272S	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	272					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						CAGAATCAACGCTTTCTAAAA	0.343												
MDGA2	161357	broad.mit.edu	37	14	47530528	47530528	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:47530528C>T	uc001wwj.3	-	7	1438	c.1242G>A	c.(1240-1242)ACG>ACA	p.T414T	MDGA2_uc001wwi.3_Silent_p.T185T|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	414	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CACATGTGTACGTCCCAAAAT	0.408												
SOS2	6655	broad.mit.edu	37	14	50667726	50667726	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:50667726C>T	uc001wxs.3	-	3	388	c.290G>A	c.(289-291)CGA>CAA	p.R97Q	SOS2_uc010tql.1_Missense_Mutation_p.R97Q	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	97					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	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCTTCGTTTTCGTTTTTCTAT	0.403												
TXNDC16	57544	broad.mit.edu	37	14	53003450	53003450	+	Missense_Mutation	SNP	C	C	T	rs147390631	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:53003450C>T	uc001wzs.2	-	6	828	c.379G>A	c.(379-381)GCC>ACC	p.A127T	TXNDC16_uc010tqu.1_Missense_Mutation_p.A127T|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	127					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					AGAACATGGGCGACAATGGCA	0.289												
KIAA0831	22863	broad.mit.edu	37	14	55848903	55848903	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:55848903G>A	uc001xbx.1	-	6	690	c.654C>T	c.(652-654)CCC>CCT	p.P218P	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Silent_p.P105P	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	218					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						ACACATCTGCGGGGTCTCTAC	0.493												
TBPL2	387332	broad.mit.edu	37	14	55903468	55903468	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:55903468T>C	uc001xby.2	-	2	419	c.419A>G	c.(418-420)CAG>CGG	p.Q140R		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	140					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						CCCAACGTCCTGTTCGCTGGG	0.483												
JKAMP	51528	broad.mit.edu	37	14	59954414	59954414	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:59954414C>T	uc001xei.3	+	3	663	c.161C>T	c.(160-162)ACG>ATG	p.T54M	JKAMP_uc001xef.3_Missense_Mutation_p.T40M|JKAMP_uc001xeh.3_Missense_Mutation_p.T34M|JKAMP_uc001xeg.3_Missense_Mutation_p.T48M|JKAMP_uc010try.1_Translation_Start_Site|JKAMP_uc001xej.3_Translation_Start_Site	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	55	Lumenal (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						GGACAGAGAACGAATGCACAG	0.358												
TMEM30B	161291	broad.mit.edu	37	14	61747063	61747063	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:61747063C>T	uc001xfl.2	-	1	1468	c.803G>A	c.(802-804)CGC>CAC	p.R268H	PRKCH_uc010tsa.1_Intron|TMEM30B_uc010apr.1_RNA	NM_001017970	NP_001017970	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	268						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		CTGGCGGATGCGCGCGTACAG	0.672												
PLEKHG3	26030	broad.mit.edu	37	14	65197879	65197879	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:65197879C>T	uc001xho.1	+	7	1110	c.841C>T	c.(841-843)CGG>TGG	p.R281W	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R225W|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R281W|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	281					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCACGCGGTCCGGCTCCAGGT	0.637												
SPTB	6710	broad.mit.edu	37	14	65237609	65237609	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:65237609C>A	uc001xht.2	-	26	5846	c.5792G>T	c.(5791-5793)AGG>ATG	p.R1931M	SPTB_uc001xhr.2_Missense_Mutation_p.R1931M|SPTB_uc001xhs.2_Missense_Mutation_p.R1931M|SPTB_uc001xhu.2_Missense_Mutation_p.R1931M|SPTB_uc010aqi.2_Missense_Mutation_p.R592M	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1931	Spectrin 16.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCACCTGGGCCTCTCCTGGGT	0.632												
ZFYVE26	23503	broad.mit.edu	37	14	68244276	68244276	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:68244276C>A	uc001xka.2	-	25	5113	c.4974G>T	c.(4972-4974)AAG>AAT	p.K1658N	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.K1658N	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1658					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTATCCTTACCTTGGATCCCA	0.537												
ACTN1	87	broad.mit.edu	37	14	69341603	69341603	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:69341603C>T	uc001xkl.2	-	21	2962	c.2652G>A	c.(2650-2652)ACG>ACA	p.T884T	ACTN1_uc001xkk.2_Silent_p.T480T|ACTN1_uc010ttb.1_Silent_p.T814T|ACTN1_uc001xkm.2_Silent_p.T906T|ACTN1_uc001xkn.2_Silent_p.T879T	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	884					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGTACAGCGCCGTGGAGAAGG	0.687												
ACTN1	87	broad.mit.edu	37	14	69341673	69341673	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:69341673A>G	uc001xkl.2	-	21	2892	c.2582T>C	c.(2581-2583)ATC>ACC	p.I861T	ACTN1_uc001xkk.2_Missense_Mutation_p.I457T|ACTN1_uc010ttb.1_Missense_Mutation_p.I791T|ACTN1_uc001xkm.2_Missense_Mutation_p.I883T|ACTN1_uc001xkn.2_Missense_Mutation_p.I856T	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	861					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CATCCGCGCGATGCAGTACTC	0.632												
ACTN1	87	broad.mit.edu	37	14	69392358	69392358	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:69392358C>T	uc001xkl.2	-	2	447	c.137G>A	c.(136-138)CGG>CAG	p.R46Q	ACTN1_uc010ttb.1_5'UTR|ACTN1_uc001xkm.2_Missense_Mutation_p.R46Q|ACTN1_uc001xkn.2_Missense_Mutation_p.R46Q|ACTN1_uc001xko.1_5'UTR|ACTN1_uc010ttd.1_Missense_Mutation_p.R25Q	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	46	CH 1.|Actin-binding.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCCCGCCTTCCGGAGGTGGGA	0.577												
ADAM21	8747	broad.mit.edu	37	14	70924556	70924556	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:70924556T>C	uc001xmd.2	+	1	340	c.340T>C	c.(340-342)TAC>CAC	p.Y114H		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	114					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTATCATGGTTACGTGGAGGC	0.478												
PCNX	22990	broad.mit.edu	37	14	71445168	71445168	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:71445168A>G	uc001xmo.2	+	6	2560	c.2114A>G	c.(2113-2115)AAC>AGC	p.N705S	PCNX_uc001xmn.3_Missense_Mutation_p.N705S|PCNX_uc010are.1_Missense_Mutation_p.N705S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	705						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AATGACTCAAACAGGTTAATG	0.463												
PCNX	22990	broad.mit.edu	37	14	71570248	71570248	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:71570248A>G	uc001xmo.2	+	32	6403	c.5957A>G	c.(5956-5958)GAT>GGT	p.D1986G	PCNX_uc010are.1_Missense_Mutation_p.D1875G|PCNX_uc010arf.1_Missense_Mutation_p.D774G|PCNX_uc001xmp.2_Missense_Mutation_p.D70G	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1986						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCATCTTGTGATCAACCTATT	0.453												
PAPLN	89932	broad.mit.edu	37	14	73718750	73718750	+	Missense_Mutation	SNP	G	G	A	rs141937638		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:73718750G>A	uc010ttx.1	+	9	1031	c.868G>A	c.(868-870)GGT>AGT	p.G290S	PAPLN_uc001xnw.3_Missense_Mutation_p.G263S|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.G290S	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	290						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCCAACCCCGGTGTGCACTA	0.682												
ACOT2	10965	broad.mit.edu	37	14	74036200	74036200	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:74036200C>T	uc001xon.3	+	1	429	c.256C>T	c.(256-258)CGC>TGC	p.R86C	ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Intron	NM_006821	NP_006812	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	86					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		AATCGCCGTGCGCGGCCTAGC	0.706												
ALDH6A1	4329	broad.mit.edu	37	14	74538180	74538180	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:74538180T>C	uc001xpo.2	-	6	547	c.448A>G	c.(448-450)AGT>GGT	p.S150G	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_5'UTR|ALDH6A1_uc010tuq.1_Missense_Mutation_p.S137G	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	150						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GATGTCACACTACAGGCATGC	0.522												
PROX2	283571	broad.mit.edu	37	14	75329594	75329594	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:75329594G>T	uc001xqr.1	-	1	944	c.944C>A	c.(943-945)CCT>CAT	p.P315H	PROX2_uc001xqq.1_Intron	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	315					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TGGAGGGATAGGGTACCTAGG	0.532												
RPS6KL1	83694	broad.mit.edu	37	14	75388058	75388058	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:75388058G>A	uc010tux.1	-	2	715	c.187C>T	c.(187-189)CGC>TGC	p.R63C	RPS6KL1_uc001xqw.2_Missense_Mutation_p.R63C|RPS6KL1_uc010asd.1_RNA|RPS6KL1_uc001xqy.1_Missense_Mutation_p.R63C	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	63						ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CTAACATCGCGCTCCAGGGCC	0.612												
ANGEL1	23357	broad.mit.edu	37	14	77269819	77269819	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:77269819G>A	uc001xsv.2	-	7	1626	c.1513C>T	c.(1513-1515)CGC>TGC	p.R505C	ANGEL1_uc010tvf.1_Intron	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	505										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCATACTTGCGTCTCTCTGTA	0.478												
C14orf4	64207	broad.mit.edu	37	14	77492633	77492633	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:77492633G>A	uc001xsy.2	-	1	2402	c.1503C>T	c.(1501-1503)GAC>GAT	p.D501D		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	501						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		GACAGCTGGCGTCCAGGTAGG	0.483												
POMT2	29954	broad.mit.edu	37	14	77767578	77767578	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:77767578G>A	uc001xti.2	-	6	872	c.671C>T	c.(670-672)CCC>CTC	p.P224L	POMT2_uc001xth.1_5'Flank|POMT2_uc010asr.2_Missense_Mutation_p.P113L	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	224					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GAACCACCAGGGGGCAGAGAA	0.542											OREG0022837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C14orf174	161394	broad.mit.edu	37	14	77857510	77857510	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:77857510G>T	uc001xtq.1	+	3	1948	c.1948G>T	c.(1948-1950)GCA>TCA	p.A650S		NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	650											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		ATTTGTCAAAGCAGCAGGATT	0.403												
C14orf148	122945	broad.mit.edu	37	14	77889208	77889208	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:77889208A>G	uc001xtr.2	-	1	172	c.25T>C	c.(25-27)TCC>CCC	p.S9P	C14orf148_uc010tvi.1_Missense_Mutation_p.S9P	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	9					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AACTGCAGGGACTCAAGGTCC	0.517												
NRXN3	9369	broad.mit.edu	37	14	78709651	78709651	+	RNA	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:78709651T>G	uc001xum.1	+	2		c.1008T>G						Q9Y4C0	NRX3A_HUMAN	Homo sapiens mRNA for KIAA0743 protein, partial cds.						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GATGGCGGCGTCTGCGACTTC	0.602												
NRXN3	9369	broad.mit.edu	37	14	79175609	79175609	+	Missense_Mutation	SNP	G	G	A	rs148738050		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:79175609G>A	uc001xun.2	+	4	643	c.152G>A	c.(151-153)CGG>CAG	p.R51Q	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R185Q	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	424	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGCCTGGCCCGGATTGCGGAC	0.458												
NRXN3	9369	broad.mit.edu	37	14	79433724	79433724	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:79433724A>C	uc001xun.2	+	10	2323	c.1832A>C	c.(1831-1833)AAA>ACA	p.K611T	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.K736T	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	984	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AATGGTGCCAAAAATCTGGAT	0.393												
FLRT2	23768	broad.mit.edu	37	14	86088243	86088243	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:86088243C>T	uc001xvr.2	+	2	1152	c.385C>T	c.(385-387)CTT>TTT	p.L129F	FLRT2_uc010atd.2_Missense_Mutation_p.L129F	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	129	LRR 3.|Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACGGGCTGCTCTTGCCCAGCT	0.512												
FLRT2	23768	broad.mit.edu	37	14	86088495	86088495	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:86088495G>A	uc001xvr.2	+	2	1404	c.637G>A	c.(637-639)GGG>AGG	p.G213R	FLRT2_uc010atd.2_Missense_Mutation_p.G213R	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	213	Extracellular (Potential).|LRR 7.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TATTGTGGACGGGAACCTCCT	0.507												
TTC8	123016	broad.mit.edu	37	14	89337945	89337945	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:89337945C>T	uc010ath.2	+	12	1284	c.1150C>T	c.(1150-1152)CTG>TTG	p.L384L	TTC8_uc001xxl.2_Silent_p.L129L|TTC8_uc010ati.2_Silent_p.L170L|TTC8_uc001xxm.2_Silent_p.L328L|TTC8_uc010atj.2_Silent_p.L103L|TTC8_uc001xxi.2_Silent_p.L368L|TTC8_uc001xxj.2_Silent_p.L358L|TTC8_uc001xxk.2_Silent_p.L328L	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	394	TPR 6.				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0						CAATCTGGGGCTGTGTTGCTT	0.438									Bardet-Biedl_syndrome			
CCDC88C	440193	broad.mit.edu	37	14	91805636	91805636	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:91805636G>T	uc010aty.2	-	8	894	c.795C>A	c.(793-795)CGC>CGA	p.R265R	CCDC88C_uc010twk.1_Silent_p.R229R	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	265	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CCTGCCTGACGCGCCGCAGCC	0.627												
CATSPERB	79820	broad.mit.edu	37	14	92140520	92140520	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:92140520C>A	uc001xzs.1	-	12	1118	c.978G>T	c.(976-978)GAG>GAT	p.E326D		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	326					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AATATCATACCTCACTTAGGG	0.313												
SLC24A4	123041	broad.mit.edu	37	14	92922911	92922911	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:92922911A>T	uc001yak.2	+	12	1187	c.1163A>T	c.(1162-1164)GAG>GTG	p.E388V	SLC24A4_uc001yai.2_Missense_Mutation_p.E341V|SLC24A4_uc010twm.1_Missense_Mutation_p.E386V|SLC24A4_uc001yaj.2_Missense_Mutation_p.E369V|SLC24A4_uc010auj.2_Missense_Mutation_p.E277V|SLC24A4_uc010twn.1_Missense_Mutation_p.E161V|SLC24A4_uc001yan.2_Missense_Mutation_p.E99V	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	405	Extracellular (Potential).|Poly-Pro.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCAGAGCCAGAGCCGGTGGAG	0.602											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C14orf49	161176	broad.mit.edu	37	14	95899742	95899742	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:95899742A>G	uc001yei.3	-	15	2558	c.2543T>C	c.(2542-2544)CTG>CCG	p.L848P	C14orf49_uc010avi.2_Missense_Mutation_p.L843P	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	848	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCGAGCCTCCAGCTCCTGGGG	0.577												
BDKRB1	623	broad.mit.edu	37	14	96730667	96730667	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:96730667T>C	uc001yfh.2	+	3	856	c.648T>C	c.(646-648)GCT>GCC	p.A216A	BDKRB1_uc010avn.2_Silent_p.A216A	NM_000710	NP_000701	P46663	BKRB1_HUMAN	bradykinin receptor B1	216	Helical; Name=5; (Potential).				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			ovary(3)	3		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TACCACTGGCTGCGATCGTCT	0.572												
AK7	122481	broad.mit.edu	37	14	96949517	96949517	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:96949517C>T	uc001yfn.2	+	16	1979	c.1935C>T	c.(1933-1935)GCC>GCT	p.A645A		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	645	Potential.|Glu-rich.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ACCAGGAGGCCGTGGAGATGG	0.597												
YY1	7528	broad.mit.edu	37	14	100728701	100728701	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:100728701C>T	uc001ygy.1	+	2	1220	c.740C>T	c.(739-741)TCA>TTA	p.S247L		NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	247					cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding				0		Melanoma(154;0.152)				GGAGAGAACTCACCTCCTGAT	0.388												
DYNC1H1	1778	broad.mit.edu	37	14	102506738	102506738	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:102506738G>T	uc001yks.2	+	63	12020	c.11856G>T	c.(11854-11856)CAG>CAT	p.Q3952H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3952					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CAAAGGTTCAGGCAGACGAGG	0.522												
RAGE	5891	broad.mit.edu	37	14	102698915	102698915	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:102698915C>T	uc001ylm.2	-	9	1049	c.823G>A	c.(823-825)GCC>ACC	p.A275T	RAGE_uc010txv.1_Missense_Mutation_p.A245T|RAGE_uc001yln.2_Missense_Mutation_p.A93T|RAGE_uc001ylh.2_RNA|RAGE_uc001yli.2_RNA|RAGE_uc001yll.2_RNA|RAGE_uc001ylj.2_RNA|RAGE_uc001ylk.2_RNA	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	275	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TGGTGGGCGGCGATTCTCTCA	0.552												
TECPR2	9895	broad.mit.edu	37	14	102901155	102901155	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:102901155C>T	uc001ylw.1	+	9	2149	c.2001C>T	c.(1999-2001)ACC>ACT	p.T667T	TECPR2_uc010awl.2_Silent_p.T667T|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	667							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						TGCCTGGGACCAGAGCTGATG	0.602												
KIAA0284	283638	broad.mit.edu	37	14	105356064	105356064	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:105356064G>A	uc010axb.2	+	13	4071	c.3847G>A	c.(3847-3849)GTG>ATG	p.V1283M	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.V1213M|KIAA0284_uc001yps.2_Missense_Mutation_p.V1224M|KIAA0284_uc001ypt.2_Translation_Start_Site	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1318						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		TGGTTTCATCGTGCAGACGGC	0.527												
PACS2	23241	broad.mit.edu	37	14	105843116	105843116	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:105843116G>A	uc001yqt.2	+	9	988	c.813G>A	c.(811-813)TCG>TCA	p.S271S	PACS2_uc001yqs.2_Silent_p.S196S|PACS2_uc001yqv.2_Silent_p.S271S|PACS2_uc001yqu.2_Silent_p.S271S	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	271					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TCCTGGACTCGGAGCAGGACC	0.682												
NDN	4692	broad.mit.edu	37	15	23931878	23931878	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:23931878T>C	uc001ywk.2	-	1	573	c.487A>G	c.(487-489)ATG>GTG	p.M163V		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	163	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCAAACTCCATGGTGTGCAGG	0.642									Prader-Willi_syndrome			
ATP10A	57194	broad.mit.edu	37	15	25940151	25940151	+	Missense_Mutation	SNP	C	C	T	rs150976669		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:25940151C>T	uc010ayu.2	-	14	3009	c.2903G>A	c.(2902-2904)CGC>CAC	p.R968H		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	968	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGGGTCTGCGGCCAGAGGC	0.602												
HERC2	8924	broad.mit.edu	37	15	28361831	28361831	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:28361831C>T	uc001zbj.2	-	88	13695	c.13589G>A	c.(13588-13590)AGC>AAC	p.S4530N	HERC2_uc001zbi.2_Missense_Mutation_p.S219N	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4530	HECT.				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)		GAACATGCTGCTGTGCACGGG	0.602												
TRPM1	4308	broad.mit.edu	37	15	31323186	31323186	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:31323186G>A	uc001zfm.2	-	22	3189	c.3061C>T	c.(3061-3063)CTC>TTC	p.L1021F	TRPM1_uc010azy.2_Missense_Mutation_p.L928F|TRPM1_uc001zfl.2_Intron	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1021	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		CTACTCTTACGGTCTATCTGG	0.413												
TRPM1	4308	broad.mit.edu	37	15	31355374	31355374	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:31355374G>A	uc001zfm.2	-	7	974	c.846C>T	c.(844-846)AGC>AGT	p.S282S	TRPM1_uc010azy.2_Silent_p.S195S|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	282	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		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)		AGGCACGTCCGCTGCCATCAC	0.582												
OTUD7A	161725	broad.mit.edu	37	15	31776544	31776544	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:31776544C>T	uc001zfq.2	-	11	1827	c.1734G>A	c.(1732-1734)TCG>TCA	p.S578S	OTUD7A_uc001zfr.2_Silent_p.S585S	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	578						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		ACGTGCTGGCCGACGCACCAG	0.711												
OTUD7A	161725	broad.mit.edu	37	15	31822996	31822996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:31822996C>T	uc001zfq.2	-	4	659	c.566G>A	c.(565-567)TGG>TAG	p.W189*	OTUD7A_uc001zfr.2_Nonsense_Mutation_p.W189*	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	189	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CACAGTGGACCACCAGTTCAG	0.532												
CHRNA7	1139	broad.mit.edu	37	15	32460210	32460210	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:32460210C>T	uc001zft.2	+	10	1132	c.1060C>T	c.(1060-1062)CGC>TGC	p.R354C	uc001zfv.1_Intron|CHRNA7_uc010baf.2_Missense_Mutation_p.R173C|CHRNA7_uc010bak.2_Missense_Mutation_p.R269C	NM_000746	NP_000737	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7	354	Cytoplasmic (Potential).				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			ovary(1)	1		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GGACAAGGTGCGCCCGGCCTG	0.652												
FMN1	342184	broad.mit.edu	37	15	33192195	33192195	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:33192195C>A	uc001zhf.3	-	10	2970	c.2970G>T	c.(2968-2970)AAG>AAT	p.K990N		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1213	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTTTGACATCCTTGAGTTTGG	0.343												
RYR3	6263	broad.mit.edu	37	15	34072425	34072425	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:34072425C>T	uc001zhi.2	+	65	9221	c.9151C>T	c.(9151-9153)CTT>TTT	p.L3051F	RYR3_uc010bar.2_Missense_Mutation_p.L3051F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3051	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)		ACGCCCTGCCCTTGGAGAATG	0.547												
SLC12A6	9990	broad.mit.edu	37	15	34532905	34532905	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:34532905C>T	uc001zhw.2	-	18	2557	c.2393G>A	c.(2392-2394)GGG>GAG	p.G798E	SLC12A6_uc001zhv.2_Missense_Mutation_p.G747E|SLC12A6_uc001zhx.2_Missense_Mutation_p.G783E|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.G739E|SLC12A6_uc001zib.2_Missense_Mutation_p.G789E|SLC12A6_uc001zic.2_Missense_Mutation_p.G798E|SLC12A6_uc010bau.2_Missense_Mutation_p.G798E|SLC12A6_uc001zid.2_Missense_Mutation_p.G739E|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.G610E	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	798					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TAGGAAGTTCCCCACGATGAC	0.468												
SPRED1	161742	broad.mit.edu	37	15	38641697	38641697	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:38641697A>C	uc001zka.3	+	6	992	c.657A>C	c.(655-657)GAA>GAC	p.E219D		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	219					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TATCCAAGGAATGTGGAAGCC	0.343									Legius_syndrome			
SPRED1	161742	broad.mit.edu	37	15	38643475	38643475	+	Silent	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:38643475T>G	uc001zka.3	+	7	1280	c.945T>G	c.(943-945)CCT>CCG	p.P315P		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	315					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGACGCAGCCTTCCTCATTAA	0.378									Legius_syndrome			
C15orf53	400359	broad.mit.edu	37	15	38990598	38990598	+	Missense_Mutation	SNP	G	G	A	rs143270407	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:38990598G>A	uc001zkf.1	+	2	402	c.392G>A	c.(391-393)CGC>CAC	p.R131H		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	hypothetical protein LOC400359	131											0		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		ACTGTGCCCCGCCGTTCACCA	0.552												
THBS1	7057	broad.mit.edu	37	15	39874832	39874832	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:39874832T>C	uc001zkh.2	+	3	685	c.506T>C	c.(505-507)ATC>ACC	p.I169T		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	169	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAGCTGTACATCGACTGTGAA	0.572												
DISP2	85455	broad.mit.edu	37	15	40656425	40656425	+	Splice_Site	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:40656425A>G	uc001zlk.1	+	3	539	c.450_splice	c.e3-2	p.R150_splice		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B						smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTCTTCCACAGGCAGGAACG	0.602												
CASC5	57082	broad.mit.edu	37	15	40916700	40916700	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:40916700T>C	uc010bbs.1	+	11	4477	c.4316T>C	c.(4315-4317)ATG>ACG	p.M1439T	CASC5_uc010ucq.1_Missense_Mutation_p.M1263T|CASC5_uc001zme.2_Missense_Mutation_p.M1413T|CASC5_uc010bbt.1_Missense_Mutation_p.M1413T	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1439					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTGGGGGAGATGACTAAACTT	0.348												
VPS18	57617	broad.mit.edu	37	15	41191917	41191917	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:41191917C>T	uc001zne.2	+	4	1240	c.901C>T	c.(901-903)CGC>TGC	p.R301C		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	301					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGACTGTGGGCGCCCTGACTC	0.647												
NUSAP1	51203	broad.mit.edu	37	15	41650412	41650412	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:41650412A>G	uc001zns.3	+	6	846	c.616A>G	c.(616-618)AAA>GAA	p.K206E	NUSAP1_uc001znq.3_Missense_Mutation_p.K11E|NUSAP1_uc001znr.3_Missense_Mutation_p.K206E|NUSAP1_uc010bce.2_Missense_Mutation_p.K206E|NUSAP1_uc001znt.3_Missense_Mutation_p.K191E|NUSAP1_uc001znv.3_Missense_Mutation_p.K205E|NUSAP1_uc001znu.3_Missense_Mutation_p.K205E|NUSAP1_uc010ucw.1_Missense_Mutation_p.K183E|NUSAP1_uc001znw.3_Missense_Mutation_p.K11E	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	206					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		TATTGAGAGAAAAAAGAAACA	0.264												
MGA	23269	broad.mit.edu	37	15	42032174	42032174	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:42032174G>T	uc010uda.1	+	3	332	c.206G>T	c.(205-207)AGG>ATG	p.R69M	MGA_uc010ucy.1_Intron|MGA_uc010ucz.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCAGCCAATAGGCTAGCTGCT	0.498												
MAPKBP1	23005	broad.mit.edu	37	15	42109622	42109622	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:42109622C>T	uc001zok.3	+	16	2052	c.1766C>T	c.(1765-1767)GCA>GTA	p.A589V	MAPKBP1_uc001zoj.3_Missense_Mutation_p.A583V|MAPKBP1_uc010bcj.2_Missense_Mutation_p.A90V|MAPKBP1_uc010bci.2_Missense_Mutation_p.A583V|MAPKBP1_uc010udb.1_Missense_Mutation_p.A422V|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.A90V	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	589	WD 9.									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)		AGCTGTGGAGCAGACAAGAGC	0.612												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42139713	42139713	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:42139713C>T	uc010bco.2	+	19	2227	c.2126C>T	c.(2125-2127)TCG>TTG	p.S709L	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.S940L|JMJD7-PLA2G4B_uc010bcn.2_Intron|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.S410L	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	709	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						CGGGAGTACTCGGCCCCTGGT	0.667												
SPTBN5	51332	broad.mit.edu	37	15	42178461	42178461	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:42178461G>A	uc001zos.2	-	7	1220	c.887C>T	c.(886-888)GCG>GTG	p.A296V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	331	Spectrin 1.				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)		AAAATCCCGCGCCTCCAGCTG	0.622												
GANC	2595	broad.mit.edu	37	15	42641671	42641671	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:42641671T>G	uc001zpi.2	+	22	2823	c.2509T>G	c.(2509-2511)TGT>GGT	p.C837G	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_5'UTR	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	837					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)		GTTTTCATTCTGTTCCAGTGT	0.393												
CAPN3	825	broad.mit.edu	37	15	42702149	42702149	+	Missense_Mutation	SNP	G	G	A	rs140425651		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:42702149G>A	uc001zpn.1	+	19	2377	c.2071G>A	c.(2071-2073)GGG>AGG	p.G691R	CAPN3_uc001zpk.1_Missense_Mutation_p.G458R|CAPN3_uc001zpl.1_Missense_Mutation_p.G598R|CAPN3_uc010udf.1_Missense_Mutation_p.G604R|CAPN3_uc010udg.1_Missense_Mutation_p.G556R|CAPN3_uc001zpo.1_Missense_Mutation_p.G685R|CAPN3_uc001zpp.1_Missense_Mutation_p.G599R|CAPN3_uc001zpq.1_Missense_Mutation_p.G179R|CAPN3_uc010bcv.1_Missense_Mutation_p.G26R|CAPN3_uc001zpr.1_Missense_Mutation_p.G26R|CAPN3_uc001zps.1_Missense_Mutation_p.G26R|CAPN3_uc001zpt.1_Missense_Mutation_p.G26R	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	691	Domain IV.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAAGACACACGGGTTCACACT	0.602												
TMEM62	80021	broad.mit.edu	37	15	43470863	43470863	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:43470863C>A	uc001zqr.2	+	12	1719	c.1440C>A	c.(1438-1440)AAC>AAA	p.N480K	TMEM62_uc010bda.2_Intron|TMEM62_uc001zqt.2_Missense_Mutation_p.N49K	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	480						integral to membrane				ovary(1)|breast(1)	2		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GCAAAATAAACATCTTCTACT	0.328												
B2M	567	broad.mit.edu	37	15	45007619	45007619	+	Splice_Site	SNP	A	A	G	rs111482205		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:45007619A>G	uc001zuc.2	+	2	128	c.68_splice	c.e2-2	p.R23_splice	B2M_uc010uek.1_Splice_Site_p.R23_splice|B2M_uc010bdx.1_Splice_Site_p.R23_splice	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GATATTCCTCAGGTACTCCAA	0.423												
DUOX2	50506	broad.mit.edu	37	15	45398489	45398489	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:45398489G>A	uc010bea.2	-	17	2185	c.1982C>T	c.(1981-1983)CCC>CTC	p.P661L	DUOX2_uc001zun.2_Missense_Mutation_p.P661L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	661	Cytoplasmic (Potential).				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)		GATGATGATGGGACTGCTCCT	0.607												
DUOX2	50506	broad.mit.edu	37	15	45399570	45399570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:45399570G>A	uc010bea.2	-	14	1869	c.1666C>T	c.(1666-1668)CAG>TAG	p.Q556*	DUOX2_uc001zun.2_Nonsense_Mutation_p.Q556*	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	556	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)		ACATTGGGCTGCAGGGCACTG	0.532												
SEMA6D	80031	broad.mit.edu	37	15	48057167	48057167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:48057167G>A	uc010bek.2	+	13	1701	c.1341G>A	c.(1339-1341)ATG>ATA	p.M447I	SEMA6D_uc001zvw.2_Missense_Mutation_p.M447I|SEMA6D_uc001zvx.1_Missense_Mutation_p.M447I|SEMA6D_uc001zvy.2_Missense_Mutation_p.M447I|SEMA6D_uc001zvz.2_Missense_Mutation_p.M447I|SEMA6D_uc001zwa.2_Missense_Mutation_p.M447I|SEMA6D_uc001zwb.2_Missense_Mutation_p.M447I|SEMA6D_uc001zwc.2_Missense_Mutation_p.M447I	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	447	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAGCTGGCATGGTACTTAAAG	0.468												
FBN1	2200	broad.mit.edu	37	15	48936954	48936954	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:48936954G>A	uc001zwx.1	-	2	341	c.13C>T	c.(13-15)CGT>TGT	p.R5C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	5					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCAGCAGACGCCCTCGACGC	0.692												
SECISBP2L	9728	broad.mit.edu	37	15	49303986	49303986	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:49303986T>C	uc001zxe.1	-	13	1940	c.1806A>G	c.(1804-1806)CCA>CCG	p.P602P	SECISBP2L_uc001zxd.1_Silent_p.P557P|SECISBP2L_uc010bep.1_Silent_p.P364P	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	602										breast(1)|skin(1)	2						GCATTTCTGTTGGTTCCTCGG	0.418												
MYO5C	55930	broad.mit.edu	37	15	52487639	52487639	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:52487639T>C	uc010bff.2	-	40	5148	c.5011A>G	c.(5011-5013)AAT>GAT	p.N1671D	MYO5C_uc010uga.1_RNA|uc002abv.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1671	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		GTGTATGAATTAAGGATCTTT	0.353												
FAM63B	54629	broad.mit.edu	37	15	59144134	59144134	+	Silent	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:59144134T>A	uc002afj.2	+	8	1909	c.1707T>A	c.(1705-1707)GCT>GCA	p.A569A	FAM63B_uc002afi.2_Silent_p.A569A|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	569	Gln-rich.									central_nervous_system(1)	1						AAGCAGCAGCTGCTGCTGCTG	0.383												
SLTM	79811	broad.mit.edu	37	15	59186117	59186117	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:59186117A>G	uc002afp.2	-	12	1639	c.1551T>C	c.(1549-1551)GAT>GAC	p.D517D	SLTM_uc002afn.2_Silent_p.D86D|SLTM_uc002afo.2_Silent_p.D499D|SLTM_uc002afq.2_Silent_p.D86D|SLTM_uc010bgd.2_Silent_p.D86D	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	517					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTTTCTTAGTATCCTTGCTTT	0.358												
SNX1	6642	broad.mit.edu	37	15	64422122	64422122	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:64422122G>A	uc002amv.2	+	9	851	c.815G>A	c.(814-816)CGT>CAT	p.R272H	SNX1_uc010bgv.2_Translation_Start_Site|SNX1_uc010uio.1_Missense_Mutation_p.R272H|SNX1_uc002amw.2_Missense_Mutation_p.R272H|SNX1_uc002amx.2_Missense_Mutation_p.R207H|SNX1_uc002amy.2_Missense_Mutation_p.R201H|SNX1_uc010bgw.2_Missense_Mutation_p.R174H	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	272	PX.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0						TAGCTGCCACGTGCCGTGGGT	0.473												
PLEKHO2	80301	broad.mit.edu	37	15	65157594	65157594	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:65157594A>T	uc002anv.2	+	6	1114	c.980A>T	c.(979-981)GAG>GTG	p.E327V	PLEKHO2_uc010bgz.2_Missense_Mutation_p.E3V|PLEKHO2_uc002anw.2_Missense_Mutation_p.E277V	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O	327	Pro-rich.									ovary(1)|lung(1)	2						TCCATGGGTGAGATGCAGGCT	0.602												
SPG21	51324	broad.mit.edu	37	15	65257735	65257735	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:65257735G>T	uc002aod.2	-	8	829	c.736C>A	c.(736-738)CGA>AGA	p.R246R	SPG21_uc002aoe.2_Silent_p.R246R|SPG21_uc010bhb.2_Silent_p.R219R|SPG21_uc010bhc.2_Silent_p.R92R	NM_001127889	NP_001121361	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 isoform a	246					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding				0						TGAGCTCTTCGGGCATTAGGA	0.433												
MEGF11	84465	broad.mit.edu	37	15	66191137	66191137	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:66191137G>A	uc002apm.2	-	22	3044	c.2903C>T	c.(2902-2904)CCT>CTT	p.P968L	MEGF11_uc002apl.2_Missense_Mutation_p.P893L|MEGF11_uc002apn.1_Missense_Mutation_p.P968L	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	968						basolateral plasma membrane|integral to membrane				pancreas(1)	1						CATGTGCACAGGCGACTTCAT	0.433												
TLE3	7090	broad.mit.edu	37	15	70348691	70348691	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:70348691G>A	uc002asm.2	-	14	2402	c.1283C>T	c.(1282-1284)CCG>CTG	p.P428L	TLE3_uc002ask.2_Missense_Mutation_p.P355L|TLE3_uc002asl.2_Missense_Mutation_p.P428L|TLE3_uc010ukd.1_Missense_Mutation_p.P418L|TLE3_uc010bik.1_Missense_Mutation_p.P9L|TLE3_uc010bil.1_Missense_Mutation_p.P425L|TLE3_uc002asn.2_Missense_Mutation_p.P416L|TLE3_uc002asp.2_Missense_Mutation_p.P420L|TLE3_uc002aso.2_Missense_Mutation_p.P423L	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	428	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						GGCCCGCATCGGGGGGTGAGG	0.607												
NPTN	27020	broad.mit.edu	37	15	73866028	73866028	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:73866028C>T	uc002avs.2	-	5	1012	c.815G>A	c.(814-816)CGC>CAC	p.R272H	NPTN_uc010bjc.2_Missense_Mutation_p.R272H|NPTN_uc002avt.2_Missense_Mutation_p.R156H|NPTN_uc002avr.2_Missense_Mutation_p.R156H|NPTN_uc010ula.1_Missense_Mutation_p.R67H	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	272	Ig-like 3.|Extracellular (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						CTCCTTCTTGCGCCATATCCA	0.552												
STRA6	64220	broad.mit.edu	37	15	74487706	74487706	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:74487706C>T	uc002axk.2	-	7	716	c.534G>A	c.(532-534)ACG>ACA	p.T178T	STRA6_uc002axi.2_Intron|STRA6_uc010ulh.1_Silent_p.T216T|STRA6_uc002axj.2_Silent_p.T217T|STRA6_uc010bji.2_Silent_p.T178T|STRA6_uc002axl.2_Silent_p.T110T|STRA6_uc002axm.2_Silent_p.T178T|STRA6_uc002axn.2_Silent_p.T169T|STRA6_uc010uli.1_Silent_p.T215T|STRA6_uc010bjj.1_RNA|STRA6_uc010bjk.2_3'UTR	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	178	Extracellular (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						CCCAGGACAGCGTGCTGCCGA	0.632												
SEMA7A	8482	broad.mit.edu	37	15	74707019	74707019	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:74707019G>A	uc002axv.2	-	10	1203	c.1163C>T	c.(1162-1164)GCG>GTG	p.A388V	SEMA7A_uc010ulk.1_Missense_Mutation_p.A223V|SEMA7A_uc010ull.1_Missense_Mutation_p.A374V	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	388	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2						CACCCTCTGCGCCACCTCTGG	0.632												
MAN2C1	4123	broad.mit.edu	37	15	75652923	75652923	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:75652923A>G	uc002baf.2	-	13	1584	c.1567T>C	c.(1567-1569)TAC>CAC	p.Y523H	MAN2C1_uc002bag.2_Missense_Mutation_p.Y523H|MAN2C1_uc002bah.2_Missense_Mutation_p.Y523H|MAN2C1_uc010bkk.2_Missense_Mutation_p.Y424H|MAN2C1_uc010umi.1_Missense_Mutation_p.Y305H	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	523					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						TGGGTGGTGTATGTGCCATTG	0.597												
SIN3A	25942	broad.mit.edu	37	15	75685046	75685046	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:75685046G>A	uc002bai.2	-	15	2647	c.2388C>T	c.(2386-2388)CAC>CAT	p.H796H	SIN3A_uc002baj.2_Silent_p.H796H|SIN3A_uc010uml.1_Silent_p.H796H	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	796	Interactions with HDAC1 and ARID4B.|Interaction with NCOR1 (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						TCTTCACATGGTGGATAATCA	0.443												
SGK269	79834	broad.mit.edu	37	15	77473379	77473379	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:77473379C>T	uc002bcm.2	-	3	1198	c.890G>A	c.(889-891)CGA>CAA	p.R297Q	SGK269_uc002bcn.2_Missense_Mutation_p.R297Q	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	297					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		AGACTTGTTTCGCAGGGGGAT	0.438												
LINGO1	84894	broad.mit.edu	37	15	77908005	77908005	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:77908005G>A	uc002bct.1	-	2	296	c.244C>T	c.(244-246)CGC>TGC	p.R82C	LINGO1_uc002bcu.1_Missense_Mutation_p.R76C	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	82	Extracellular (Potential).|LRR 1.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						GTTTTGATGCGGTTCTTGCCT	0.662												
ACSBG1	23205	broad.mit.edu	37	15	78526805	78526805	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:78526805G>A	uc002bdh.2	-	1	95	c.39C>T	c.(37-39)CAC>CAT	p.H13H	ACSBG1_uc010umw.1_Silent_p.H13H|ACSBG1_uc010umx.1_Translation_Start_Site|ACSBG1_uc010umy.1_Translation_Start_Site	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	13					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1						TGGGGTCCCCGTGTGGGCAGC	0.567												
ADAMTS7	11173	broad.mit.edu	37	15	79092633	79092633	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:79092633C>T	uc002bej.3	-	2	568	c.357G>A	c.(355-357)GCG>GCA	p.A119A	ADAMTS7_uc010und.1_Silent_p.A119A|ADAMTS7_uc002bek.1_Silent_p.A119A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	119					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CCCGGATGTgcgcgcggccca	0.607												
CTSH	1512	broad.mit.edu	37	15	79229754	79229754	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:79229754G>T	uc002ben.2	-	4	196	c.99C>A	c.(97-99)ACC>ACA	p.T33T	CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Intron|CTSH_uc010ung.1_Silent_p.T45T	NM_148979	NP_683880	P09668	CATH_HUMAN	cathepsin H isoform b precursor	45					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(2)|large_intestine(1)	3						CCGTACTGTAGGTCTTACGGT	0.478												
ARNT2	9915	broad.mit.edu	37	15	80855535	80855535	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:80855535A>G	uc002bfr.2	+	12	1437	c.1271A>G	c.(1270-1272)TAT>TGT	p.Y424C	ARNT2_uc010unm.1_Missense_Mutation_p.Y413C|ARNT2_uc002bfs.2_Missense_Mutation_p.Y413C	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	424	PAC.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			CAGAATCCCTATTCTGATGAG	0.502												
HOMER2	9455	broad.mit.edu	37	15	83520895	83520895	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:83520895G>A	uc002bjg.2	-	7	980	c.794C>T	c.(793-795)ACA>ATA	p.T265I	HOMER2_uc002bjh.2_Missense_Mutation_p.T254I|HOMER2_uc002bjj.2_Missense_Mutation_p.T199I|HOMER2_uc002bji.2_Missense_Mutation_p.T210I	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	265	Potential.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						ATTACTCACTGTCTCCTTTTC	0.587												
HOMER2	9455	broad.mit.edu	37	15	83523493	83523493	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:83523493C>T	uc002bjg.2	-	6	773	c.587G>A	c.(586-588)CGG>CAG	p.R196Q	HOMER2_uc002bjh.2_Missense_Mutation_p.R185Q|HOMER2_uc002bjj.2_Intron|HOMER2_uc002bji.2_Intron	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	196	Potential.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						TGTGGTCAGCCGTGCATTGCT	0.627												
TM6SF1	53346	broad.mit.edu	37	15	83776454	83776454	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:83776454G>A	uc002bjp.2	+	1	131	c.22G>A	c.(22-24)GGG>AGG	p.G8R	TM6SF1_uc010bmq.2_Missense_Mutation_p.G8R|TM6SF1_uc002bjq.2_Missense_Mutation_p.G8R|TM6SF1_uc010bmr.2_RNA	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	8	Helical; (Potential).					integral to membrane				ovary(1)	1						TGCGGCCACCGGGGTCTTCGT	0.647												
DET1	55070	broad.mit.edu	37	15	89074194	89074194	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:89074194C>T	uc002bmr.2	-	2	895	c.743G>A	c.(742-744)GGC>GAC	p.G248D	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.G259D	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	248						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AATGAAAGTGCCTTCAGGAGT	0.502												
ACAN	176	broad.mit.edu	37	15	89401038	89401038	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:89401038G>T	uc010upo.1	+	12	5596	c.5222G>T	c.(5221-5223)GGG>GTG	p.G1741V	ACAN_uc010upp.1_Missense_Mutation_p.G1741V|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1741					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCCATCAGGGTTTCCTGAC	0.517												
POLG	5428	broad.mit.edu	37	15	89876827	89876828	+	Missense_Mutation	DNP	TT	TT	AG	rs41550117		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:89876827_89876828TT>AG	uc002bns.3	-	2	440_441	c.158_159AA>CT	c.(157-159)CAA>CCT	p.Q53P	POLG_uc002bnr.3_Missense_Mutation_p.Q53P	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	53	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gaggctgctgttgctgctgctg	0.46								DNA_polymerases_(catalytic_subunits)				
POLG	5428	broad.mit.edu	37	15	89876836	89876836	+	Silent	SNP	C	C	T	rs71879812		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:89876836C>T	uc002bns.3	-	2	432	c.150G>A	c.(148-150)CAG>CAA	p.Q50Q	POLG_uc002bnr.3_Silent_p.Q50Q	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	50	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gttgctgctgctgctgctgct	0.473								DNA_polymerases_(catalytic_subunits)				
IQGAP1	8826	broad.mit.edu	37	15	91017330	91017330	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:91017330G>A	uc002bpl.1	+	22	2641	c.2540G>A	c.(2539-2541)CGG>CAG	p.R847Q		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	847	IQ 4.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTTTTATTCGGGCAAACAAA	0.428												
FES	2242	broad.mit.edu	37	15	91430551	91430551	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:91430551G>A	uc002bpv.2	+	5	715	c.619G>A	c.(619-621)GGC>AGC	p.G207S	FES_uc010uqj.1_Missense_Mutation_p.G149S|FES_uc010uqk.1_Missense_Mutation_p.G189S|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.G149S|FES_uc002bpx.2_Missense_Mutation_p.G207S|FES_uc002bpy.2_Missense_Mutation_p.G149S	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	207	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGCTGCCCGGCCTGCTGCG	0.672												
ST8SIA2	8128	broad.mit.edu	37	15	93007591	93007591	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:93007591C>T	uc002bra.2	+	6	1259	c.1104C>T	c.(1102-1104)GTC>GTT	p.V368V	ST8SIA2_uc002brb.2_Silent_p.V347V	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	368	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AACTGACTGTCGGCCAGTGCG	0.602												
ASB7	140460	broad.mit.edu	37	15	101152540	101152540	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:101152540C>T	uc002bwk.2	+	4	888	c.119C>T	c.(118-120)CCG>CTG	p.P40L	ASB7_uc002bwj.2_Missense_Mutation_p.P40L	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	40	ANK 1.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			GGCTATTCCCCGAATGGCCGA	0.527												
RHBDF1	64285	broad.mit.edu	37	16	111619	111619	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:111619C>T	uc002cfl.3	-	12	1432	c.1284G>A	c.(1282-1284)GCG>GCA	p.A428A	RHBDF1_uc010uty.1_Silent_p.A451A|RHBDF1_uc010utz.1_Silent_p.A428A|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	428	Helical; (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCCCACGGGCGCGATGCCAT	0.667												
RHBDF1	64285	broad.mit.edu	37	16	113084	113084	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:113084C>T	uc002cfl.3	-	8	707	c.559G>A	c.(559-561)GCC>ACC	p.A187T	RHBDF1_uc010uty.1_Missense_Mutation_p.A210T|RHBDF1_uc010utz.1_Missense_Mutation_p.A187T|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	187	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGAGGGAGGCAGCACCCGGC	0.692												
NPRL3	8131	broad.mit.edu	37	16	167353	167353	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:167353G>T	uc002cfr.2	-	5	439	c.340C>A	c.(340-342)CCG>ACG	p.P114T	NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Intron|NPRL3_uc010uub.1_Intron|NPRL3_uc010uuc.1_Missense_Mutation_p.P36T|NPRL3_uc002cfs.1_Intron	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	114							protein binding			ovary(1)	1						TCCCTCTTCGGGGAAGGATCT	0.403												
DECR2	26063	broad.mit.edu	37	16	457533	457533	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:457533T>C	uc002chb.2	+	4	416	c.310T>C	c.(310-312)TTT>CTT	p.F104L	DECR2_uc002chc.2_Missense_Mutation_p.F20L|DECR2_uc010bqv.2_Missense_Mutation_p.F20L|DECR2_uc002chd.2_Missense_Mutation_p.F20L|DECR2_uc002che.1_RNA	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2	104						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding				0		Hepatocellular(16;0.00015)				TCTGAAGGAGTTTGGCAGAAT	0.607												
STUB1	10273	broad.mit.edu	37	16	731318	731318	+	Missense_Mutation	SNP	G	G	A	rs148553428	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:731318G>A	uc002cit.2	+	2	737	c.326G>A	c.(325-327)AGC>AAC	p.S109N	STUB1_uc002ciu.2_Missense_Mutation_p.S37N|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	109	TPR 3.				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)				GAGATGGAGAGCTATGATGAG	0.672												
WDR24	84219	broad.mit.edu	37	16	739373	739373	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:739373G>A	uc002ciz.1	-	1	1028	c.268C>T	c.(268-270)CTG>TTG	p.L90L		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	152	WD 1.									ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				GCTGTGGCCAGCAGGTTCTCA	0.602												
CHTF18	63922	broad.mit.edu	37	16	847077	847077	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:847077G>A	uc002cke.3	+	20	2781	c.2718G>A	c.(2716-2718)GCG>GCA	p.A906A	CHTF18_uc002ckf.3_Silent_p.A934A|CHTF18_uc010brf.2_Silent_p.A488A|CHTF18_uc002ckg.3_Silent_p.A424A	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	906					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				TGAGGCGAGCGGCCCGGGAGG	0.667												
SSTR5	6755	broad.mit.edu	37	16	1129911	1129911	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:1129911C>T	uc002ckq.2	+	1	1131	c.1043C>T	c.(1042-1044)CCA>CTA	p.P348L	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	348	Cytoplasmic (Potential).			PPAHR -> RPRT (in Ref. 1; AAA20828).	negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GAGGCCACGCCACCCGCGCAC	0.701												
HAGH	3029	broad.mit.edu	37	16	1866933	1866933	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:1866933G>A	uc002cna.2	-	7	1115	c.708C>T	c.(706-708)CCC>CCT	p.P236P	HAGH_uc002cmz.2_Silent_p.P188P|HAGH_uc010uvp.1_Missense_Mutation_p.P200L|HAGH_uc002cnb.1_Silent_p.P188P	NM_005326	NP_005317	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase isoform 1	236					glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CGGCATTGCCGGGCTCCACGT	0.627												
TBL3	10607	broad.mit.edu	37	16	2024963	2024963	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:2024963C>T	uc002cnu.1	+	7	601	c.499C>T	c.(499-501)CTG>TTG	p.L167L	TBL3_uc002cnv.1_Silent_p.L53L|TBL3_uc010bsb.1_5'UTR|TBL3_uc010bsc.1_Silent_p.L53L|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	167	WD 3.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						TACACGCCTGCTGCTCTTCTC	0.682												
ZSCAN10	84891	broad.mit.edu	37	16	3139545	3139545	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:3139545G>A	uc002ctv.1	-	5	1813	c.1725C>T	c.(1723-1725)GGC>GGT	p.G575G	ZSCAN10_uc002cty.1_Silent_p.G236G|ZSCAN10_uc002ctw.1_Silent_p.G493G|ZSCAN10_uc002ctx.1_Silent_p.G503G	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	575					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						AGGGCTTCTCGCCCGTGTGGC	0.711												
OR1F1	4992	broad.mit.edu	37	16	3254621	3254621	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:3254621C>T	uc010uwu.1	+	1	375	c.375C>T	c.(373-375)GCC>GCT	p.A125A		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACTTTGTCGCCGTGTGCCACC	0.502												
VASN	114990	broad.mit.edu	37	16	4431967	4431967	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:4431967C>T	uc002cwj.1	+	2	1244	c.1089C>T	c.(1087-1089)CCC>CCT	p.P363P	CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	slit-like 2 precursor	363	Extracellular (Potential).					extracellular region|integral to membrane					0						CCACGAGGCCCGTGGTGCGGG	0.687												
C16orf71	146562	broad.mit.edu	37	16	4790616	4790616	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:4790616C>T	uc002cxn.2	+	4	1201	c.739C>T	c.(739-741)CCC>TCC	p.P247S		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	247										central_nervous_system(1)	1						ATCCAAAATGCCCCTCGTGGA	0.657												
PPL	5493	broad.mit.edu	37	16	4944524	4944524	+	Silent	SNP	C	C	T	rs141007351		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:4944524C>T	uc002cyd.1	-	12	1428	c.1338G>A	c.(1336-1338)CCG>CCA	p.P446P		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	446	Spectrin 2.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						AACACACGGCCGGAGCAATCA	0.632												
CIITA	4261	broad.mit.edu	37	16	11000684	11000684	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:11000684C>T	uc002dai.3	+	11	1468	c.1335C>T	c.(1333-1335)TAC>TAT	p.Y445Y	CIITA_uc002daj.3_Silent_p.Y446Y|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Silent_p.Y445Y|CIITA_uc002dah.2_Silent_p.Y397Y|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	445	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						TTCCCCAGTACGACTTTGTCT	0.622			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
TXNDC11	51061	broad.mit.edu	37	16	11785753	11785753	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:11785753C>T	uc010buu.1	-	9	1436	c.1374G>A	c.(1372-1374)CAG>CAA	p.Q458Q	TXNDC11_uc002dbg.1_Silent_p.Q431Q	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	458					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						AGGAGTGCCACTGGGGCAGCA	0.642												
RUNDC2A	84127	broad.mit.edu	37	16	12136881	12136881	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:12136881A>T	uc002dbw.1	+	5	437	c.375A>T	c.(373-375)GAA>GAT	p.E125D		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	125	RUN.									ovary(1)	1						CCCTCAACGAACACTCCCTGG	0.622			T	CIITA	PMBL|Hodgkin Lymphona|							
SNX29	92017	broad.mit.edu	37	16	12223537	12223537	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:12223537G>A	uc002dby.3	+	6	418	c.362G>A	c.(361-363)CGG>CAG	p.R121Q	SNX29_uc010uyx.1_Missense_Mutation_p.R148Q	NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	121	Potential.				cell communication		phosphatidylinositol binding			ovary(1)	1						GCCGCGCTCCGGCAAGAGGTG	0.607												
MYH11	4629	broad.mit.edu	37	16	15818575	15818575	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:15818575G>A	uc002ddy.2	-	30	4152	c.4045C>T	c.(4045-4047)CAA>TAA	p.Q1349*	MYH11_uc002ddv.2_Nonsense_Mutation_p.Q1356*|MYH11_uc002ddw.2_Nonsense_Mutation_p.Q1349*|MYH11_uc002ddx.2_Nonsense_Mutation_p.Q1356*|MYH11_uc010bvg.2_Nonsense_Mutation_p.Q1181*|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Nonsense_Mutation_p.Q55*|NDE1_uc002ddz.1_RNA	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1349	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						AGCTGGTCTTGCAGGCTGTTC	0.582			T	CBFB	AML							
ABCC6	368	broad.mit.edu	37	16	16259624	16259624	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:16259624C>T	uc002den.3	-	23	3199	c.3162G>A	c.(3160-3162)ACG>ACA	p.T1054T	ABCC6_uc010bvo.2_RNA	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1054	Cytoplasmic (By similarity).|ABC transmembrane type-1 2.				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)		CCACGTCAACCGTGTCTGTCT	0.582												
SMG1	23049	broad.mit.edu	37	16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:18937330T>C	uc002dfm.2	-	1	397	c.34A>G	c.(34-36)AGC>GGC	p.S12G		NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	12	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						ccgccgccgctgcTCAGCCGA	0.627												
GP2	2813	broad.mit.edu	37	16	20335392	20335392	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:20335392C>T	uc002dgv.2	-	3	364	c.281G>A	c.(280-282)CGC>CAC	p.R94H	GP2_uc002dgw.2_Missense_Mutation_p.R94H|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	94						anchored to membrane|extracellular region|plasma membrane		p.R94S(1)		ovary(3)|skin(1)	4						CCCTACAAAGCGGTACCAGCC	0.582												
ACSM2A	123876	broad.mit.edu	37	16	20481029	20481029	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:20481029A>C	uc010bwe.2	+	5	823	c.584A>C	c.(583-585)AAG>ACG	p.K195T	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.K116T|ACSM2A_uc002dhf.3_Missense_Mutation_p.K195T|ACSM2A_uc002dhg.3_Missense_Mutation_p.K195T|ACSM2A_uc010vay.1_Missense_Mutation_p.K116T	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	195					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						CTGAACTTCAAGAAACTACTA	0.269												
USP31	57478	broad.mit.edu	37	16	23091266	23091266	+	Splice_Site	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:23091266C>T	uc002dll.2	-	13	2176	c.2176_splice	c.e13+1	p.A726_splice	USP31_uc010bxm.2_Intron	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		ACACTGCAGACCTGTGTAGTG	0.572												
TNRC6A	27327	broad.mit.edu	37	16	24828182	24828182	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:24828182C>A	uc002dmm.2	+	20	4991	c.4877C>A	c.(4876-4878)CCT>CAT	p.P1626H	TNRC6A_uc010bxs.2_Missense_Mutation_p.P1373H|TNRC6A_uc002dmn.2_Missense_Mutation_p.P1324H|TNRC6A_uc002dmo.2_Missense_Mutation_p.P1265H	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1626					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		AACATTGACCCTGAAACTGAC	0.408												
ARHGAP17	55114	broad.mit.edu	37	16	24942149	24942149	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:24942149C>T	uc002dnb.2	-	19	2564	c.2471G>A	c.(2470-2472)AGC>AAC	p.S824N	ARHGAP17_uc002dmx.2_Missense_Mutation_p.S86N|ARHGAP17_uc002dmw.2_Missense_Mutation_p.S86N|ARHGAP17_uc002dmy.2_Missense_Mutation_p.S269N|ARHGAP17_uc002dmz.2_Missense_Mutation_p.S348N|ARHGAP17_uc002dna.2_Missense_Mutation_p.S551N|ARHGAP17_uc002dnc.2_Missense_Mutation_p.S746N|ARHGAP17_uc010vcf.1_Missense_Mutation_p.S567N|ARHGAP17_uc002dne.1_Missense_Mutation_p.S86N	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	824					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GGTGAGGCTGCTGTCCCCAGC	0.557												
KIAA0556	23247	broad.mit.edu	37	16	27710866	27710866	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:27710866A>G	uc002dow.2	+	10	1149	c.1125A>G	c.(1123-1125)GGA>GGG	p.G375G	KIAA0556_uc002dox.1_Silent_p.G283G	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	375										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						ATGCAGAAGGACCACCAGCAA	0.507												
KIAA0556	23247	broad.mit.edu	37	16	27777751	27777751	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:27777751C>T	uc002dow.2	+	20	3955	c.3931C>T	c.(3931-3933)CGC>TGC	p.R1311C		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1311										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CGCAGGCCTGCGCTTCTGGAA	0.602												
ATP2A1	487	broad.mit.edu	37	16	28898955	28898955	+	Silent	SNP	C	C	T	rs145160426		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:28898955C>T	uc002dro.1	+	8	1024	c.840C>T	c.(838-840)AAC>AAT	p.N280N	uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.N280N|ATP2A1_uc002drp.1_Silent_p.N155N|ATP2A1_uc010bym.1_5'Flank	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	280	Lumenal (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCCACTTCAACGACCCCGTCC	0.577												
LAT	27040	broad.mit.edu	37	16	28996808	28996808	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:28996808G>A	uc002dsd.2	+	1	422	c.70G>A	c.(70-72)GCA>ACA	p.A24T	uc010vct.1_Intron|SPNS1_uc010byq.1_3'UTR|LAT_uc010vdj.1_Missense_Mutation_p.A60T|LAT_uc002dsb.2_Missense_Mutation_p.A24T|LAT_uc002dsc.2_Missense_Mutation_p.A24T|LAT_uc010vdk.1_Missense_Mutation_p.A24T|LAT_uc010vdl.1_Missense_Mutation_p.A24T	NM_014387	NP_055202	O43561	LAT_HUMAN	linker for activation of T cells isoform a	24	Helical; Signal-anchor for type III membrane protein; (Potential).				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity				0		Hepatocellular(780;0.244)				CATGTTGATGGCACTGTGTGT	0.662												
SPN	6693	broad.mit.edu	37	16	29675057	29675057	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:29675057C>T	uc002dtm.2	+	2	144	c.8C>T	c.(7-9)ACG>ATG	p.T3M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.T3M|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	3					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						GAAATGGCCACGCTTCTCCTT	0.632												
MAZ	4150	broad.mit.edu	37	16	29818097	29818097	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:29818097C>T	uc002dty.2	+	1	243	c.75C>T	c.(73-75)GGC>GGT	p.G25G	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Intron|MAZ_uc002dtw.2_Silent_p.G25G|MAZ_uc002dtx.2_Silent_p.G25G|MAZ_uc010bzg.2_Silent_p.G25G|MAZ_uc002dtz.1_5'Flank|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	25					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1						GGGGGGTGGGCGGCCTCATGA	0.726												
ZNF785	146540	broad.mit.edu	37	16	30594461	30594461	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:30594461C>A	uc002dyw.1	-	3	716	c.638G>T	c.(637-639)AGG>ATG	p.R213M	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Missense_Mutation_p.R198M|ZNF785_uc010vez.1_Missense_Mutation_p.R178M	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	213	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GAGCAGGTACCTGCGCTGGGA	0.677												
STX1B	112755	broad.mit.edu	37	16	31004789	31004789	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:31004789T>C	uc010cad.2	-	8	666	c.554A>G	c.(553-555)CAG>CGG	p.Q185R	STX1B_uc010vfd.1_Missense_Mutation_p.Q185R	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	185	Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0						CTTCGTCATCTGTGAGTCCAT	0.483												
PRSS53	339105	broad.mit.edu	37	16	31097788	31097788	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:31097788C>T	uc002eaq.2	-	5	533	c.533G>A	c.(532-534)CGC>CAC	p.R178H	PRSS53_uc002ear.2_5'UTR	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	polyserase 3 precursor	178	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity				0						GAGACGCAGGCGCAGATTGCG	0.617												
TRIM72	493829	broad.mit.edu	37	16	31235606	31235606	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:31235606G>A	uc002ebn.1	+	7	1193	c.964G>A	c.(964-966)GGG>AGG	p.G322R	uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	322	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						GCCGCCGGCCGGGGAGGACCC	0.701												
ABCC11	85320	broad.mit.edu	37	16	48256660	48256660	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:48256660A>G	uc002eff.1	-	5	976	c.626T>C	c.(625-627)CTT>CCT	p.L209P	ABCC11_uc002efg.1_Missense_Mutation_p.L209P|ABCC11_uc002efh.1_Missense_Mutation_p.L209P|ABCC11_uc010vgl.1_Missense_Mutation_p.L209P	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	209	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGAGAGAAAAAGGGCAAAGCA	0.468									Cerumen_Type			
ZNF423	23090	broad.mit.edu	37	16	49671222	49671222	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:49671222G>A	uc002efs.2	-	5	2139	c.1841C>T	c.(1840-1842)TCC>TTC	p.S614F	ZNF423_uc010vgn.1_Missense_Mutation_p.S497F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	614					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)				CCGCTTCGGGGAAGACACCTC	0.552												
CYLD	1540	broad.mit.edu	37	16	50785686	50785686	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:50785686G>A	uc002egp.1	+	5	1091	c.676G>A	c.(676-678)GAA>AAA	p.E226K	CYLD_uc002egn.1_Missense_Mutation_p.E226K|CYLD_uc002ego.2_Missense_Mutation_p.E226K|CYLD_uc010cbs.1_Missense_Mutation_p.E226K|CYLD_uc002egq.1_Missense_Mutation_p.E226K|CYLD_uc002egr.1_Missense_Mutation_p.E226K|CYLD_uc002egs.1_Missense_Mutation_p.E226K	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	226	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				AATGCAGGTCGAACTTCCTCC	0.418			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial			
IRX6	79190	broad.mit.edu	37	16	55359040	55359040	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:55359040G>A	uc002ehy.2	+	1	570	c.37G>A	c.(37-39)GCT>ACT	p.A13T	IRX6_uc002ehx.2_Missense_Mutation_p.A13T|IRX6_uc010ccb.1_5'Flank	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	13						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						GTACCGCGGCGCTTCCCAGGT	0.627												
OGFOD1	55239	broad.mit.edu	37	16	56501132	56501132	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:56501132A>G	uc002ejb.2	+	7	814	c.713A>G	c.(712-714)CAT>CGT	p.H238R	OGFOD1_uc002ejc.2_Missense_Mutation_p.H98R	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	238	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)	1					Vitamin C(DB00126)	GGCTGGTTTCATGGTCCATCA	0.478												
CETP	1071	broad.mit.edu	37	16	56996925	56996925	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:56996925A>G	uc002eki.2	+	2	179	c.122A>G	c.(121-123)AAC>AGC	p.N41S	CETP_uc002ekj.2_Missense_Mutation_p.N41S	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	41					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2						CCTCTAGTGAACCACGAGACT	0.612												
NLRC5	84166	broad.mit.edu	37	16	57054733	57054733	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:57054733C>T	uc002ekk.1	+	3	334	c.109C>T	c.(109-111)CCC>TCC	p.P37S	NLRC5_uc010ccq.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	37					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)				GTTCTTCCTCCCCAACACGGA	0.557												
NLRC5	84166	broad.mit.edu	37	16	57095358	57095358	+	Splice_Site	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:57095358A>G	uc002ekk.1	+	31	4212	c.3987_splice	c.e31-2	p.R1329_splice	NLRC5_uc002ekn.2_Splice_Site_p.R990_splice|NLRC5_uc002ekl.2_Splice_Site_p.R1133_splice|NLRC5_uc002ekm.2_Splice_Site_p.R1103_splice|NLRC5_uc010ccr.1_Splice_Site|NLRC5_uc010ccs.1_Splice_Site|NLRC5_uc002eko.1_Splice_Site|NLRC5_uc002ekp.1_Splice_Site_p.R244_splice|NLRC5_uc002ekq.1_Splice_Site|NLRC5_uc002ekr.1_Splice_Site_p.R216_splice	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27						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)				TTCTGCCCTCAGGCTAAGTGA	0.647												
SETD6	79918	broad.mit.edu	37	16	58550381	58550381	+	Splice_Site	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:58550381G>A	uc002ens.2	+	4	536	c.477_splice	c.e4-1	p.W159_splice	SETD6_uc010cdl.2_Splice_Site_p.W159_splice|SETD6_uc002enr.2_Splice_Site_p.W135_splice|SETD6_uc010cdm.2_Splice_Site|SETD6_uc010vij.1_Splice_Site_p.W83_splice	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a						negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1						TGTCCCTGCAGGCCAGAGGAG	0.617												
CNOT1	23019	broad.mit.edu	37	16	58566207	58566207	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:58566207C>T	uc002env.2	-	41	6281	c.5988G>A	c.(5986-5988)ATG>ATA	p.M1996I	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.M1991I|CNOT1_uc002ent.2_5'UTR|CNOT1_uc010vik.1_Missense_Mutation_p.M953I	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1996					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCAAGAGAAGCATGATAAAAA	0.408												
CDH8	1006	broad.mit.edu	37	16	61891117	61891117	+	Silent	SNP	C	C	T	rs150771208	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:61891117C>T	uc002eog.1	-	4	825	c.573G>A	c.(571-573)GCG>GCA	p.A191A	CDH8_uc002eoh.2_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	191	Extracellular (Potential).|Cadherin 2.				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)		CAGCGTCGGTCGCAGTGACGT	0.373												
CES3	23491	broad.mit.edu	37	16	67006313	67006313	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:67006313C>T	uc002eqt.2	+	11	1419	c.1346C>T	c.(1345-1347)GCG>GTG	p.A449V	CES3_uc010cdz.2_Missense_Mutation_p.A449V|CES3_uc010cea.2_RNA|CES3_uc010viw.1_Missense_Mutation_p.A88V	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	carboxylesterase 3 precursor	449						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			ovary(3)|central_nervous_system(2)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGTTCTTTTGCGAAGATCAAA	0.537												
SLC9A5	6553	broad.mit.edu	37	16	67298313	67298313	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:67298313A>C	uc002esm.2	+	13	1964	c.1901A>C	c.(1900-1902)AAG>ACG	p.K634T	SLC9A5_uc010cee.2_Missense_Mutation_p.K339T|SLC9A5_uc010vji.1_Missense_Mutation_p.K138T	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	634					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGGCAGGACAAGGAGGTCTTC	0.572												
LRRC36	55282	broad.mit.edu	37	16	67418856	67418856	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:67418856C>A	uc002esv.2	+	14	2148	c.2129C>A	c.(2128-2130)CCT>CAT	p.P710H	LRRC36_uc002esw.2_RNA|LRRC36_uc002esx.2_Missense_Mutation_p.P589H|LRRC36_uc010vjk.1_Missense_Mutation_p.P485H|LRRC36_uc010vjl.1_Missense_Mutation_p.P182H|LRRC36_uc002esy.2_Missense_Mutation_p.P220H	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	710											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTCCTGCCTCCTGAGAAGGGT	0.512												
CTRL	1506	broad.mit.edu	37	16	67965049	67965049	+	Silent	SNP	G	G	A	rs146079104	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:67965049G>A	uc002euw.2	-	2	118	c.108C>T	c.(106-108)AAC>AAT	p.N36N		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like precursor	36	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CATTCTCCCCGTTGACAATCC	0.622												
SMPD3	55512	broad.mit.edu	37	16	68405291	68405291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:68405291C>T	uc002ewa.2	-	3	1216	c.794G>A	c.(793-795)GGC>GAC	p.G265D	SMPD3_uc010cfe.2_Missense_Mutation_p.G265D|SMPD3_uc010vlh.1_Missense_Mutation_p.G265D	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	265	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCTGGCCTGGCCCCCAGGCAC	0.711												
ZFP90	146198	broad.mit.edu	37	16	68597621	68597621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:68597621C>T	uc010cff.2	+	5	1223	c.931C>T	c.(931-933)CAG>TAG	p.Q311*	ZFP90_uc002ewb.2_Silent_p.I116I|ZFP90_uc002ewc.2_Silent_p.I116I|ZFP90_uc002ewd.2_Nonsense_Mutation_p.Q311*|ZFP90_uc002ewe.2_Nonsense_Mutation_p.Q311*	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	311	C2H2-type 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GAAACCCTATCAGTGTAGTCT	0.488												
DDX19A	55308	broad.mit.edu	37	16	70400065	70400065	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:70400065A>G	uc002eyv.2	+	8	753	c.682A>G	c.(682-684)AAG>GAG	p.K228E	DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Missense_Mutation_p.K229E|DDX19A_uc010cfq.1_5'UTR|DDX19A_uc010cfr.2_Missense_Mutation_p.K78E|DDX19A_uc010cfs.2_Missense_Mutation_p.K51E|DDX19A_uc010vlz.1_Missense_Mutation_p.K197E|DDX19A_uc010vma.1_Missense_Mutation_p.K138E	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN	DDX19-like protein	228	Helicase ATP-binding.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				CTCCAAGCTCAAGTTCATTGA	0.517												
MTSS1L	92154	broad.mit.edu	37	16	70698348	70698348	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:70698348G>A	uc002ezj.2	-	15	1736	c.1476C>T	c.(1474-1476)TCC>TCT	p.S492S		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	492					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						AGTCGTAGTCGGAGCCTGGGG	0.677												
HYDIN	54768	broad.mit.edu	37	16	71209609	71209609	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:71209609C>T	uc002ezr.2	-	5	545	c.417G>A	c.(415-417)TCG>TCA	p.S139S	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Silent_p.S139S|HYDIN_uc010vmc.1_Silent_p.S156S|HYDIN_uc010vmd.1_Silent_p.S166S|HYDIN_uc002ezw.3_Silent_p.S156S	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	139										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TAAAGTAAGGCGAACTTTCTT	0.358												
CHST4	10164	broad.mit.edu	37	16	71571012	71571012	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:71571012T>C	uc002fan.2	+	2	613	c.432T>C	c.(430-432)GAT>GAC	p.D144D	CHST4_uc002fao.2_Silent_p.D144D	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	144	Lumenal (Potential).				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity				0						TCCCACAAGATGAAATCATCC	0.602												
PHLPP2	23035	broad.mit.edu	37	16	71748554	71748554	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:71748554T>C	uc002fax.2	-	1	151	c.145A>G	c.(145-147)ACC>GCC	p.T49A	PHLPP2_uc010cgf.2_Missense_Mutation_p.T49A|PHLPP2_uc002fay.1_Missense_Mutation_p.T49A	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	49	Poly-Thr.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						gaagaggaggTGGTGGTGGTT	0.388												
WDR59	79726	broad.mit.edu	37	16	74985388	74985388	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:74985388G>A	uc002fdh.1	-	4	396	c.294C>T	c.(292-294)GGC>GGT	p.G98G	WDR59_uc002fdi.2_Silent_p.G98G|WDR59_uc002fdj.2_Silent_p.G98G	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	98	WD 1.									ovary(1)|breast(1)	2						GTAAGGTTGTGCCAACTTCCC	0.493												
MON1B	22879	broad.mit.edu	37	16	77228987	77228987	+	Missense_Mutation	SNP	C	C	T	rs2232507		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:77228987C>T	uc002fez.2	+	4	1561	c.1231C>T	c.(1231-1233)CGG>TGG	p.R411W	MON1B_uc010vnf.1_Missense_Mutation_p.R302W|MON1B_uc010vng.1_Missense_Mutation_p.R265W|MON1B_uc002ffa.2_Missense_Mutation_p.R291W	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	411							protein binding				0						GCCGGGCCTCCGGCACTTCCT	0.642												
ADAMTS18	170692	broad.mit.edu	37	16	77393314	77393314	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:77393314G>A	uc002ffc.3	-	8	1642	c.1223C>T	c.(1222-1224)GCC>GTC	p.A408V	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.A104V|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	408	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						ACTGATGGGGGCAAACCCTAT	0.438												
CLEC3A	10143	broad.mit.edu	37	16	78064352	78064352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:78064352C>T	uc002ffh.3	+	3	289	c.208C>T	c.(208-210)CGA>TGA	p.R70*		NM_005752	NP_005743	O75596	CLC3A_HUMAN	C-type lectin domain family 3 member A	70					skeletal system development	extracellular region	sugar binding				0						AGTCTGTCTCCGAGGCACTAA	0.413												
PKD1L2	114780	broad.mit.edu	37	16	81134773	81134773	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:81134773G>T	uc002fgh.1	-	45	7335	c.7335C>A	c.(7333-7335)TCC>TCA	p.S2445S	PKD1L2_uc002fgf.1_Silent_p.S245S|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2445	Extracellular (Potential).|Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGCGAGTCTGGGACAGAGACC	0.567												
PKD1L2	114780	broad.mit.edu	37	16	81194324	81194324	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:81194324C>T	uc002fgh.1	-	22	3664	c.3664G>A	c.(3664-3666)GAT>AAT	p.D1222N	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1222	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTTTGGGCATCGTAGCTGCTC	0.557												
PLCG2	5336	broad.mit.edu	37	16	81957092	81957092	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:81957092T>C	uc002fgt.2	+	22	2462	c.2310T>C	c.(2308-2310)CCT>CCC	p.P770P		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	770	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CCTGAAAGCCTCAGAGAACCG	0.557												
OSGIN1	29948	broad.mit.edu	37	16	83994314	83994314	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:83994314C>T	uc002fha.2	+	5	977	c.594C>T	c.(592-594)CAC>CAT	p.H198H	OSGIN1_uc002fhb.2_Silent_p.H115H|OSGIN1_uc002fhc.2_Silent_p.H115H	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	198					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0						GGAAGGAGCACGCCATCCCCC	0.647												
ZCCHC14	23174	broad.mit.edu	37	16	87446393	87446393	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:87446393C>T	uc002fjz.1	-	12	1550	c.1523G>A	c.(1522-1524)CGC>CAC	p.R508H	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.R284H	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	508					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ATTCAGCATGCGGATGGGTGT	0.562												
SLC7A5	8140	broad.mit.edu	37	16	87870112	87870112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:87870112G>A	uc002fkm.2	-	8	1354	c.1282C>T	c.(1282-1284)CCC>TCC	p.P428S		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	428					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)		ACCTTGATGGGCCGCTCAAGC	0.627												
ZC3H18	124245	broad.mit.edu	37	16	88697651	88697651	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:88697651A>G	uc002fky.2	+	18	3006	c.2806A>G	c.(2806-2808)AAG>GAG	p.K936E	ZC3H18_uc010voz.1_Missense_Mutation_p.K960E|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Missense_Mutation_p.K206E	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	936	Potential.					nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GAAACAGCTGAAGGCCGTGGA	0.627												
CTU2	348180	broad.mit.edu	37	16	88780094	88780094	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:88780094C>T	uc002flm.2	+	9	961	c.913C>T	c.(913-915)CGG>TGG	p.R305W	CTU2_uc002fln.2_Missense_Mutation_p.R305W|CTU2_uc010chz.2_Missense_Mutation_p.R376W|CTU2_uc010cia.2_Missense_Mutation_p.R218W	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	305					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						GGTGGTGGTGCGGCCCATGCG	0.652												
CDH15	1013	broad.mit.edu	37	16	89258292	89258292	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:89258292C>T	uc002fmt.2	+	10	1682	c.1605C>T	c.(1603-1605)AGC>AGT	p.S535S		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	535	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGAGCCTCAGCCAGGTCAACG	0.552												
CPNE7	27132	broad.mit.edu	37	16	89645292	89645292	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:89645292G>A	uc002fnp.2	+	3	515	c.385G>A	c.(385-387)GTG>ATG	p.V129M	CPNE7_uc002fnq.2_Intron	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	129					lipid metabolic process		transporter activity				0		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCTGCAAGTCGTGATGAGAGT	0.587												
CHMP1A	5119	broad.mit.edu	37	16	89713100	89713100	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:89713100G>A	uc002fnu.2	-	6	537	c.404C>T	c.(403-405)TCG>TTG	p.S135L	CHMP1A_uc002fnt.2_Silent_p.L23L|CHMP1A_uc002fnv.2_Silent_p.L128L	NM_002768	NP_002759	Q9HD42	CHM1A_HUMAN	chromatin modifying protein 1A isoform 2	135					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding				0		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGTGGTGGCCGAGCTCATGGA	0.652												
DEF8	54849	broad.mit.edu	37	16	90028534	90028534	+	Splice_Site	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:90028534G>A	uc002fpn.1	+	9	1193	c.1104_splice	c.e9+1	p.R368_splice	DEF8_uc002fpo.1_Splice_Site_p.R307_splice|DEF8_uc002fpp.1_Splice_Site_p.R297_splice|DEF8_uc010vpq.1_Splice_Site_p.R247_splice|DEF8_uc010vpr.1_Splice_Site_p.R307_splice|DEF8_uc002fpq.1_5'Flank	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1						intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GGAGATTCGCGTGAGGCTGGG	0.667												
GAS8	2622	broad.mit.edu	37	16	90097848	90097848	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:90097848C>T	uc002fqi.1	+	3	354	c.232C>T	c.(232-234)CGG>TGG	p.R78W	GAS8_uc010vps.1_Missense_Mutation_p.R53W|GAS8_uc002fqh.2_5'UTR|GAS8_uc010vpt.1_Missense_Mutation_p.R78W|GAS8_uc010vpu.1_5'UTR|GAS8_uc010vpv.1_Missense_Mutation_p.R49W|GAS8_uc010cjc.1_5'UTR|GAS8_uc010vpw.1_5'UTR|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	78	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGCTGAGCTGCGGAACAAAGA	0.602												
TIMM22	29928	broad.mit.edu	37	17	900433	900433	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:900433T>C	uc002fsc.2	+	1	77	c.51T>C	c.(49-51)GGT>GGC	p.G17G		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22	17					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGACAGCGGGTTCCGCCGAAG	0.697												
SMYD4	114826	broad.mit.edu	37	17	1684630	1684630	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:1684630T>C	uc002ftm.3	-	11	2533	c.2365A>G	c.(2365-2367)AAA>GAA	p.K789E		NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	789							zinc ion binding			skin(3)|kidney(2)	5						AAACAGGATTTCATCTTCTGG	0.527												
HIC1	3090	broad.mit.edu	37	17	1961428	1961428	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:1961428G>A	uc010cjy.2	+	2	1501	c.1501G>A	c.(1501-1503)GGA>AGA	p.G501R	HIC1_uc002fty.3_Missense_Mutation_p.G482R|HIC1_uc002ftz.3_Missense_Mutation_p.G482R	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	501					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)		GGGTGGCCTGGGAGAGCTGCT	0.751												
METT10D	79066	broad.mit.edu	37	17	2324130	2324130	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:2324130G>A	uc002fut.2	-	9	1105	c.957C>T	c.(955-957)TCC>TCT	p.S319S	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.S101S	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	319							methyltransferase activity				0						CCTTCATCACGGACGCCAGCA	0.453												
OR1A1	8383	broad.mit.edu	37	17	3119024	3119024	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:3119024T>C	uc010vrc.1	+	1	110	c.110T>C	c.(109-111)ATC>ACC	p.I37T		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATTTACCCCATCACATTGATT	0.458												
TRPV1	7442	broad.mit.edu	37	17	3475428	3475428	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:3475428C>G	uc010vrr.1	-	13	2746	c.2219G>C	c.(2218-2220)CGG>CCG	p.R740P	TRPV1_uc010vro.1_Missense_Mutation_p.R751P|TRPV1_uc010vrp.1_Missense_Mutation_p.R680P|TRPV1_uc010vrq.1_Missense_Mutation_p.R738P|TRPV1_uc010vrs.1_Missense_Mutation_p.R740P|TRPV1_uc010vrt.1_Missense_Mutation_p.R740P|TRPV1_uc010vru.1_Missense_Mutation_p.R740P	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	740	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GAAGCACCACCGGTAGTCGTC	0.602												
GSG2	83903	broad.mit.edu	37	17	3628052	3628052	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:3628052C>T	uc002fwp.2	+	1	856	c.823C>T	c.(823-825)CTG>TTG	p.L275L	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	275					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						TAAAAGGAAACTGGTGGTGGG	0.532												
MYBBP1A	10514	broad.mit.edu	37	17	4442846	4442846	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:4442846T>C	uc002fyb.3	-	26	3913	c.3851A>G	c.(3850-3852)AAG>AGG	p.K1284R	MYBBP1A_uc002fxz.3_Missense_Mutation_p.K1284R|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.3_Missense_Mutation_p.K229R|MYBBP1A_uc010vsa.1_Missense_Mutation_p.K326R	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	1284	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						CAAGACCCCCTTTTTGGGAAG	0.582												
TM4SF5	9032	broad.mit.edu	37	17	4685824	4685824	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:4685824G>A	uc002fyw.1	+	3	316	c.285G>A	c.(283-285)GCG>GCA	p.A95A		NM_003963	NP_003954	O14894	T4S5_HUMAN	transmembrane 4 superfamily member 5	95	Helical; (Potential).					integral to plasma membrane				ovary(1)	1						TCTCCTCGGCGTTCGGGGTGC	0.627												
GPR172B	55065	broad.mit.edu	37	17	4937492	4937492	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:4937492G>T	uc002gap.3	-	3	1005	c.292C>A	c.(292-294)CTG>ATG	p.L98M	GPR172B_uc002gao.3_Missense_Mutation_p.L98M|GPR172B_uc010ckw.2_Translation_Start_Site|GPR172B_uc010ckx.2_Missense_Mutation_p.L98M	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	98	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0						TGGTGCCACAGAGGGGCCAGC	0.642												
ZNF594	84622	broad.mit.edu	37	17	5087385	5087385	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:5087385A>G	uc010cla.1	-	2	323	c.167T>C	c.(166-168)ATG>ACG	p.M56T		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						GAGATGTCTCATTGCATCCTT	0.438												
DVL2	1856	broad.mit.edu	37	17	7130487	7130487	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:7130487G>T	uc002gez.1	-	13	1747	c.1465C>A	c.(1465-1467)CGA>AGA	p.R489R	DVL2_uc010vtr.1_Silent_p.R483R	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	489	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						ACGGTGTGTCGGATCAGGCCT	0.592												
SPEM1	374768	broad.mit.edu	37	17	7324902	7324902	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:7324902A>G	uc002ggv.2	+	3	933	c.908A>G	c.(907-909)TAC>TGC	p.Y303C	FGF11_uc010vtw.1_Missense_Mutation_p.Y37C	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	303					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane					0		Prostate(122;0.173)				AATTGGGTGTACCGTTCCCTA	0.592												
POLR2A	5430	broad.mit.edu	37	17	7416391	7416391	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:7416391G>A	uc002ghf.3	+	29	5042	c.4808G>A	c.(4807-4809)CGC>CAC	p.R1603H		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1603	2; approximate.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				TACGAGCCCCGCTCTCCTGGG	0.582												
SENP3	26168	broad.mit.edu	37	17	7473797	7473797	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:7473797C>T	uc002ghm.2	+	9	1738	c.1465C>T	c.(1465-1467)CGC>TGC	p.R489C	EIF4A1_uc002gho.1_5'UTR|EIF4A1_uc002ghr.1_5'Flank|EIF4A1_uc002ghq.1_5'Flank|EIF4A1_uc002ghp.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	489	Protease.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				TACCCTAAACCGCCGCTGCCC	0.562												
C17orf68	80169	broad.mit.edu	37	17	8133224	8133224	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:8133224G>A	uc002gkq.3	-	18	3055	c.2996C>T	c.(2995-2997)CCT>CTT	p.P999L	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	999					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						GGTGGTCTCAGGGGGAAAACT	0.498												
MYH10	4628	broad.mit.edu	37	17	8396272	8396272	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:8396272T>C	uc002gll.2	-	31	4283	c.4187A>G	c.(4186-4188)AAG>AGG	p.K1396R	MYH10_uc002glm.2_Missense_Mutation_p.K1427R|MYH10_uc010cnx.2_Missense_Mutation_p.K1405R	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1396	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						CTTCAGAAGCTTCTTCTTGGC	0.522												
MFSD6L	162387	broad.mit.edu	37	17	8701551	8701551	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:8701551C>T	uc002glp.1	-	1	1036	c.888G>A	c.(886-888)TCG>TCA	p.S296S		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	296	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						ACACGCCTGCCGACATGCCCA	0.587												
USP43	124739	broad.mit.edu	37	17	9604465	9604465	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:9604465C>T	uc010cod.2	+	11	1565	c.1565C>T	c.(1564-1566)GCG>GTG	p.A522V	USP43_uc002gma.3_Missense_Mutation_p.A211V|USP43_uc010vva.1_Missense_Mutation_p.A522V|USP43_uc010coe.2_Missense_Mutation_p.A319V|USP43_uc002gmc.3_5'UTR	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	522					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GAGGAGCGAGCGCAGGATGCC	0.582												
MYH1	4619	broad.mit.edu	37	17	10404029	10404029	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:10404029A>C	uc002gmo.2	-	28	3873	c.3779T>G	c.(3778-3780)CTG>CGG	p.L1260R	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1260	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						AATTTCACTCAGTTGATCTTC	0.478												
DNAH9	1770	broad.mit.edu	37	17	11656223	11656223	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:11656223C>T	uc002gne.2	+	33	6752	c.6684C>T	c.(6682-6684)GGC>GGT	p.G2228G	DNAH9_uc010coo.2_Silent_p.G1522G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2228	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACTGGATGGCGACATAGATC	0.433												
MYOCD	93649	broad.mit.edu	37	17	12647672	12647672	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:12647672T>G	uc002gnn.2	+	8	1189	c.890T>G	c.(889-891)CTG>CGG	p.L297R	MYOCD_uc002gno.2_Missense_Mutation_p.L297R|MYOCD_uc002gnp.1_Missense_Mutation_p.L201R|MYOCD_uc002gnq.2_Missense_Mutation_p.L16R	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	297	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGCTGTTCCTGCAGCTCCAA	0.493												
COX10	1352	broad.mit.edu	37	17	13977692	13977692	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:13977692C>A	uc002gof.3	+	2	300	c.96C>A	c.(94-96)TCC>TCA	p.S32S	COX10_uc010vvs.1_5'UTR|COX10_uc010vvt.1_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	32					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TACAGGACTCCCCTCACAAGT	0.398												
TEKT3	64518	broad.mit.edu	37	17	15207323	15207323	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:15207323A>G	uc002gon.2	-	9	1590	c.1403T>C	c.(1402-1404)ATC>ACC	p.I468T		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	468					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTCCTGGTCGATGTACAGGGA	0.582												
CDRT1	374286	broad.mit.edu	37	17	15522766	15522766	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:15522766C>T	uc002gov.3	-	1	253	c.61G>A	c.(61-63)GAT>AAT	p.D21N	TRIM16_uc002gor.1_Intron	NM_006382	NP_006373	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	21											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GGGATGGAATCGGTTCCCTTC	0.473												
NCOR1	9611	broad.mit.edu	37	17	15942757	15942757	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:15942757T>C	uc002gpo.2	-	44	7185	c.6945A>G	c.(6943-6945)TCA>TCG	p.S2315S	NCOR1_uc002gpn.2_Silent_p.S2212S|NCOR1_uc002gpl.2_Silent_p.S330S|NCOR1_uc002gpm.2_Silent_p.S835S|NCOR1_uc010vwb.1_Silent_p.S899S|NCOR1_uc010coy.2_Silent_p.S1223S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2315	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)		CTGAATGAGGTGATGGGTCCC	0.463												
NCOR1	9611	broad.mit.edu	37	17	15973538	15973538	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:15973538G>T	uc002gpo.2	-	31	4694	c.4454C>A	c.(4453-4455)CCT>CAT	p.P1485H	NCOR1_uc002gpn.2_Missense_Mutation_p.P1501H|NCOR1_uc002gpp.1_Missense_Mutation_p.P1392H|NCOR1_uc002gpm.2_5'Flank|NCOR1_uc010vwb.1_Missense_Mutation_p.P69H|NCOR1_uc010coy.2_Missense_Mutation_p.P393H|NCOR1_uc010vwc.1_Missense_Mutation_p.P296H	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1485	Interaction with ETO.				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)		ATAACTCACAGGGGTCCTCCG	0.478												
TRPV2	51393	broad.mit.edu	37	17	16327046	16327046	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:16327046C>A	uc002gpy.2	+	5	1256	c.889C>A	c.(889-891)CCT>ACT	p.P297T	TRPV2_uc002gpz.2_Intron	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	297	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 6.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GGATCTCACGCCTCTGAAGCT	0.602												
MPRIP	23164	broad.mit.edu	37	17	17075078	17075078	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:17075078A>C	uc002gqu.1	+	16	2266	c.2210A>C	c.(2209-2211)AAG>ACG	p.K737T	MPRIP_uc002gqv.1_Missense_Mutation_p.K737T|MPRIP_uc002gqw.1_Missense_Mutation_p.K492T|MPRIP_uc002gqx.1_Missense_Mutation_p.K966T|MPRIP_uc002gqy.1_Missense_Mutation_p.K966T|MPRIP_uc010cpl.1_5'Flank|MPRIP_uc010cpm.1_5'Flank	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	737	Interaction with RHOA.|Potential.					cytoplasm|cytoskeleton	actin binding				0						ACGCACCAGAAGAAGATTGAA	0.527												
RAI1	10743	broad.mit.edu	37	17	17697887	17697887	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:17697887T>C	uc002grm.2	+	3	2094	c.1625T>C	c.(1624-1626)GTC>GCC	p.V542A	RAI1_uc002grn.1_Missense_Mutation_p.V542A	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	542						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGCCAGGGTCAACAGCAAC	0.627												
MYO15A	51168	broad.mit.edu	37	17	18077133	18077133	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:18077133G>A	uc010vxh.1	+	64	10727	c.10389G>A	c.(10387-10389)TCG>TCA	p.S3463S	MYO15A_uc010vxi.1_Silent_p.S727S|MYO15A_uc002gsl.2_Missense_Mutation_p.D496N|MYO15A_uc010vxm.1_Intron|MYO15A_uc010cpv.2_Intron	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3463	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					AGATCCAGTCGACGCGGACCC	0.637												
LLGL1	3996	broad.mit.edu	37	17	18140983	18140983	+	Silent	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:18140983T>A	uc002gsp.2	+	14	1861	c.1800T>A	c.(1798-1800)GCT>GCA	p.A600A		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	600					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					CGCCAGCTGCTGTAACCGCTG	0.667												
FLII	2314	broad.mit.edu	37	17	18151054	18151054	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:18151054T>C	uc002gsr.1	-	20	2455	c.2404A>G	c.(2404-2406)AAG>GAG	p.K802E	FLII_uc002gsq.1_Missense_Mutation_p.K673E|FLII_uc010cpy.1_Missense_Mutation_p.K791E|FLII_uc010vxn.1_Missense_Mutation_p.K771E|FLII_uc010vxo.1_Missense_Mutation_p.K747E|FLII_uc002gss.1_Missense_Mutation_p.K801E	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	802	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					TGACCCAGCTTGAGGGCGGCA	0.687												
FLII	2314	broad.mit.edu	37	17	18157847	18157847	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:18157847T>C	uc002gsr.1	-	6	614	c.563A>G	c.(562-564)CAT>CGT	p.H188R	FLII_uc002gsq.1_Missense_Mutation_p.H60R|FLII_uc010cpy.1_Missense_Mutation_p.H177R|FLII_uc010vxn.1_Missense_Mutation_p.H157R|FLII_uc010vxo.1_Intron|FLII_uc002gss.1_Missense_Mutation_p.H188R|uc010vxp.1_5'Flank	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	188	Interaction with LRRFIP1 and LRRFIP2.|LRR 8.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					GAGCTGTGCATGCAGCAGGGG	0.677												
SLC5A10	125206	broad.mit.edu	37	17	18874389	18874389	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:18874389G>T	uc002guu.1	+	8	745	c.704G>T	c.(703-705)AGG>ATG	p.R235M	SLC5A10_uc002gur.1_Missense_Mutation_p.R152M|SLC5A10_uc002gut.1_Missense_Mutation_p.R235M|SLC5A10_uc002guv.1_Missense_Mutation_p.R208M|SLC5A10_uc010vyl.1_Missense_Mutation_p.R235M|FAM83G_uc002guw.2_3'UTR	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	235	Extracellular (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						ATTCCCTCCAGGACCATTGCC	0.617												
TNFAIP1	7126	broad.mit.edu	37	17	26669397	26669397	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:26669397G>A	uc002hax.1	+	6	662	c.643G>A	c.(643-645)GGC>AGC	p.G215S	TNFAIP1_uc002hay.2_Missense_Mutation_p.G215S|TNFAIP1_uc010waf.1_Missense_Mutation_p.G111S	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	215					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)		GTCCTTTTATGGCCAGGGCCG	0.567												
RAB34	83871	broad.mit.edu	37	17	27042858	27042858	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:27042858C>A	uc002hce.2	-	4	898	c.274G>T	c.(274-276)GAA>TAA	p.E92*	RAB34_uc002hcg.2_Nonsense_Mutation_p.E92*|RAB34_uc002hcf.2_Nonsense_Mutation_p.E93*|RAB34_uc010was.1_Nonsense_Mutation_p.E149*|RAB34_uc010wat.1_Nonsense_Mutation_p.E149*|RAB34_uc002hch.2_Nonsense_Mutation_p.E92*|RAB34_uc010wau.1_Nonsense_Mutation_p.E70*|RAB34_uc010wav.1_Nonsense_Mutation_p.E150*	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	92					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					TCAAATCGTTCCATCTCGAAG	0.537												
TAOK1	57551	broad.mit.edu	37	17	27869900	27869900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:27869900C>T	uc002hdz.1	+	20	3060	c.2866C>T	c.(2866-2868)CGA>TGA	p.R956*	TAOK1_uc010wbe.1_Nonsense_Mutation_p.R808*|TAOK1_uc010wbf.1_Nonsense_Mutation_p.R956*	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	956					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			AGGGGTACCTCGAGGTAGCAG	0.632												
SLFN11	91607	broad.mit.edu	37	17	33689788	33689788	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:33689788A>G	uc010ctp.2	-	4	1481	c.1039T>C	c.(1039-1041)TGG>CGG	p.W347R	SLFN11_uc010ctq.2_Missense_Mutation_p.W347R|SLFN11_uc002hjh.3_Missense_Mutation_p.W347R|SLFN11_uc002hjg.3_Missense_Mutation_p.W347R|SLFN11_uc010ctr.2_Missense_Mutation_p.W347R	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	347						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCCTACCCATTTCTCGGTT	0.483												
GAS2L2	246176	broad.mit.edu	37	17	34074093	34074093	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:34074093G>A	uc002hjv.1	-	5	1055	c.1027C>T	c.(1027-1029)CCC>TCC	p.P343S		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	343					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCCTGCGGGGTCTGGGGGAG	0.627												
RDM1	201299	broad.mit.edu	37	17	34251627	34251627	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:34251627A>G	uc002hkh.2	-	4	598	c.549T>C	c.(547-549)CCT>CCC	p.P183P	RDM1_uc010cty.2_Intron|RDM1_uc010ctz.2_Intron|RDM1_uc010cua.2_Silent_p.P160P|RDM1_uc002hkg.3_Silent_p.P160P|RDM1_uc010cub.2_Intron|RDM1_uc010cud.2_Silent_p.P183P|RDM1_uc010cuf.2_Intron|RDM1_uc010cue.2_Intron|RDM1_uc010cug.2_Intron|RDM1_uc010cuc.2_Intron|RDM1_uc010wco.1_Intron|RDM1_uc010wcp.1_Silent_p.P160P|RDM1_uc002hki.2_Silent_p.P183P	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	RAD52 motif 1 isoform 1	183					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTTATCCATAGGCTCCTCCA	0.478								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
GSDMB	55876	broad.mit.edu	37	17	38066132	38066132	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:38066132C>T	uc010cwj.2	-	3	458	c.453G>A	c.(451-453)ACG>ACA	p.T151T	GSDMB_uc010cwi.2_5'Flank|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_Intron|GSDMB_uc002htg.2_Silent_p.T151T|GSDMB_uc002hth.2_Silent_p.T151T|GSDMB_uc010wem.1_Silent_p.T151T	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN	gasdermin B isoform 1	151						cytoplasm				breast(1)|pancreas(1)	2						GGTTTTCTCTCGTATTAATTG	0.468												
PSMD3	5709	broad.mit.edu	37	17	38146397	38146397	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:38146397A>G	uc002htn.1	+	6	1092	c.928A>G	c.(928-930)ACC>GCC	p.T310A	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.T211A	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	310					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 ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					GAGAACGATGACCAACGCCCT	0.527												
CASC3	22794	broad.mit.edu	37	17	38324130	38324130	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:38324130A>G	uc010cwt.1	+	10	1974	c.1679A>G	c.(1678-1680)CAT>CGT	p.H560R	CASC3_uc002hue.2_Missense_Mutation_p.H560R	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	560	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						ATCTATACCCATGGTGACAGC	0.517												
KRT10	3858	broad.mit.edu	37	17	38978389	38978389	+	Missense_Mutation	SNP	A	A	G	rs58901407		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:38978389A>G	uc002hvi.2	-	1	475	c.449T>C	c.(448-450)ATG>ACG	p.M150T	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	150	Coil 1A.|Rod.|Gly-rich.		M -> T (in a patient with epidermal nevi hyperkeratotic type due to genetic mosaicism).		epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				CAGATTCTGCATGGTTACTTT	0.368												
KRT33B	3884	broad.mit.edu	37	17	39520151	39520151	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:39520151G>T	uc002hwl.2	-	7	1197	c.1152C>A	c.(1150-1152)TCC>TCA	p.S384S		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	384	Tail.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				TGGTGACACAGGATCCAATGG	0.542												
KRT16	3868	broad.mit.edu	37	17	39767417	39767417	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:39767417G>A	uc002hxg.3	-	4	976	c.837C>T	c.(835-837)GGC>GGT	p.G279G	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	279	Linker 12.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				TCAGGTCCACGCCAGGTGCAG	0.587												
TTC25	83538	broad.mit.edu	37	17	40093140	40093140	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:40093140C>T	uc002hyj.3	+	5	674	c.585C>T	c.(583-585)TAC>TAT	p.Y195Y	TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Silent_p.Y195Y	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	195						cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GGGAGCTCTACGTGGACAAAG	0.542												
PLEKHH3	79990	broad.mit.edu	37	17	40828492	40828492	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:40828492G>A	uc002iau.2	-	1	557	c.90C>T	c.(88-90)AGC>AGT	p.S30S	PLEKHH3_uc002iat.1_5'Flank|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_5'UTR|PLEKHH3_uc002iaw.2_Silent_p.S30S	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	30					signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCCCGTCCCCGCTAAGCTCGC	0.687												
CNTNAP1	8506	broad.mit.edu	37	17	40839807	40839807	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:40839807G>A	uc002iay.2	+	8	1330	c.1114G>A	c.(1114-1116)GTT>ATT	p.V372I	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	372	Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCACAACTTCGTTCAAGTGCC	0.602												
BRCA1	672	broad.mit.edu	37	17	41226527	41226527	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:41226527G>A	uc002icq.2	-	14	4728	c.4496C>T	c.(4495-4497)TCT>TTT	p.S1499F	BRCA1_uc010whp.1_Missense_Mutation_p.S348F|BRCA1_uc010whl.1_Missense_Mutation_p.S395F|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.S1428F|BRCA1_uc002icu.2_Missense_Mutation_p.S395F|BRCA1_uc010cyx.2_Missense_Mutation_p.S1452F|BRCA1_uc002ict.2_Missense_Mutation_p.S1520F|BRCA1_uc010whn.1_5'UTR|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.S228F|BRCA1_uc002idc.1_Missense_Mutation_p.S395F|BRCA1_uc010whr.1_Missense_Mutation_p.S349F	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1499					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGCATTTAGAAGGGGATGA	0.423			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)		
NBR1	4077	broad.mit.edu	37	17	41345126	41345126	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:41345126C>A	uc010czd.2	+	11	1229	c.1089C>A	c.(1087-1089)CCC>CCA	p.P363P	NBR1_uc010diz.2_Silent_p.P363P|NBR1_uc010whu.1_Silent_p.P363P|NBR1_uc010whv.1_Silent_p.P363P|NBR1_uc010whw.1_Silent_p.P342P|NBR1_uc010whx.1_Silent_p.P172P	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	363					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CTTTGCAGCCCTGTACCTCCG	0.478												
DBF4B	80174	broad.mit.edu	37	17	42811492	42811492	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:42811492G>A	uc002ihf.2	+	7	804	c.591G>A	c.(589-591)GCG>GCA	p.A197A	DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_Silent_p.A11A|DBF4B_uc010wjc.1_Silent_p.A181A	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	197					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				TGTCTCTTGCGTCTTTATGTG	0.458												
CRHR1	1394	broad.mit.edu	37	17	43907871	43907871	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:43907871C>T	uc010dap.2	+	8	996	c.731C>T	c.(730-732)ACA>ATA	p.T244I	CRHR1_uc010wjx.1_Missense_Mutation_p.T40I|CRHR1_uc002ijp.2_Missense_Mutation_p.T114I|CRHR1_uc002ijm.2_Missense_Mutation_p.T215I|CRHR1_uc002ijn.2_Missense_Mutation_p.T175I|CRHR1_uc010dar.2_Missense_Mutation_p.T215I|CRHR1_uc010dao.2_Missense_Mutation_p.T114I|CRHR1_uc010daq.2_Missense_Mutation_p.T40I	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	244	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TACCTGCACACAGCCATCGTG	0.607												
KIAA1267	284058	broad.mit.edu	37	17	44249250	44249250	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:44249250A>G	uc002ikb.2	-	1	345	c.260T>C	c.(259-261)GTA>GCA	p.V87A	KIAA1267_uc002ikc.2_Missense_Mutation_p.V87A|KIAA1267_uc002ikd.2_Missense_Mutation_p.V87A|KIAA1267_uc010dav.2_Missense_Mutation_p.V87A	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	87						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				AACAGATGTTACATCAGAGCA	0.458												
IGF2BP1	10642	broad.mit.edu	37	17	47123659	47123659	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:47123659T>C	uc002iom.2	+	14	1899	c.1565T>C	c.(1564-1566)GTA>GCA	p.V522A	IGF2BP1_uc010dbj.2_Missense_Mutation_p.V383A	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	522	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|KH 4.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						GCTGAGGTGGTAGTACCAAGA	0.542												
ABCC3	8714	broad.mit.edu	37	17	48750362	48750362	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:48750362C>T	uc002isl.2	+	18	2352	c.2272C>T	c.(2272-2274)CGG>TGG	p.R758W		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	758	ABC transporter 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCAGCGGCAGCGGGTCAGTCT	0.587												
AKAP1	8165	broad.mit.edu	37	17	55189188	55189188	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:55189188G>A	uc002iux.2	+	4	2109	c.1878G>A	c.(1876-1878)CAG>CAA	p.Q626Q	AKAP1_uc010wnl.1_Silent_p.Q626Q|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Silent_p.Q626Q	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	626	KH.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					TTGGCAAGCAGGGGCGCTATG	0.483												
LPO	4025	broad.mit.edu	37	17	56344853	56344853	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:56344853G>A	uc002ivt.2	+	12	2153	c.1837G>A	c.(1837-1839)GCC>ACC	p.A613T	LPO_uc010wns.1_Missense_Mutation_p.A554T|LPO_uc010dcp.2_Missense_Mutation_p.A530T|LPO_uc010dcq.2_Missense_Mutation_p.A284T|LPO_uc010dcr.2_Missense_Mutation_p.A176T	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	613					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						CTGGATAGGGGCCATTGCTGA	0.577												
C17orf71	55181	broad.mit.edu	37	17	57289053	57289053	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:57289053C>T	uc002ixi.2	+	1	1683	c.1641C>T	c.(1639-1641)TAC>TAT	p.Y547Y		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	547					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TTCACAAATACGCCATGCAGT	0.438												
RNFT1	51136	broad.mit.edu	37	17	58040355	58040355	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:58040355C>T	uc002iya.2	-	2	440	c.347G>A	c.(346-348)CGG>CAG	p.R116Q	uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.R116Q|RNFT1_uc002iyd.3_Missense_Mutation_p.R116Q	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	PTD016 protein	116						integral to membrane	zinc ion binding				0	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			GGAGTGACCCCGTAAGCGACT	0.468												
USP32	84669	broad.mit.edu	37	17	58259002	58259002	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:58259002G>A	uc002iyo.1	-	32	4517	c.4231C>T	c.(4231-4233)CTG>TTG	p.L1411L	USP32_uc002iyn.1_Silent_p.L1081L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1411					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATCTGGGGCAGCCGGAGCCTC	0.512												
CD79B	974	broad.mit.edu	37	17	62007589	62007589	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:62007589T>C	uc002jdq.1	-	3	358	c.275A>G	c.(274-276)GAA>GGA	p.E92G	CD79B_uc002jdo.1_Missense_Mutation_p.E66G|CD79B_uc002jdp.1_Missense_Mutation_p.E93G|CD79B_uc002jdr.1_Intron	NM_000626	NP_000617	P40259	CD79B_HUMAN	CD79B antigen isoform 1 precursor	92	Extracellular (Potential).|Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity				0						GCGGCCCTTTTCCAGCTTCAG	0.547			Mis|O		DLBCL							
NOL11	25926	broad.mit.edu	37	17	65733740	65733740	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:65733740A>C	uc002jgd.1	+	12	1338	c.1335A>C	c.(1333-1335)AAA>AAC	p.K445N	NOL11_uc010wql.1_Missense_Mutation_p.K263N|NOL11_uc010deu.1_Missense_Mutation_p.K40N	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	445						nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAGGTGTAAAGCAGAACCAT	0.443												
SLC16A6	9120	broad.mit.edu	37	17	66267454	66267454	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:66267454G>A	uc002jgz.1	-	5	1035	c.847C>T	c.(847-849)CTA>TTA	p.L283L	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.L283L	NM_004694	NP_004685	O15403	MOT7_HUMAN	solute carrier family 16, member 6	283	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity				0	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AAGTCTAATAGCGGGGCTTTC	0.458												
ABCA10	10349	broad.mit.edu	37	17	67152020	67152020	+	Missense_Mutation	SNP	C	C	T	rs150472849	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:67152020C>T	uc010dfa.1	-	30	4381	c.3502G>A	c.(3502-3504)GAA>AAA	p.E1168K	ABCA10_uc010wqs.1_Missense_Mutation_p.E160K|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1168					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TCTTCTTCTTCGGGCTCTTCC	0.423												
ABCA5	23461	broad.mit.edu	37	17	67298973	67298973	+	Silent	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:67298973A>C	uc002jif.2	-	7	2223	c.1005T>G	c.(1003-1005)ACT>ACG	p.T335T	ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.T335T|ABCA5_uc002jih.2_Silent_p.T335T|ABCA5_uc010dfe.2_Silent_p.T335T	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	335	Helical; (Potential).				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					CAAAAGCCACAGTAACAAAAA	0.313												
ABCA5	23461	broad.mit.edu	37	17	67305446	67305446	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:67305446A>G	uc002jif.2	-	3	1644	c.426T>C	c.(424-426)TTT>TTC	p.F142F	ABCA5_uc002jig.2_Silent_p.F142F|ABCA5_uc002jih.2_Silent_p.F142F|ABCA5_uc010dfe.2_Silent_p.F142F	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	142					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					TCATATCAGGAAAAAAACGAA	0.343												
SDK2	54549	broad.mit.edu	37	17	71386498	71386498	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:71386498G>A	uc010dfm.2	-	29	4120	c.4120C>T	c.(4120-4122)CGC>TGC	p.R1374C	SDK2_uc002jjt.3_Missense_Mutation_p.R533C|SDK2_uc010dfn.2_Missense_Mutation_p.R1053C	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1374	Fibronectin type-III 8.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						GCCGTGATGCGGAACAGGTAG	0.672												
KIF19	124602	broad.mit.edu	37	17	72345358	72345358	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:72345358C>T	uc002jkm.3	+	10	1221	c.1083C>T	c.(1081-1083)ATC>ATT	p.I361I	KIF19_uc002jkj.2_Silent_p.I361I|KIF19_uc002jkk.2_Silent_p.I319I|KIF19_uc002jkl.2_Silent_p.I319I	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	361	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						CCTACCACATCGCCCAGTACA	0.647												
KIF19	124602	broad.mit.edu	37	17	72346664	72346664	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:72346664C>T	uc002jkm.3	+	11	1476	c.1338C>T	c.(1336-1338)CGC>CGT	p.R446R	KIF19_uc002jkj.2_Silent_p.R446R|KIF19_uc002jkk.2_Silent_p.R404R|KIF19_uc002jkl.2_Silent_p.R404R	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	446	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						TGGAGAACCGCGCCATGGAGG	0.672												
FDXR	2232	broad.mit.edu	37	17	72860170	72860170	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:72860170C>T	uc002jly.2	-	10	1109	c.1022G>A	c.(1021-1023)CGT>CAT	p.R341H	FDXR_uc010wri.1_Missense_Mutation_p.R289H|FDXR_uc010wrj.1_Missense_Mutation_p.R339H|FDXR_uc002jlw.2_Missense_Mutation_p.R98H|FDXR_uc002jlx.2_Missense_Mutation_p.R347H|FDXR_uc002jmc.2_Missense_Mutation_p.R313H|FDXR_uc010wrk.1_Missense_Mutation_p.R372H|FDXR_uc010wrl.1_Missense_Mutation_p.R384H|FDXR_uc002jma.2_Missense_Mutation_p.R342H|FDXR_uc010wrm.1_Missense_Mutation_p.R301H|FDXR_uc002jlz.2_Missense_Mutation_p.R333H|FDXR_uc002jmb.2_Intron	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	341					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGCACTGCACGGGTGGCCTC	0.617												
NUP85	79902	broad.mit.edu	37	17	73208107	73208107	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:73208107A>T	uc002jng.1	+	4	571	c.311A>T	c.(310-312)AAC>ATC	p.N104I	NUP85_uc010dgd.1_Missense_Mutation_p.N104I|NUP85_uc010wrv.1_Missense_Mutation_p.N58I	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	104					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GTGAGTAAAAACTACCGATCA	0.199												
LLGL2	3993	broad.mit.edu	37	17	73554653	73554653	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:73554653G>T	uc002joh.2	+	5	470	c.316G>T	c.(316-318)GGC>TGC	p.G106C	LLGL2_uc002jog.1_Missense_Mutation_p.G106C|LLGL2_uc010dgf.1_Missense_Mutation_p.G106C|LLGL2_uc002joi.2_Missense_Mutation_p.G106C|LLGL2_uc010dgg.1_Missense_Mutation_p.G106C|LLGL2_uc002joj.2_Missense_Mutation_p.G95C	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	106	WD 2.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAAGGTCAAGGGCGGGGCATC	0.632												
RECQL5	9400	broad.mit.edu	37	17	73625168	73625168	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:73625168C>T	uc010dgl.2	-	16	2491	c.2335G>A	c.(2335-2337)GCA>ACA	p.A779T	RECQL5_uc010dgk.2_Missense_Mutation_p.A752T|RECQL5_uc002jot.3_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	779					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	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)			GGGGCTGATGCCAGCAGAGCT	0.632								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
ITGB4	3691	broad.mit.edu	37	17	73736497	73736497	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:73736497T>C	uc002jpg.2	+	21	2692	c.2505T>C	c.(2503-2505)CCT>CCC	p.P835P	ITGB4_uc002jph.2_Silent_p.P835P|ITGB4_uc010dgo.2_Silent_p.P835P|ITGB4_uc002jpi.3_Silent_p.P835P|ITGB4_uc010dgp.1_Silent_p.P835P|ITGB4_uc002jpj.2_Silent_p.P835P	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	835	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGAAGCCTGACACTCGGG	0.652												
MRPL38	64978	broad.mit.edu	37	17	73894995	73894995	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:73894995C>T	uc010wso.1	-	9	1304	c.1079G>A	c.(1078-1080)CGG>CAG	p.R360Q	FBF1_uc002jqa.1_RNA|TRIM65_uc002jpx.2_5'Flank|MRPL38_uc002jpz.1_RNA	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38 precursor	360						actin cytoskeleton|mitochondrion|ribosome				pancreas(1)	1			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGGGCTGCCGGTGGGGGAA	0.617												
SEC14L1	6397	broad.mit.edu	37	17	75209468	75209468	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:75209468G>A	uc002jto.2	+	16	2203	c.1936G>A	c.(1936-1938)GCC>ACC	p.A646T	SEC14L1_uc010dhc.2_Missense_Mutation_p.A646T|SEC14L1_uc010wth.1_Missense_Mutation_p.A646T|SEC14L1_uc002jtm.2_Missense_Mutation_p.A646T|SEC14L1_uc010wti.1_Missense_Mutation_p.A612T|SEC14L1_uc010wtj.1_Missense_Mutation_p.R134H|SEC14L1_uc002jtr.2_Missense_Mutation_p.A40T	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	646	GOLD.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						TGCGTGCGCCGCCAGCAGCCT	0.597												
TNRC6C	57690	broad.mit.edu	37	17	76047111	76047111	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:76047111G>T	uc002jud.2	+	4	2568	c.1968G>T	c.(1966-1968)GGG>GGT	p.G656G	TNRC6C_uc002juf.2_Silent_p.G656G|TNRC6C_uc002jue.2_Silent_p.G656G	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	656	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAAACTGGGGGGAGACTTTAA	0.512												
RPTOR	57521	broad.mit.edu	37	17	78857713	78857713	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:78857713G>A	uc002jyt.1	+	16	2588	c.1783G>A	c.(1783-1785)GGC>AGC	p.G595S	RPTOR_uc010wug.1_Intron	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	595					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GAGGTGGTGCGGCGTGAGGGA	0.662												
RPTOR	57521	broad.mit.edu	37	17	78899222	78899222	+	Missense_Mutation	SNP	C	C	T	rs150835528		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:78899222C>T	uc002jyt.1	+	24	3666	c.2861C>T	c.(2860-2862)ACG>ATG	p.T954M	RPTOR_uc010wug.1_Missense_Mutation_p.T796M	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	954					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						ATCTCCGCCACGGTGCAGACG	0.582												
FASN	2194	broad.mit.edu	37	17	80038668	80038668	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:80038668C>T	uc002kdu.2	-	39	6843	c.6726G>A	c.(6724-6726)CGG>CGA	p.R2242R	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2242	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGAACAGGGGCCGCTCCGAGC	0.677												
CCDC57	284001	broad.mit.edu	37	17	80146227	80146227	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:80146227A>G	uc002kdz.1	-	8	1275	c.920T>C	c.(919-921)GTG>GCG	p.V307A	CCDC57_uc002kdx.1_Missense_Mutation_p.V307A	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	307	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CAGCTGCTCCACGTGGGCTCC	0.652												
ARHGAP28	79822	broad.mit.edu	37	18	6876205	6876205	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:6876205A>T	uc010wzi.1	+	9	995	c.757A>T	c.(757-759)AAG>TAG	p.K253*	ARHGAP28_uc002knc.2_Nonsense_Mutation_p.K378*|ARHGAP28_uc002knd.2_Nonsense_Mutation_p.K271*|ARHGAP28_uc002kne.2_Nonsense_Mutation_p.K271*|ARHGAP28_uc002knf.2_Nonsense_Mutation_p.K262*			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	253					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				TGCTAAAGTCAAGGTACCGAA	0.388												
KIAA0802	23255	broad.mit.edu	37	18	8783624	8783624	+	Missense_Mutation	SNP	G	G	A	rs116313795	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:8783624G>A	uc002knr.2	+	6	656	c.514G>A	c.(514-516)GAG>AAG	p.E172K	KIAA0802_uc002knq.2_Missense_Mutation_p.E172K|KIAA0802_uc010dkw.1_Missense_Mutation_p.E10K	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	523	Potential.										0						GGAGAAGGACGAGCTGGAGCA	0.612												
KIAA0802	23255	broad.mit.edu	37	18	8784564	8784564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:8784564G>A	uc002knr.2	+	6	1596	c.1454G>A	c.(1453-1455)CGG>CAG	p.R485Q	KIAA0802_uc002knq.2_Missense_Mutation_p.R485Q|KIAA0802_uc010dkw.1_Missense_Mutation_p.R323Q	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	836											0						GCGGGGCTGCGGGGTGGTGCG	0.672												
LAMA3	3909	broad.mit.edu	37	18	21396419	21396419	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:21396419C>T	uc002kuq.2	+	18	2201	c.2115C>T	c.(2113-2115)TGC>TGT	p.C705C	LAMA3_uc002kur.2_Silent_p.C705C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	705	Domain V.|Laminin EGF-like 8.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGCCAGTGCCGAGAGCATG	0.557												
KLHL14	57565	broad.mit.edu	37	18	30350328	30350328	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:30350328T>C	uc002kxm.1	-	2	615	c.227A>G	c.(226-228)GAC>GGC	p.D76G		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	76	BTB.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCCCAGGCCGTCCTGGCCGCC	0.507												
ASXL3	80816	broad.mit.edu	37	18	31325872	31325872	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:31325872A>G	uc010dmg.1	+	12	6115	c.6060A>G	c.(6058-6060)CCA>CCG	p.P2020P	ASXL3_uc002kxq.2_Silent_p.P1727P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2020	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						cgccgccgccaccgcctcccc	0.274												
FHOD3	80206	broad.mit.edu	37	18	34298375	34298375	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:34298375G>A	uc002kzt.1	+	15	2635	c.2538G>A	c.(2536-2538)CCG>CCA	p.P846P	FHOD3_uc002kzs.1_Silent_p.P863P|FHOD3_uc010dmz.1_Silent_p.P578P|FHOD3_uc010dna.1_Silent_p.P166P	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	846	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACCCCCTCCGCCCCTGTTGG	0.627												
CELF4	56853	broad.mit.edu	37	18	34833888	34833888	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:34833888G>A	uc002lae.2	-	12	1743	c.1347C>T	c.(1345-1347)TTC>TTT	p.F449F	CELF4_uc010dnd.1_Silent_p.F447F|CELF4_uc002lag.2_Silent_p.F411F|CELF4_uc002laf.2_Silent_p.F443F	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	449	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						CCGGGTTGTCGAAGCTCACGA	0.478												
ST8SIA5	29906	broad.mit.edu	37	18	44336400	44336400	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:44336400G>A	uc002lcj.1	-	1	640	c.72C>T	c.(70-72)TGC>TGT	p.C24C	ST8SIA5_uc010xcy.1_Silent_p.C24C|ST8SIA5_uc010xcz.1_Silent_p.C24C|ST8SIA5_uc010dno.1_Silent_p.C24C	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	24	Helical; Signal-anchor for type II membrane protein; (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						AGGCAAAGGCGCAGATGAAGA	0.507												
MRO	83876	broad.mit.edu	37	18	48331614	48331614	+	Silent	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:48331614A>C	uc002lew.3	-	5	633	c.339T>G	c.(337-339)ACT>ACG	p.T113T	MRO_uc010xdn.1_Silent_p.T113T|MRO_uc010dpa.2_Silent_p.T127T|MRO_uc010dpb.2_Silent_p.T127T|MRO_uc010dpc.2_Silent_p.T113T|MRO_uc002lex.3_Silent_p.T113T	NM_031939	NP_114145	Q9BYG7	MSTRO_HUMAN	maestro isoform a	113						nucleolus	binding				0		Colorectal(6;0.0596)		Colorectal(21;0.082)		CGACGGTCAGAGTCTTCATAC	0.443												
ALPK2	115701	broad.mit.edu	37	18	56203904	56203904	+	Missense_Mutation	SNP	G	G	A	rs140868694	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:56203904G>A	uc002lhj.3	-	5	3729	c.3515C>T	c.(3514-3516)ACG>ATG	p.T1172M	ALPK2_uc002lhk.1_Missense_Mutation_p.T503M	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1172							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TGAGTGGGCCGTGGGCACCAA	0.577												
ZNF532	55205	broad.mit.edu	37	18	56586448	56586448	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:56586448C>T	uc002lho.2	+	4	1476	c.929C>T	c.(928-930)GCC>GTC	p.A310V	ZNF532_uc002lhp.2_Missense_Mutation_p.A308V|ZNF532_uc010xeg.1_Missense_Mutation_p.A308V|ZNF532_uc002lhr.2_Missense_Mutation_p.A308V|ZNF532_uc002lhs.2_Missense_Mutation_p.A308V	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AGTCCGAGAGCCGCTGACAAG	0.512												
SERPINB13	5275	broad.mit.edu	37	18	61260183	61260183	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:61260183C>A	uc002ljc.2	+	5	618	c.450C>A	c.(448-450)TCC>TCA	p.S150S	SERPINB13_uc002ljd.2_Translation_Start_Site|SERPINB13_uc010xep.1_Silent_p.S159S|SERPINB13_uc010xeq.1_Intron|SERPINB13_uc010xer.1_Intron	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	150					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1						AGATTAATTCCTGGGTTGAAA	0.284												
DOK6	220164	broad.mit.edu	37	18	67425053	67425053	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:67425053C>T	uc002lkl.2	+	7	990	c.800C>T	c.(799-801)GCG>GTG	p.A267V		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	267	DKFBH motif.						insulin receptor binding	p.A267V(1)		upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CCTCGCAGCGCGTACTGGCAT	0.418												
RTTN	25914	broad.mit.edu	37	18	67813014	67813014	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:67813014C>T	uc002lkp.2	-	18	2383	c.2315G>A	c.(2314-2316)CGT>CAT	p.R772H	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	772							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TGCTAGCGAACGGACCCTGAG	0.383												
RTTN	25914	broad.mit.edu	37	18	67817853	67817853	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:67817853G>A	uc002lkp.2	-	15	2114	c.2046C>T	c.(2044-2046)CCC>CCT	p.P682P	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	682							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CCTCACTTTCGGGCTCTTGAA	0.333												
ZNF236	7776	broad.mit.edu	37	18	74607130	74607130	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:74607130C>T	uc002lmi.2	+	10	1771	c.1573C>T	c.(1573-1575)CTG>TTG	p.L525L	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	525	C2H2-type 11.				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)		GAAGAGCACGCTGACAGCGCA	0.617												
ZNF236	7776	broad.mit.edu	37	18	74637264	74637264	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:74637264C>T	uc002lmi.2	+	22	3973	c.3775C>T	c.(3775-3777)CGT>TGT	p.R1259C	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1259	C2H2-type 25.				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)		TTGCGAGCTGCGTTTCCGTAC	0.537												
PARD6G	84552	broad.mit.edu	37	18	77917966	77917966	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:77917966G>A	uc002lny.2	-	3	985	c.819C>T	c.(817-819)ACC>ACT	p.T273T	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	273					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CGAAGCCCGCGGTGCCGTCCG	0.711												
HCN2	610	broad.mit.edu	37	19	613971	613971	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:613971C>T	uc002lpe.2	+	7	1998	c.1945C>T	c.(1945-1947)CGG>TGG	p.R649W		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	649	cAMP.|Cytoplasmic (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCATGATGCGGCGCGCCTT	0.731												
C19orf21	126353	broad.mit.edu	37	19	758640	758640	+	Missense_Mutation	SNP	G	G	A	rs141415846		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:758640G>A	uc002lpo.2	+	2	1777	c.1694G>A	c.(1693-1695)CGG>CAG	p.R565Q		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	565	Potential.							p.R565W(1)		upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAGGAGCGGAGAAATGCT	0.612												
NDUFS7	374291	broad.mit.edu	37	19	1395407	1395407	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:1395407G>A	uc002lse.3	+	8	605	c.562G>A	c.(562-564)GAG>AAG	p.E188K	NDUFS7_uc002lsf.2_3'UTR|NDUFS7_uc002lsh.2_3'UTR|NDUFS7_uc002lsg.2_3'UTR|uc002lsi.1_RNA	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	188					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	ACCTACGGCCGAGGCCCTGCT	0.612												
ATP8B3	148229	broad.mit.edu	37	19	1789491	1789491	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:1789491T>C	uc002ltw.2	-	23	2948	c.2714A>G	c.(2713-2715)AAG>AGG	p.K905R	ATP8B3_uc002ltv.2_Missense_Mutation_p.K868R|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	905	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		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)		CGCCTGGCACTTGGACGCCAG	0.687												
SCAMP4	113178	broad.mit.edu	37	19	1918180	1918180	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:1918180G>A	uc002luj.2	+	4	298	c.191G>A	c.(190-192)GGC>GAC	p.G64D	SCAMP4_uc002lui.1_Missense_Mutation_p.G64D|SCAMP4_uc002luk.2_Missense_Mutation_p.G64D|SCAMP4_uc010dss.2_Missense_Mutation_p.G20D	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	64	Helical; (Potential).				protein transport	integral to membrane					0		Ovarian(11;2.11e-07)|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)		TGGTGGATCGGCGGAGGCTCG	0.647												
JSRP1	126306	broad.mit.edu	37	19	2255261	2255261	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:2255261C>T	uc002lvi.1	-	1	88	c.53G>A	c.(52-54)TGC>TAC	p.C18Y	JSRP1_uc002lvj.1_Missense_Mutation_p.C18Y	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	18	Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				pancreas(1)	1				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)		CAGGGCCTGGCAGCTGCCCAG	0.682												
TMPRSS9	360200	broad.mit.edu	37	19	2405448	2405448	+	Silent	SNP	G	G	A	rs149559028	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:2405448G>A	uc010xgx.1	+	6	645	c.645G>A	c.(643-645)CCG>CCA	p.P215P	TMPRSS9_uc002lvv.1_Silent_p.P249P	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	215	Extracellular (Potential).|Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				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)		GGGAGTTTCCGTGGCAAGCCA	0.617												
NFIC	4782	broad.mit.edu	37	19	3381902	3381902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:3381902C>T	uc010xhi.1	+	2	285	c.223C>T	c.(223-225)CGG>TGG	p.R75W	NFIC_uc002lxo.2_Missense_Mutation_p.R66W|NFIC_uc010xhh.1_Missense_Mutation_p.R66W|NFIC_uc002lxp.2_Missense_Mutation_p.R75W|NFIC_uc010xhj.1_Missense_Mutation_p.R75W|NFIC_uc002lxq.1_Missense_Mutation_p.R27W	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	75	CTF/NF-I.				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GTGGGCGTCGCGGCTGCTGGC	0.652												
DAPK3	1613	broad.mit.edu	37	19	3959164	3959164	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:3959164C>T	uc002lzc.1	-	8	1393	c.1300G>A	c.(1300-1302)GTG>ATG	p.V434M	DAPK3_uc002lzb.1_Missense_Mutation_p.V171M|DAPK3_uc002lzd.1_Missense_Mutation_p.V434M	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	434	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCCTGCACGAAGCGCATC	0.721												
PIAS4	51588	broad.mit.edu	37	19	4013167	4013167	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:4013167C>T	uc002lzg.2	+	2	284	c.274C>T	c.(274-276)CGG>TGG	p.R92W		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	92					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTACGACCGGGCCGGCGC	0.647												
HDGFRP2	84717	broad.mit.edu	37	19	4498835	4498835	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:4498835C>A	uc002mao.2	+	13	1591	c.1498C>A	c.(1498-1500)CTA>ATA	p.L500I	HDGFRP2_uc002map.2_Missense_Mutation_p.L500I|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_5'Flank|HDGFRP2_uc002maq.1_5'Flank	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	500					transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						CCTGAATGCCCTAGAGGAGCT	0.637												
PTPRS	5802	broad.mit.edu	37	19	5244257	5244257	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:5244257C>T	uc002mbv.2	-	11	1459	c.1225G>A	c.(1225-1227)GGC>AGC	p.G409S	PTPRS_uc002mbu.1_Missense_Mutation_p.G396S|PTPRS_uc010xin.1_Missense_Mutation_p.G396S|PTPRS_uc002mbw.2_Missense_Mutation_p.G396S|PTPRS_uc002mbx.2_Missense_Mutation_p.G400S|PTPRS_uc002mby.2_Missense_Mutation_p.G396S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	409	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCCCCTGGCCGATGGAGTTG	0.667												
DUS3L	56931	broad.mit.edu	37	19	5785513	5785513	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:5785513G>A	uc002mdc.2	-	12	1858	c.1761C>T	c.(1759-1761)CCC>CCT	p.P587P	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Silent_p.P345P|DUS3L_uc010duk.2_Silent_p.P252P	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	587					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GCAGCCCCACGGGCACGTACC	0.721												
CAPS	828	broad.mit.edu	37	19	5915081	5915081	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:5915081G>A	uc002mdt.2	+	4	542	c.392G>A	c.(391-393)CGC>CAC	p.R131H	CAPS_uc002mdu.2_Intron	NM_004058	NP_004049	Q13938	CAYP1_HUMAN	calcyphosine isoform a	131					intracellular signal transduction	cytoplasm	calcium ion binding				0						CCCAAGGTGCGCAGTGGGGAG	0.692												
ACER1	125981	broad.mit.edu	37	19	6312428	6312428	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:6312428A>G	uc002mel.2	-	2	254	c.176T>C	c.(175-177)ATT>ACT	p.I59T		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	59	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	ceramidase activity				0						GACAACGTAAATGTAGCGGGA	0.562												
PNPLA6	10908	broad.mit.edu	37	19	7623981	7623981	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:7623981C>T	uc010xjq.1	+	30	3868	c.3673C>T	c.(3673-3675)CGC>TGC	p.R1225C	PNPLA6_uc002mgq.1_Missense_Mutation_p.R1177C|PNPLA6_uc010xjp.1_Missense_Mutation_p.R1150C|PNPLA6_uc002mgr.1_Missense_Mutation_p.R1177C|PNPLA6_uc002mgs.2_Missense_Mutation_p.R1215C|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1216	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						CGAGTACCTGCGCCCGCCCAT	0.582												
KIAA1543	57662	broad.mit.edu	37	19	7676704	7676704	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:7676704C>T	uc002mgv.3	+	11	1426	c.1325C>T	c.(1324-1326)CCG>CTG	p.P442L	KIAA1543_uc002mgu.3_Missense_Mutation_p.P469L|KIAA1543_uc002mgw.2_5'Flank	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	442	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CGTCCCGCGCCGGCCAGGACC	0.701												
EVI5L	115704	broad.mit.edu	37	19	7927323	7927323	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:7927323C>T	uc002min.2	+	16	1971	c.1817C>T	c.(1816-1818)GCG>GTG	p.A606V	EVI5L_uc010xjz.1_Missense_Mutation_p.A617V	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	606	Potential.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						GAGCGCGCGGCGCTGCAGGAG	0.672												
MYO1F	4542	broad.mit.edu	37	19	8620596	8620596	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:8620596C>T	uc002mkg.2	-	2	202	c.88G>A	c.(88-90)GAA>AAA	p.E30K	MYO1F_uc002mkh.2_Missense_Mutation_p.E30K|MYO1F_uc010xkf.1_Missense_Mutation_p.E30K	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	30	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						ATGGCGTCTTCGGTGATCTGG	0.617												
ADAMTS10	81794	broad.mit.edu	37	19	8670086	8670086	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:8670086C>T	uc002mkj.1	-	4	520	c.246G>A	c.(244-246)TCG>TCA	p.S82S	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	82					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GGGTGCTGGGCGAGGCCACTT	0.692												
MUC16	94025	broad.mit.edu	37	19	9068980	9068980	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:9068980C>T	uc002mkp.2	-	3	18670	c.18466G>A	c.(18466-18468)GCC>ACC	p.A6156T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6158	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTTTGTGTGGCGATGGTCTTG	0.507												
MUC16	94025	broad.mit.edu	37	19	9069065	9069065	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:9069065T>C	uc002mkp.2	-	3	18585	c.18381A>G	c.(18379-18381)TCA>TCG	p.S6127S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6129	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGGACTTTGTTGACTGAGCAG	0.493												
C19orf66	55337	broad.mit.edu	37	19	10200691	10200691	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:10200691G>A	uc002mmu.3	+	5	650	c.352G>A	c.(352-354)GTC>ATC	p.V118I	C19orf66_uc002mmv.3_Missense_Mutation_p.V118I|C19orf66_uc002mmw.3_Missense_Mutation_p.V67I	NM_018381	NP_060851	Q9NUL5	CS066_HUMAN	hypothetical protein LOC55337	118											0						CTGCGACCACGTCTGGTGGCG	0.587												
TYK2	7297	broad.mit.edu	37	19	10461637	10461637	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:10461637T>C	uc002moc.3	-	25	3815	c.3437A>G	c.(3436-3438)CAT>CGT	p.H1146R	TYK2_uc010dxe.2_Missense_Mutation_p.H961R	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1146	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CTTCATGAGATGATAGACCTA	0.537												
SMARCA4	6597	broad.mit.edu	37	19	11145661	11145661	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:11145661C>T	uc002mqf.3	+	29	4307	c.4023C>T	c.(4021-4023)GAC>GAT	p.D1341D	SMARCA4_uc010dxp.2_Silent_p.D1341D|SMARCA4_uc010dxo.2_Silent_p.D1341D|SMARCA4_uc010dxq.2_Silent_p.D1308D|SMARCA4_uc010dxr.2_Silent_p.D1308D|SMARCA4_uc002mqj.3_Silent_p.D1308D|SMARCA4_uc010dxs.2_Silent_p.D1308D|SMARCA4_uc010dxt.1_Silent_p.D528D|SMARCA4_uc002mqh.3_Silent_p.D431D|SMARCA4_uc002mqi.1_Silent_p.D511D	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1341					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			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)				TGGAGGAGGACGAGCTCCCCT	0.692			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
ZNF700	90592	broad.mit.edu	37	19	12061033	12061033	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:12061033T>C	uc002msu.2	+	4	2320	c.2194T>C	c.(2194-2196)TAT>CAT	p.Y732H	ZNF700_uc010xme.1_Missense_Mutation_p.Y750H|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAGAAGCCATATGAATGTAA	0.403												
ZNF433	163059	broad.mit.edu	37	19	12127030	12127030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:12127030G>A	uc002msy.1	-	4	823	c.652C>T	c.(652-654)CGA>TGA	p.R218*	uc002msx.1_Intron|ZNF433_uc002msz.1_Nonsense_Mutation_p.R183*	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	218	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTGTGAGTTCGTTTGTGGATA	0.403												
JUNB	3726	broad.mit.edu	37	19	12902621	12902621	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:12902621C>T	uc002mvc.2	+	1	312	c.36C>T	c.(34-36)GAC>GAT	p.D12D	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	12						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						TCTACCACGACGACTCATACA	0.662												
NACC1	112939	broad.mit.edu	37	19	13246114	13246114	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:13246114C>T	uc002mwm.2	+	2	261	c.93C>T	c.(91-93)GAC>GAT	p.D31D		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	31	BTB.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						TGTACTGTGACGTGTCAGTGG	0.622												
ZSWIM4	65249	broad.mit.edu	37	19	13941323	13941323	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:13941323G>A	uc002mxh.1	+	13	2618	c.2429G>A	c.(2428-2430)CGC>CAC	p.R810H	ZSWIM4_uc010xng.1_Missense_Mutation_p.R733H	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	810							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACTGTGGCCCGCTATATGGAG	0.701												
PODNL1	79883	broad.mit.edu	37	19	14044132	14044132	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:14044132C>T	uc002mxr.2	-	8	1199	c.925G>A	c.(925-927)GGG>AGG	p.G309R	PODNL1_uc010xni.1_Missense_Mutation_p.G227R|PODNL1_uc010xnj.1_Missense_Mutation_p.G307R|PODNL1_uc002mxs.2_Missense_Mutation_p.G218R	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	podocan-like 1 isoform 1	309	Leu-rich.|LRR 10.					proteinaceous extracellular matrix				central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CCACGCGCCCCGTGCAGCCGA	0.726												
SAMD1	90378	broad.mit.edu	37	19	14199317	14199317	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:14199317C>A	uc010xnl.1	-	7	1529	c.1529G>T	c.(1528-1530)GGG>GTG	p.G510V		NM_138352	NP_612361	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	510	SAM.					cytoplasm|extracellular region					0		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		CAGGGCTGGCCCGAGGCGGAT	0.582												
EMR2	30817	broad.mit.edu	37	19	14865776	14865776	+	Missense_Mutation	SNP	T	T	C	rs143149076	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:14865776T>C	uc002mzp.1	-	14	2036	c.1580A>G	c.(1579-1581)TAC>TGC	p.Y527C	EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Missense_Mutation_p.Y516C|EMR2_uc002mzq.1_Missense_Mutation_p.Y467C|EMR2_uc002mzr.1_Missense_Mutation_p.Y478C|EMR2_uc002mzs.1_Missense_Mutation_p.Y385C|EMR2_uc002mzt.1_Missense_Mutation_p.Y423C|EMR2_uc002mzu.1_Missense_Mutation_p.Y434C|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	527	Extracellular (Potential).|GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						CTGCACATCGTAGTGGGCCAT	0.428												
EPHX3	79852	broad.mit.edu	37	19	15342847	15342847	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:15342847C>T	uc002nap.2	-	1	385	c.176G>A	c.(175-177)CGT>CAT	p.R59H	EPHX3_uc002naq.2_Missense_Mutation_p.R59H	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	59						extracellular region	hydrolase activity				0						CGCGCTCCGACGGCGCCCGCA	0.736												
PGLYRP2	114770	broad.mit.edu	37	19	15580564	15580564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:15580564G>A	uc002nbf.3	-	4	1653	c.1520C>T	c.(1519-1521)GCG>GTG	p.A507V	PGLYRP2_uc002nbg.3_Missense_Mutation_p.A507V	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	507					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						GGCGCGCACCGCACAACTCGG	0.741												
CALR3	125972	broad.mit.edu	37	19	16595981	16595981	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:16595981C>T	uc002ned.2	-	4	548	c.485G>A	c.(484-486)AGG>AAG	p.R162K	MED26_uc002nee.2_Intron	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	162	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						TACCTTACACCTGATCAGTTT	0.303												
MED26	9441	broad.mit.edu	37	19	16687442	16687442	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:16687442C>T	uc002nen.1	-	3	1460	c.1199G>A	c.(1198-1200)CGA>CAA	p.R400Q	MED26_uc002nee.2_Intron	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	400					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						CGTATAGTCTCGAGGTCGGTA	0.587												
TMEM38A	79041	broad.mit.edu	37	19	16790893	16790893	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:16790893G>T	uc002nes.2	+	2	314	c.223G>T	c.(223-225)GAG>TAG	p.E75*		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	75	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3						GCTCCTTGGGGAGCCACTGAT	0.617												
ANKLE1	126549	broad.mit.edu	37	19	17396288	17396288	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:17396288G>A	uc002nga.2	+	7	1701	c.1425G>A	c.(1423-1425)GAG>GAA	p.E475E	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Silent_p.E471E|ANKLE1_uc010xpn.1_Silent_p.E503E|ANKLE1_uc002nfy.2_Silent_p.E438E|ANKLE1_uc002nfz.2_Silent_p.E181E	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	475						nuclear envelope					0						CCCCAGCTGAGCGCCTTCAGA	0.607												
GLT25D1	79709	broad.mit.edu	37	19	17679430	17679430	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:17679430C>T	uc002nhc.1	+	5	749	c.737C>T	c.(736-738)GCG>GTG	p.A246V	GLT25D1_uc010eax.1_Missense_Mutation_p.A14V	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	246					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0						CGGAAGGCGGCGTCCAGGAAC	0.602												
UNC13A	23025	broad.mit.edu	37	19	17756598	17756598	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:17756598G>A	uc002nhd.2	-	19	2505	c.2505C>T	c.(2503-2505)GAC>GAT	p.D835D		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	747	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						ATTTGATGTCGTCATCCTCGT	0.592												
CRTC1	23373	broad.mit.edu	37	19	18876267	18876267	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:18876267C>G	uc002nkb.3	+	9	1028	c.940C>G	c.(940-942)CTG>GTG	p.L314V	CRTC1_uc010ebv.2_Missense_Mutation_p.L330V|CRTC1_uc010ebw.2_Missense_Mutation_p.L179V|CRTC1_uc002nkc.3_Missense_Mutation_p.L179V	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	314	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						CGTCAGCCCCCTGTCCCTGAG	0.652												
CRTC1	23373	broad.mit.edu	37	19	18888054	18888054	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:18888054C>T	uc002nkb.3	+	14	1855	c.1767C>T	c.(1765-1767)TTC>TTT	p.F589F	CRTC1_uc010ebv.2_Silent_p.F605F|CRTC1_uc010ebw.2_Silent_p.F425F|CRTC1_uc002nkc.3_Silent_p.F287F	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	589					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						ACGTCAGCTTCGACTCCGACA	0.632												
ARMC6	93436	broad.mit.edu	37	19	19162662	19162662	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:19162662G>A	uc002nld.2	+	5	859	c.511G>A	c.(511-513)GAC>AAC	p.D171N	ARMC6_uc002nlc.2_Missense_Mutation_p.D146N|ARMC6_uc010xql.1_Missense_Mutation_p.D78N|ARMC6_uc002nle.2_Missense_Mutation_p.D146N|ARMC6_uc010xqm.1_Missense_Mutation_p.D171N	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	171							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TGGACAGCCAGACCTCCTGGA	0.622												
SLC25A42	284439	broad.mit.edu	37	19	19218784	19218784	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:19218784C>T	uc002nlf.1	+	7	730	c.579C>T	c.(577-579)ACC>ACT	p.T193T		NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	193	Helical; Name=4; (Potential).|Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TTATGCCCACCGTGCTGGGGG	0.552												
CILP2	148113	broad.mit.edu	37	19	19655029	19655029	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:19655029C>A	uc002nmv.3	+	8	1760	c.1675C>A	c.(1675-1677)CCG>ACG	p.P559T	CILP2_uc002nmw.3_Missense_Mutation_p.P565T	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	559						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GAAGAAAGCCCCGGTCATTTT	0.627												
ZNF430	80264	broad.mit.edu	37	19	21240479	21240479	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:21240479A>G	uc002npj.2	+	5	1475	c.1365A>G	c.(1363-1365)AAA>AAG	p.K455K	ZNF430_uc002npk.2_Silent_p.K454K	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						CTGGAGAGAAACCCTACAAAT	0.393												
ZNF254	9534	broad.mit.edu	37	19	24309953	24309953	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:24309953G>A	uc002nru.2	+	4	1285	c.1151G>A	c.(1150-1152)GGC>GAC	p.G384D	ZNF254_uc010xrk.1_Missense_Mutation_p.G299D	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	384	C2H2-type 7.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTAGAATGTGGCAAAGCTTTT	0.363												
C19orf12	83636	broad.mit.edu	37	19	30193764	30193764	+	Missense_Mutation	SNP	G	G	A	rs61750862		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:30193764G>A	uc002nsk.2	-	3	712	c.281C>T	c.(280-282)GCC>GTC	p.A94V	C19orf12_uc002nsj.2_Missense_Mutation_p.A105V|C19orf12_uc002nsl.2_3'UTR|C19orf12_uc002nsm.2_RNA	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	hypothetical protein LOC83636 isoform 2	94						integral to membrane					0	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CCTGATGATGGCTGCGGCTTC	0.612												
TSHZ3	57616	broad.mit.edu	37	19	31769082	31769082	+	Silent	SNP	G	G	A	rs144514621	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:31769082G>A	uc002nsy.3	-	2	1682	c.1617C>T	c.(1615-1617)AAC>AAT	p.N539N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	539					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TAGGAGTGCCGTTCTGGGCCT	0.547												
PEPD	5184	broad.mit.edu	37	19	33980942	33980942	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:33980942C>T	uc002nur.3	-	6	598	c.463G>A	c.(463-465)GGC>AGC	p.G155S	PEPD_uc010xrr.1_Missense_Mutation_p.G155S|PEPD_uc010xrs.1_Missense_Mutation_p.G91S	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	155					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			ovary(2)	2	Esophageal squamous(110;0.137)					CAGACACTGCCGCTGTCCGTG	0.652												
UBA2	10054	broad.mit.edu	37	19	34934770	34934770	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:34934770T>C	uc002nvk.2	+	7	673	c.603T>C	c.(601-603)GAT>GAC	p.D201D	UBA2_uc010xrx.1_Silent_p.D74D|UBA2_uc002nvl.2_Silent_p.D105D	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	201					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGGAAGAAGATGCTGATCAAG	0.308												
GRAMD1A	57655	broad.mit.edu	37	19	35517005	35517005	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:35517005C>T	uc010xse.1	+	20	2272	c.2135C>T	c.(2134-2136)CCC>CTC	p.P712L	GRAMD1A_uc002nxk.2_Missense_Mutation_p.P701L|GRAMD1A_uc002nxl.2_Missense_Mutation_p.P474L|GRAMD1A_uc010xsf.1_Missense_Mutation_p.P713L|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.P323L	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	712						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCAGACCCTCCCTTTGACACC	0.642												
FFAR2	2867	broad.mit.edu	37	19	35941299	35941299	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:35941299T>G	uc002nzg.2	+	2	763	c.683T>G	c.(682-684)CTG>CGG	p.L228R	FFAR2_uc010eea.2_Missense_Mutation_p.L228R	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	228	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTGGTGACGCTGCTCAATTTC	0.607												
ATP4A	495	broad.mit.edu	37	19	36050092	36050092	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:36050092A>C	uc002oal.1	-	8	1087	c.1058T>G	c.(1057-1059)GTC>GGC	p.V353G	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	353	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGACAGGCAGACCTGGGGAAG	0.647												
MLL4	9757	broad.mit.edu	37	19	36211209	36211209	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:36211209C>A	uc010eei.2	+	3	960	c.960C>A	c.(958-960)TCC>TCA	p.S320S		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	320					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACAATTGTCCTTGGGACTCG	0.552												
MLL4	9757	broad.mit.edu	37	19	36228041	36228041	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:36228041C>T	uc010eei.2	+	34	7427	c.7427C>T	c.(7426-7428)GCC>GTC	p.A2476V		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2476	FYR C-terminal.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCTTCCTGGCCGAGCAGCTC	0.622												
PRODH2	58510	broad.mit.edu	37	19	36297674	36297674	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:36297674G>T	uc002obx.1	-	7	983	c.965C>A	c.(964-966)CCT>CAT	p.P322H		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	322					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGAGAGCGCAGGGTTCAGTGA	0.672												
SIPA1L3	23094	broad.mit.edu	37	19	38572874	38572874	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:38572874C>T	uc002ohk.2	+	3	1178	c.669C>T	c.(667-669)AAC>AAT	p.N223N		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	223					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)			ACATCCTGAACGAGTTCCGCA	0.711												
SIPA1L3	23094	broad.mit.edu	37	19	38684402	38684402	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:38684402G>A	uc002ohk.2	+	18	5331	c.4822G>A	c.(4822-4824)GGC>AGC	p.G1608S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1608					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)			CGCCGGCAGCGGCTTTCCCGA	0.721												
SPINT2	10653	broad.mit.edu	37	19	38778555	38778555	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:38778555C>T	uc002ohr.1	+	3	648	c.317C>T	c.(316-318)GCG>GTG	p.A106V	SPINT2_uc002ohs.1_Missense_Mutation_p.A49V	NM_021102	NP_066925	O43291	SPIT2_HUMAN	serine protease inhibitor, Kunitz type, 2	106	Extracellular (Potential).				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity				0	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGAATGCAGCGGATTCCTCT	0.537												
GGN	199720	broad.mit.edu	37	19	38876364	38876364	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:38876364G>A	uc002oij.1	-	3	1673	c.1538C>T	c.(1537-1539)GCG>GTG	p.A513V	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.A430V	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	513	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gggtgcgggcgcggacacagg	0.249												
FAM98C	147965	broad.mit.edu	37	19	38899406	38899406	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:38899406G>A	uc002oin.1	+	8	953	c.934G>A	c.(934-936)GTT>ATT	p.V312I	FAM98C_uc002oio.1_Missense_Mutation_p.V230I|FAM98C_uc010xtz.1_Missense_Mutation_p.R178H	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	312										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TATGGGCAACGTTCCAGACCG	0.572												
RYR1	6261	broad.mit.edu	37	19	38994880	38994880	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:38994880G>A	uc002oit.2	+	50	8077	c.7947G>A	c.(7945-7947)GAG>GAA	p.E2649E	RYR1_uc002oiu.2_Silent_p.E2649E|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2649	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)	ACCACTATGAGCGCTGTTGGA	0.597												
RYR1	6261	broad.mit.edu	37	19	39018309	39018309	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:39018309G>A	uc002oit.2	+	73	10839	c.10709G>A	c.(10708-10710)CGC>CAC	p.R3570H	RYR1_uc002oiu.2_Missense_Mutation_p.R3565H|RYR1_uc002oiv.1_Missense_Mutation_p.R485H|RYR1_uc010xuf.1_Missense_Mutation_p.R490H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3570					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)	CCGTCTCTGCGCTGGCAGATG	0.647												
MAP4K1	11184	broad.mit.edu	37	19	39108034	39108034	+	Missense_Mutation	SNP	G	G	A	rs35079766		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:39108034G>A	uc002oix.1	-	3	316	c.208C>T	c.(208-210)CGG>TGG	p.R70W	MAP4K1_uc002oiy.1_Missense_Mutation_p.R70W|EIF3K_uc010xuh.1_5'Flank|EIF3K_uc002oiz.1_5'Flank|EIF3K_uc010xui.1_5'Flank	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	70	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGCGTGCCGGCAAGTTTTC	0.562												
MED29	55588	broad.mit.edu	37	19	39882043	39882043	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:39882043C>T	uc002olf.2	+	1	81	c.44C>T	c.(43-45)CCG>CTG	p.P15L	PAF1_uc002old.2_5'Flank|PAF1_uc002ole.1_5'Flank|PAF1_uc010xuv.1_5'Flank|MED29_uc010xuw.1_Missense_Mutation_p.P15L|MED29_uc010xux.1_RNA	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	mediator complex subunit 29	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			ovary(1)|pancreas(1)	2	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AACGCACTTCCGGCGGTCTAC	0.587												
FCGBP	8857	broad.mit.edu	37	19	40433949	40433949	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:40433949G>A	uc002omp.3	-	2	328	c.320C>T	c.(319-321)GCG>GTG	p.A107V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	107	IgGFc-binding.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GATCACCACCGCATGCTGGAA	0.567												
C19orf47	126526	broad.mit.edu	37	19	40828158	40828158	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:40828158C>A	uc002oni.3	-	9	901	c.900G>T	c.(898-900)CGG>CGT	p.R300R	C19orf47_uc002ong.2_Silent_p.R159R|C19orf47_uc002onh.2_Silent_p.R233R	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	300										ovary(1)|skin(1)	2			Lung(22;0.000636)			TGGCTGGGCCCCGTCCTAGCT	0.647												
PRX	57716	broad.mit.edu	37	19	40901573	40901573	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:40901573A>G	uc002onr.2	-	7	2955	c.2686T>C	c.(2686-2688)TTC>CTC	p.F896L	PRX_uc002onq.2_Missense_Mutation_p.F757L|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	896					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACTCGGAAGCCCACTTCC	0.612												
CCDC97	90324	broad.mit.edu	37	19	41822577	41822577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:41822577G>A	uc002oqg.2	+	2	457	c.335G>A	c.(334-336)CGC>CAC	p.R112H	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	112											0						GAGCGCTTCCGCACAGGCCTC	0.637												
CCDC97	90324	broad.mit.edu	37	19	41825583	41825583	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:41825583C>A	uc002oqg.2	+	3	729	c.607C>A	c.(607-609)CCA>ACA	p.P203T	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	203											0						TGCCCGCACCCCAACCCACCA	0.647												
CEACAM3	1084	broad.mit.edu	37	19	42301803	42301803	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:42301803A>C	uc002orn.1	+	2	423	c.347A>C	c.(346-348)GAC>GCC	p.D116A	CEACAM3_uc010eia.1_Missense_Mutation_p.D116A|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	116	Ig-like V-type.|Extracellular (Potential).					integral to membrane				skin(1)	1						ACCCAGAATGACATAGGATTC	0.458												
CD79A	973	broad.mit.edu	37	19	42383115	42383115	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:42383115C>T	uc002orv.2	+	2	320	c.135C>T	c.(133-135)AGC>AGT	p.S45S	CD79A_uc002oru.2_Silent_p.S45S	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	45	Ig-like C2-type.|Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3						TGATGGTGAGCCTGGGGGAAG	0.632			O|S		DLBCL							
ARHGEF1	9138	broad.mit.edu	37	19	42406803	42406803	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:42406803G>A	uc002orx.2	+	17	1727	c.1618G>A	c.(1618-1620)GTG>ATG	p.V540M	ARHGEF1_uc002ory.2_Missense_Mutation_p.V507M|ARHGEF1_uc002orz.2_Missense_Mutation_p.V378M|ARHGEF1_uc002osa.2_Missense_Mutation_p.V555M|ARHGEF1_uc002osb.2_Missense_Mutation_p.V522M|ARHGEF1_uc002osc.2_Missense_Mutation_p.V294M|ARHGEF1_uc002osd.2_Missense_Mutation_p.V199M|ARHGEF1_uc002ose.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	540	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTGTGCCTTCGTGCAGGTGAG	0.433												
ATP1A3	478	broad.mit.edu	37	19	42482399	42482399	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:42482399C>T	uc002osg.2	-	13	1864	c.1710G>A	c.(1708-1710)ACG>ACA	p.T570T	ATP1A3_uc010xwf.1_Silent_p.T581T|ATP1A3_uc010xwg.1_Silent_p.T540T|ATP1A3_uc010xwh.1_Silent_p.T583T|ATP1A3_uc002osh.2_Silent_p.T570T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	570	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						AGAGGTTGTCCGTGGTGAAGT	0.597												
PSG6	5675	broad.mit.edu	37	19	43420541	43420541	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:43420541C>T	uc002ovj.1	-	2	215	c.163G>A	c.(163-165)GTC>ATC	p.V55I	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.V55I|PSG6_uc002ovg.1_Missense_Mutation_p.V55I	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	55	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				AAATTGTGGACAAGTAGAAGA	0.443												
PSG2	5670	broad.mit.edu	37	19	43579535	43579535	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:43579535C>T	uc002ovr.2	-	3	773	c.680G>A	c.(679-681)CGC>CAC	p.R227H	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.R227H|PSG2_uc010eiq.1_Missense_Mutation_p.R227H|PSG2_uc002ovs.3_Missense_Mutation_p.R227H|PSG2_uc002ovt.3_Missense_Mutation_p.R227H	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	227	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				TGGGTCACTGCGGCTGGCACT	0.532												
ZNF224	7767	broad.mit.edu	37	19	44611445	44611445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:44611445G>A	uc002oyh.1	+	6	1434	c.1132G>A	c.(1132-1134)GGG>AGG	p.G378R	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	378	C2H2-type 8.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				TAAAGAGTGTGGGAAGAGCTT	0.423												
PPM1N	147699	broad.mit.edu	37	19	46002428	46002428	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:46002428T>C	uc002pce.2	+	1	698	c.698T>C	c.(697-699)TTG>TCG	p.L233S	RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_5'Flank	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	protein phosphatase 1B-like	233	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity				0						TCGCGAGCGTTGGGCGACTTT	0.721												
DMPK	1760	broad.mit.edu	37	19	46274895	46274895	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:46274895G>A	uc002pdd.1	-	11	2105	c.1561C>T	c.(1561-1563)CGG>TGG	p.R521W	SIX5_uc002pdb.2_5'Flank|SIX5_uc002pdc.2_5'Flank|DMPK_uc010xxs.1_Missense_Mutation_p.R422W|DMPK_uc002pde.1_Missense_Mutation_p.R516W|DMPK_uc002pdf.1_Missense_Mutation_p.R511W|DMPK_uc002pdg.1_Missense_Mutation_p.R506W|DMPK_uc002pdh.1_Missense_Mutation_p.R506W|DMPK_uc002pdi.1_Missense_Mutation_p.R537W|DMPK_uc010xxt.1_Missense_Mutation_p.R506W	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	521					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TCTAGGTCCCGGTTCCGAGCC	0.667												
PTGIR	5739	broad.mit.edu	37	19	47127183	47127183	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:47127183G>T	uc002pex.2	-	2	413	c.300C>A	c.(298-300)ACC>ACA	p.T100T		NM_000960	NP_000951	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	100	Helical; Name=3; (Potential).				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GGCCGAAGAAGGTCATGGCGA	0.701												
PRKD2	25865	broad.mit.edu	37	19	47201052	47201052	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:47201052G>A	uc002pfh.2	-	9	1519	c.1177C>T	c.(1177-1179)CGG>TGG	p.R393W	PRKD2_uc002pfe.2_5'Flank|PRKD2_uc002pff.2_5'Flank|PRKD2_uc002pfg.2_Missense_Mutation_p.R236W|PRKD2_uc002pfi.2_Missense_Mutation_p.R393W|PRKD2_uc002pfj.2_Missense_Mutation_p.R393W|PRKD2_uc010xye.1_Missense_Mutation_p.R393W|PRKD2_uc002pfk.2_Missense_Mutation_p.R236W	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	393					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CTGGATTTCCGCGTCGTGTGT	0.483												
ZC3H4	23211	broad.mit.edu	37	19	47570534	47570534	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:47570534G>A	uc002pga.3	-	15	3029	c.2991C>T	c.(2989-2991)CCC>CCT	p.P997P	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	997							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCGCGGGCACGGGGGGCACTG	0.736												
SLC8A2	6543	broad.mit.edu	37	19	47960734	47960734	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:47960734G>A	uc002pgx.2	-	3	1071	c.793C>T	c.(793-795)CGC>TGC	p.R265C	SLC8A2_uc010xyq.1_Missense_Mutation_p.R21C|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.R265C	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	265	Calmodulin-binding (By similarity).|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ATGCCGCTGCGTGGGTCGGTG	0.622												
ZNF114	163071	broad.mit.edu	37	19	48789695	48789695	+	Missense_Mutation	SNP	G	G	A	rs147536572		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:48789695G>A	uc002pil.1	+	6	1311	c.814G>A	c.(814-816)GCA>ACA	p.A272T	ZNF114_uc010elv.1_Missense_Mutation_p.A272T|ZNF114_uc002pim.1_Missense_Mutation_p.A272T|ZNF114_uc002pin.2_Missense_Mutation_p.A238T	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	zinc finger protein 114	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		GTTGTATACCGCAGAGACAAA	0.448												
KDELR1	10945	broad.mit.edu	37	19	48892969	48892969	+	Splice_Site	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:48892969C>T	uc002pjb.1	-	3	388	c.193_splice	c.e3-1	p.V65_splice	KDELR1_uc002pja.1_Splice_Site_p.V3_splice	NM_006801	NP_006792	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum						intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity				0		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TGTAGACCACCTGAGGAGGGG	0.552												
RPL18	6141	broad.mit.edu	37	19	49120017	49120017	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:49120017T>C	uc002pjq.1	-	4	296	c.263A>G	c.(262-264)GAT>GGT	p.D88G	RPL18_uc002pjp.1_Missense_Mutation_p.D36G|RPL18_uc010xzs.1_Missense_Mutation_p.D88G|SPHK2_uc002pjr.2_5'Flank|SPHK2_uc010xzt.1_5'Flank|SPHK2_uc002pjs.2_5'Flank	NM_000979	NP_000970	Q07020	RL18_HUMAN	ribosomal protein L18	88					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		CCGCACATCATCAGTTATGGT	0.488												
PPFIA3	8541	broad.mit.edu	37	19	49631308	49631308	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:49631308C>T	uc002pmr.2	+	2	510	c.178C>T	c.(178-180)CTG>TTG	p.L60L	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_5'Flank|PPFIA3_uc010yaj.1_5'Flank|PPFIA3_uc002pms.2_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	60	Potential.					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)		GCAGCTGCGGCTGCGCGAGCT	0.726												
PTOV1	53635	broad.mit.edu	37	19	50361197	50361197	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:50361197C>T	uc002pqf.1	+	8	1011	c.841C>T	c.(841-843)CTG>TTG	p.L281L	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.L249L|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	281	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CAAGAGGTGGCTGCCATCCCA	0.657												
NUP62	23636	broad.mit.edu	37	19	50412227	50412228	+	Missense_Mutation	DNP	TG	TG	CA			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:50412227_50412228TG>CA	uc002pqx.2	-	2	941_942	c.837_838CA>TG	c.(835-840)GCCACC>GCTGCC	p.T280A	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.T280A|NUP62_uc002pqz.2_Missense_Mutation_p.T280A|NUP62_uc002pra.2_Missense_Mutation_p.T280A|NUP62_uc002prb.2_Missense_Mutation_p.T280A|NUP62_uc002prc.2_Intron	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	280	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ctggtggtggtggcggtggcgg	0.46												
VRK3	51231	broad.mit.edu	37	19	50512565	50512565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:50512565G>A	uc002prg.2	-	4	315	c.217C>T	c.(217-219)CGA>TGA	p.R73*	VRK3_uc002prh.1_Nonsense_Mutation_p.R73*|VRK3_uc002pri.1_Intron|VRK3_uc010ens.2_Nonsense_Mutation_p.R73*|VRK3_uc010ybl.1_Intron|VRK3_uc010ybm.1_Intron|VRK3_uc002prj.1_Intron|VRK3_uc002prk.1_Nonsense_Mutation_p.R73*|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Nonsense_Mutation_p.R73*|VRK3_uc010ybn.1_Nonsense_Mutation_p.R73*	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	73						nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		AGGGATAATCGGGGAGAGGTG	0.468												
POLD1	5424	broad.mit.edu	37	19	50905959	50905959	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:50905959C>T	uc002psb.3	+	8	987	c.931C>T	c.(931-933)CGC>TGC	p.R311C	POLD1_uc002psc.3_Missense_Mutation_p.R311C|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R311C	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	311					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCGCCCTTGCGCGTGCTCAG	0.667								DNA_polymerases_(catalytic_subunits)				
MYBPC2	4606	broad.mit.edu	37	19	50954194	50954194	+	Splice_Site	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:50954194T>C	uc002psf.2	+	14	1630	c.1579_splice	c.e14+2	p.E527_splice		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACTTCCTGGGTGAGGATGCCC	0.632												
KLK4	9622	broad.mit.edu	37	19	51412062	51412062	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:51412062A>G	uc002pua.1	-	3	248	c.248T>C	c.(247-249)CTG>CCG	p.L83P	KLK4_uc002pty.1_Missense_Mutation_p.L34P|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'UTR	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	83	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AAGACTGTGCAGGCCCAGCCC	0.502												
KLK13	26085	broad.mit.edu	37	19	51561889	51561889	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:51561889C>T	uc002pvn.2	-	4	594	c.551G>A	c.(550-552)CGC>CAC	p.R184H	KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.R111H|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Missense_Mutation_p.R32H	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	184	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CTCATCTGAGCGAAGTTGGAT	0.488												
HAS1	3036	broad.mit.edu	37	19	52216727	52216727	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:52216727G>A	uc002pxo.1	-	5	1725	c.1690C>T	c.(1690-1692)CGG>TGG	p.R564W	HAS1_uc010epc.1_Missense_Mutation_p.R164W|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.R571W|HAS1_uc002pxp.1_Missense_Mutation_p.R563W	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	564	Extracellular (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CAAAGCCTCCGCACGCCCACC	0.721												
FPR1	2357	broad.mit.edu	37	19	52249490	52249490	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:52249490C>T	uc002pxq.2	-	2	853	c.758G>A	c.(757-759)TGC>TAC	p.C253Y		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	253	Helical; Name=6; (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGGGGACCAGCAGAGAAAAAA	0.483												
ZNF836	162962	broad.mit.edu	37	19	52660033	52660033	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:52660033C>T	uc010ydi.1	-	5	1277	c.903G>A	c.(901-903)CCG>CCA	p.P301P	ZNF836_uc010ydj.1_Silent_p.P301P	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACATTTGTACGGTTTCTCTC	0.388												
ZNF347	84671	broad.mit.edu	37	19	53645115	53645115	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:53645115A>T	uc002qbb.1	-	5	1035	c.966T>A	c.(964-966)TGT>TGA	p.C322*	ZNF347_uc010eql.1_Nonsense_Mutation_p.C323*|ZNF347_uc002qbc.1_Nonsense_Mutation_p.C323*	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	322	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		AGACCTTACCACACTCATTAC	0.393												
ZNF331	55422	broad.mit.edu	37	19	54081131	54081131	+	Silent	SNP	C	C	T	rs144369706	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54081131C>T	uc002qbx.1	+	7	2751	c.1317C>T	c.(1315-1317)TAC>TAT	p.Y439Y	ZNF331_uc002qby.1_Silent_p.Y439Y|ZNF331_uc002qbz.1_Silent_p.Y439Y|ZNF331_uc002qca.1_Silent_p.Y439Y|ZNF331_uc010eqr.1_Silent_p.Y439Y|ZNF331_uc002qcb.1_Silent_p.Y439Y|ZNF331_uc002qcc.1_Silent_p.Y439Y|ZNF331_uc002qcd.1_Silent_p.Y439Y	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	439	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		CGAAATCCTACGAATGTAAGG	0.473			T	?	follicular thyroid adenoma							
CACNG7	59284	broad.mit.edu	37	19	54418710	54418710	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54418710G>A	uc002qcr.1	+	3	390	c.375G>A	c.(373-375)CCG>CCA	p.P125P	CACNG7_uc010era.1_Silent_p.P125P	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	125					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ACATCCGCCCGCAGAGGACCA	0.572												
CACNG7	59284	broad.mit.edu	37	19	54444871	54444871	+	Splice_Site	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54444871T>C	uc002qcr.1	+	4	585	c.570_splice	c.e4+2	p.E190_splice	CACNG7_uc010era.1_Missense_Mutation_p.V191A	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTCAAAGAGGTGACGTCCGTG	0.433												
LENG1	79165	broad.mit.edu	37	19	54660546	54660546	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54660546C>T	uc002qdm.2	-	3	543	c.530G>A	c.(529-531)CGC>CAC	p.R177H		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	177										ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTTTCTGCTGCGACTGCCTTC	0.597												
MBOAT7	79143	broad.mit.edu	37	19	54677813	54677813	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54677813A>G	uc002qdq.2	-	9	1610	c.1344T>C	c.(1342-1344)GGT>GGC	p.G448G	TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Silent_p.G132G|MBOAT7_uc010yem.1_Silent_p.G430G|MBOAT7_uc002qdr.2_Silent_p.G448G|MBOAT7_uc002qds.2_Silent_p.G375G|MBOAT7_uc010yen.1_Silent_p.G375G	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	448	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCTGCCCCCACCTAAAGCCA	0.662												
LILRA6	79168	broad.mit.edu	37	19	54744364	54744364	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54744364C>A	uc002qeu.1	-	6	1168	c.1044G>T	c.(1042-1044)CGG>CGT	p.R348R	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.R348R|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.R348R|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.R348R|LILRA6_uc010yeq.1_Silent_p.R348R|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.R209R	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	348	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane	receptor activity			skin(2)	2	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAAAATAACCCCGTGACTGAC	0.552												
TTYH1	57348	broad.mit.edu	37	19	54947281	54947281	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:54947281G>A	uc002qfq.2	+	13	1417	c.1325G>A	c.(1324-1326)CGC>CAC	p.R442H	TTYH1_uc010yey.1_3'UTR|TTYH1_uc002qfr.2_Missense_Mutation_p.A427T|TTYH1_uc002qft.2_Missense_Mutation_p.R443H	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	442	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)		GAATCCAAGCGCTTTGTGCAG	0.547												
NLRP7	199713	broad.mit.edu	37	19	55451098	55451098	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:55451098G>A	uc002qih.3	-	4	1165	c.1089C>T	c.(1087-1089)CCC>CCT	p.P363P	NLRP7_uc002qig.3_Silent_p.P363P|NLRP7_uc002qii.3_Silent_p.P363P|NLRP7_uc010esk.2_Silent_p.P363P|NLRP7_uc010esl.2_Silent_p.P391P	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	363	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		AGCACACCGCGGGGGCCGAGC	0.632												
RDH13	112724	broad.mit.edu	37	19	55568112	55568112	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:55568112G>A	uc002qio.3	-	3	434	c.249C>T	c.(247-249)CGC>CGT	p.R83R	RDH13_uc002qip.2_Silent_p.R12R|RDH13_uc010yfq.1_RNA|RDH13_uc010esr.1_5'Flank	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	83							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GGGTCTCCCCGCGGATGTCCT	0.413												
EPS8L1	54869	broad.mit.edu	37	19	55597445	55597445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:55597445G>A	uc002qis.3	+	16	1639	c.1535G>A	c.(1534-1536)CGT>CAT	p.R512H	EPS8L1_uc010ess.1_Missense_Mutation_p.R526H|EPS8L1_uc010yfr.1_Missense_Mutation_p.R448H|EPS8L1_uc002qiu.2_Missense_Mutation_p.R385H|EPS8L1_uc002qiv.2_Missense_Mutation_p.R190H|EPS8L1_uc002qiw.2_Missense_Mutation_p.R291H	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	512	SH3.					cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GATGACAGTCGTAAGTGGTGG	0.612												
NLRP9	338321	broad.mit.edu	37	19	56223313	56223313	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:56223313C>T	uc002qly.2	-	8	2724	c.2696G>A	c.(2695-2697)CGT>CAT	p.R899H		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	899	LRR 6.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCAGCAGGCACGGGTGATCGG	0.552												
NLRP11	204801	broad.mit.edu	37	19	56321601	56321601	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:56321601C>T	uc010ygf.1	-	5	1086	c.375G>A	c.(373-375)TCG>TCA	p.S125S	NLRP11_uc002qlz.2_Silent_p.S26S|NLRP11_uc002qmb.2_Silent_p.S26S|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	125							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACACATCTGACGAAACGTCAC	0.383												
ZSCAN5A	79149	broad.mit.edu	37	19	56733224	56733224	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:56733224C>T	uc002qmq.2	-	5	1377	c.1211G>A	c.(1210-1212)CGA>CAA	p.R404Q	ZSCAN5A_uc010ygi.1_Missense_Mutation_p.R287Q|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.R404Q|ZSCAN5A_uc002qms.1_Missense_Mutation_p.R403Q	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	404	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						AGTGTGGGTTCGCTGGTGAAA	0.517												
ZNF835	90485	broad.mit.edu	37	19	57176222	57176222	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:57176222G>A	uc010ygo.1	-	2	411	c.411C>T	c.(409-411)TGC>TGT	p.C137C	ZNF835_uc010ygn.1_Silent_p.C115C	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						AGGCCTTCCCGCAGTCCCCGC	0.642												
ZNF418	147686	broad.mit.edu	37	19	58438212	58438212	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:58438212C>T	uc002qqs.1	-	4	1629	c.1337G>A	c.(1336-1338)CGA>CAA	p.R446Q	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.R361Q	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	446	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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;0.0158)		AGTGTGGCTTCGCTGATGCTG	0.473												
ZNF256	10172	broad.mit.edu	37	19	58453320	58453320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:58453320G>A	uc002qqu.2	-	3	1091	c.856C>T	c.(856-858)CGA>TGA	p.R286*	ZNF256_uc010euj.2_Nonsense_Mutation_p.R133*	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	286	C2H2-type 3.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TGAATTCTTCGGTGCGTAATA	0.393												
ZNF274	10782	broad.mit.edu	37	19	58718166	58718166	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:58718166G>T	uc002qrq.1	+	5	795	c.336G>T	c.(334-336)GAG>GAT	p.E112D	ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_RNA|ZNF274_uc002qrr.1_Missense_Mutation_p.E80D|ZNF274_uc002qrs.1_Missense_Mutation_p.E7D|ZNF274_uc010eum.1_Translation_Start_Site	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	112					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGGTTGTTGAGGTCCTCACAC	0.537												
ZNF8	7554	broad.mit.edu	37	19	58805539	58805539	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:58805539C>T	uc002qry.1	+	4	495	c.365C>T	c.(364-366)ACG>ATG	p.T122M	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TCCCATGTCACGGGAAGGGAA	0.542												
TMEM18	129787	broad.mit.edu	37	2	675525	675525	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:675525G>A	uc002qwl.2	-	2	257	c.163C>T	c.(163-165)CAC>TAC	p.H55Y	TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	55	Helical; (Potential).				cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CACAGAAAGTGCCCGATCTGT	0.507												
SOX11	6664	broad.mit.edu	37	2	5833531	5833531	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:5833531C>T	uc002qyj.2	+	1	733	c.678C>T	c.(676-678)GAC>GAT	p.D226D		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	226	Poly-Asp.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		ATGAGgacgacgacgacgacg	0.602												
ROCK2	9475	broad.mit.edu	37	2	11351805	11351805	+	Splice_Site	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:11351805A>G	uc002rbd.1	-	18	2652	c.2203_splice	c.e18+1	p.E735_splice		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein						axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AAAAATGCATACCTTTCATGG	0.353												
TRIB2	28951	broad.mit.edu	37	2	12863670	12863670	+	Silent	SNP	C	C	T	rs144779580	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:12863670C>T	uc002rbv.3	+	2	1991	c.555C>T	c.(553-555)GAC>GAT	p.D185D	TRIB2_uc010yjp.1_Silent_p.D49D	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	185	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			stomach(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTTTAAGGACGAAGAGAGGT	0.537												
ITSN2	50618	broad.mit.edu	37	2	24509160	24509160	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:24509160A>C	uc002rfe.2	-	16	2042	c.1784T>G	c.(1783-1785)CTT>CGT	p.L595R	ITSN2_uc002rff.2_Missense_Mutation_p.L595R|ITSN2_uc002rfg.2_Missense_Mutation_p.L595R|ITSN2_uc010eyd.2_Missense_Mutation_p.L620R	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	595	Potential.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTTCTTTAAGTCTTTGGCA	0.299												
NCOA1	8648	broad.mit.edu	37	2	24927990	24927990	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:24927990A>G	uc002rfk.2	+	10	1243	c.985A>G	c.(985-987)AGA>GGA	p.R329G	NCOA1_uc010eye.2_Missense_Mutation_p.R329G|NCOA1_uc002rfi.2_Missense_Mutation_p.R178G|NCOA1_uc002rfj.2_Missense_Mutation_p.R329G|NCOA1_uc002rfl.2_Missense_Mutation_p.R329G	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	329									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCTCCTATAGATTCATATT	0.433			T	PAX3	alveolar rhadomyosarcoma							
SNX17	9784	broad.mit.edu	37	2	27598992	27598992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:27598992G>A	uc002rkg.1	+	12	1346	c.1124G>A	c.(1123-1125)TGC>TAC	p.C375Y	SNX17_uc010ylj.1_Missense_Mutation_p.C355Y|SNX17_uc010ylk.1_Missense_Mutation_p.C161Y|SNX17_uc010eza.1_Missense_Mutation_p.C161Y|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Missense_Mutation_p.C161Y|SNX17_uc010yll.1_Missense_Mutation_p.C161Y|SNX17_uc010ylm.1_Missense_Mutation_p.C161Y|SNX17_uc010yln.1_Missense_Mutation_p.C363Y|SNX17_uc010ylo.1_Missense_Mutation_p.C293Y|SNX17_uc010ylp.1_Missense_Mutation_p.C350Y|SNX17_uc010ylq.1_Missense_Mutation_p.C161Y	NM_014748	NP_055563	Q15036	SNX17_HUMAN	sorting nexin 17	375					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAGCATCTGCTTGCAGTCC	0.517												
ZNF513	130557	broad.mit.edu	37	2	27600656	27600656	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:27600656C>T	uc002rkk.2	-	4	1582	c.1382G>A	c.(1381-1383)CGT>CAT	p.R461H	ZNF513_uc002rkj.2_Missense_Mutation_p.R399H	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	461	C2H2-type 7.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCATGTGACGTTTGAGGTT	0.572												
SLC4A1AP	22950	broad.mit.edu	37	2	27898476	27898476	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:27898476A>G	uc002rlk.3	+	6	1705	c.1423A>G	c.(1423-1425)ACT>GCT	p.T475A		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	475						cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					TCTTGATAGGACTGGCCTGAT	0.393												
LCLAT1	253558	broad.mit.edu	37	2	30748598	30748598	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:30748598G>T	uc002rnj.2	+	3	465	c.256G>T	c.(256-258)GCA>TCA	p.A86S	LCLAT1_uc010ymp.1_Intron|LCLAT1_uc002rnk.1_Missense_Mutation_p.A86S|LCLAT1_uc002rnl.2_Missense_Mutation_p.A48S|LCLAT1_uc010ymq.1_Missense_Mutation_p.A48S	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	86	Helical; (Potential).				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						CCGCCTTGTGGCAACATGGCT	0.408												
HEATR5B	54497	broad.mit.edu	37	2	37287865	37287865	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:37287865C>T	uc002rpp.1	-	12	1804	c.1708G>A	c.(1708-1710)GTT>ATT	p.V570I		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	570							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				TGGTAACGAACGACAGATGGT	0.408												
SLC3A1	6519	broad.mit.edu	37	2	44539759	44539759	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:44539759G>A	uc002ruc.3	+	8	1445	c.1367G>A	c.(1366-1368)CGT>CAT	p.R456H	SLC3A1_uc002rtz.2_Missense_Mutation_p.R456H|SLC3A1_uc002rua.2_Missense_Mutation_p.R456H|SLC3A1_uc002rub.2_Missense_Mutation_p.R456H|SLC3A1_uc002rud.3_Missense_Mutation_p.R178H|SLC3A1_uc002rue.3_Missense_Mutation_p.R76H	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	456	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CTGACTTCGCGTTTGGGGAAT	0.398												
MSH6	2956	broad.mit.edu	37	2	48026311	48026311	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:48026311T>C	uc002rwd.3	+	4	1341	c.1189T>C	c.(1189-1191)TAT>CAT	p.Y397H	MSH6_uc002rwc.2_Missense_Mutation_p.Y397H|MSH6_uc010fbj.2_Missense_Mutation_p.Y95H|MSH6_uc010yoi.1_Missense_Mutation_p.Y267H|MSH6_uc010yoj.1_Missense_Mutation_p.Y95H	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	397					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	p.Y397C(1)		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)			ATCTACACTCTATGTGCCTGA	0.443			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
FOXN2	3344	broad.mit.edu	37	2	48602513	48602513	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:48602513A>G	uc002rwh.1	+	7	1542	c.1227A>G	c.(1225-1227)GGA>GGG	p.G409G		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	409					embryo development|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|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				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ACCTTGCTGGAATTCGTACAT	0.403												
TSPYL6	388951	broad.mit.edu	37	2	54483007	54483007	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:54483007G>A	uc002rxr.2	-	1	403	c.282C>T	c.(280-282)CCC>CCT	p.P94P	ACYP2_uc002rxq.3_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	TSPY-like 6	94					nucleosome assembly	nucleus					0						GGCCCTCCGCGGGTGGTGGAG	0.617												
PUS10	150962	broad.mit.edu	37	2	61175320	61175320	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:61175320C>T	uc010fci.2	-	16	1369	c.1309G>A	c.(1309-1311)GAC>AAC	p.D437N	PUS10_uc002sao.2_Missense_Mutation_p.D437N|PUS10_uc010ypk.1_Missense_Mutation_p.D214N	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	437					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			ATTTTTAAGTCCTAGGGGAGA	0.532												
UGP2	7360	broad.mit.edu	37	2	64113007	64113007	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:64113007G>C	uc002scm.2	+	6	1166	c.860G>C	c.(859-861)CGT>CCT	p.R287P	UGP2_uc002scl.2_Missense_Mutation_p.R276P|UGP2_uc010ypx.1_Missense_Mutation_p.R296P	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	287					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						AATAAAACACGTGCAGATGTA	0.363												
ADD2	119	broad.mit.edu	37	2	70923378	70923378	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:70923378G>A	uc002sgz.2	-	5	938	c.473C>T	c.(472-474)ACG>ATG	p.T158M	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.T158M|ADD2_uc002sha.2_Missense_Mutation_p.T158M|ADD2_uc002sgx.2_Missense_Mutation_p.T158M|ADD2_uc010fdt.1_Missense_Mutation_p.T158M|ADD2_uc002shc.1_Missense_Mutation_p.T158M|ADD2_uc002shd.1_Missense_Mutation_p.T158M|ADD2_uc010fdu.1_Missense_Mutation_p.T174M	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	158					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						TCTGCTCACCGTGACATAGGT	0.597												
TEX261	113419	broad.mit.edu	37	2	71219073	71219073	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:71219073C>T	uc002shn.2	-	3	305	c.191G>A	c.(190-192)CGC>CAC	p.R64H	TEX261_uc010fdy.2_Missense_Mutation_p.R17H	NM_144582	NP_653183	Q6UWH6	TX261_HUMAN	testis expressed sequence 261	64						integral to membrane					0						GGTGGGGAAGCGCTCAAAGAC	0.552												
TET3	200424	broad.mit.edu	37	2	74273650	74273650	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:74273650C>A	uc002skb.3	+	1	201	c.201C>A	c.(199-201)GCC>GCA	p.A67A	TET3_uc010fez.1_Silent_p.A67A	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	67							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ATCTGGTGGCCTTTTCGGCTG	0.607												
CCDC142	84865	broad.mit.edu	37	2	74702447	74702447	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:74702447C>T	uc002slr.2	-	7	2094	c.1701G>A	c.(1699-1701)TTG>TTA	p.L567L	MRPL53_uc002sln.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Silent_p.L560L|CCDC142_uc002slp.2_Silent_p.L567L	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	567										central_nervous_system(1)	1						CTTGAGGTGGCAACCCTTGCA	0.572												
LRRTM4	80059	broad.mit.edu	37	2	77745529	77745529	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:77745529T>C	uc002snr.2	-	3	1881	c.1466A>G	c.(1465-1467)AAG>AGG	p.K489R	LRRTM4_uc002snq.2_Missense_Mutation_p.K489R|LRRTM4_uc002sns.2_Missense_Mutation_p.K489R|LRRTM4_uc002snt.2_Missense_Mutation_p.K490R	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	489	Cytoplasmic (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		GTTTGTAGGCTTGTAGTCCAC	0.463												
CTNNA2	1496	broad.mit.edu	37	2	80646606	80646606	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:80646606C>T	uc010ysh.1	+	8	1175	c.1170C>T	c.(1168-1170)GAC>GAT	p.D390D	CTNNA2_uc010yse.1_Silent_p.D390D|CTNNA2_uc010ysf.1_Silent_p.D390D|CTNNA2_uc010ysg.1_Silent_p.D390D|CTNNA2_uc010ysi.1_Silent_p.D22D	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	390					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						ACATATCTGACTCTTTCCTGG	0.368												
ELMOD3	84173	broad.mit.edu	37	2	85617385	85617385	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:85617385A>G	uc002spf.3	+	14	1605	c.940A>G	c.(940-942)AAA>GAA	p.K314E	ELMOD3_uc002spg.3_Missense_Mutation_p.K314E|ELMOD3_uc002sph.3_Missense_Mutation_p.K314E|ELMOD3_uc010ysn.1_Missense_Mutation_p.K314E|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	314	ELMO.				phagocytosis	cytoskeleton				ovary(2)	2						CTTTGTCCTCAAAGGTGTGCT	0.562												
ST3GAL5	8869	broad.mit.edu	37	2	86073608	86073608	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:86073608G>A	uc002sqq.1	-	5	870	c.741C>T	c.(739-741)GGC>GGT	p.G247G	ST3GAL5_uc010fgq.1_Silent_p.G119G|ST3GAL5_uc002sqp.1_Silent_p.G224G	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	247	Lumenal (Potential).				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity				0						ACAGTGGTGCGCCCTCTGGAT	0.348												
ADRA2B	151	broad.mit.edu	37	2	96781615	96781615	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:96781615C>T	uc002svi.2	-	1	274	c.274G>A	c.(274-276)GAC>AAC	p.D92N		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	92	Helical; Name=3; (By similarity).	Implicated in ligand binding (By similarity).			activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AAGAGCACGTCGAGCGCCAGG	0.647												
C2orf55	343990	broad.mit.edu	37	2	99439540	99439540	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:99439540G>A	uc002szf.1	-	7	1490	c.1196C>T	c.(1195-1197)GCG>GTG	p.A399V		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	399	Pro-rich.										0						AAACGGGCTCGCGACGTCTTC	0.731												
C2orf55	343990	broad.mit.edu	37	2	99448877	99448877	+	Silent	SNP	G	G	A	rs34718472	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:99448877G>A	uc002szf.1	-	5	768	c.474C>T	c.(472-474)GAC>GAT	p.D158D		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	158											0						TGGGCAGCCCGTCGTCCTCAG	0.587												
LYG2	254773	broad.mit.edu	37	2	99860495	99860495	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:99860495A>T	uc002szw.1	-	5	600	c.487T>A	c.(487-489)TTC>ATC	p.F163I	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.F163I|LYG2_uc002szx.1_Missense_Mutation_p.F163I	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	lysozyme G-like 2 precursor	163					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			ovary(1)	1						CACGTGGGGAATTTTTTCTGG	0.463												
AFF3	3899	broad.mit.edu	37	2	100289047	100289047	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:100289047G>A	uc002tag.2	-	11	1332	c.1096C>T	c.(1096-1098)CTG>TTG	p.L366L	AFF3_uc002taf.2_Silent_p.L391L|AFF3_uc010fiq.1_Silent_p.L366L|AFF3_uc010yvr.1_Silent_p.L520L|AFF3_uc002tah.1_Silent_p.L391L	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	366					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TCATCTTCCAGCATTCTGAAA	0.373												
POU3F3	5455	broad.mit.edu	37	2	105473462	105473462	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:105473462C>T	uc010ywg.1	+	1	1494	c.1494C>T	c.(1492-1494)AGC>AGT	p.S498S		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	498					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						TGCAGACGAGCGTTCAGTGAA	0.468												
SULT1C2	6819	broad.mit.edu	37	2	108921046	108921046	+	Missense_Mutation	SNP	G	G	A	rs139416622	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:108921046G>A	uc002tdy.2	+	5	845	c.392G>A	c.(391-393)CGA>CAA	p.R131Q	SULT1C2_uc010ywp.1_Missense_Mutation_p.R46Q|SULT1C2_uc002tdx.2_Missense_Mutation_p.R142Q|SULT1C2_uc010ywq.1_Missense_Mutation_p.R145Q	NM_001056	NP_001047	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 1	131	PAPS (By similarity).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			ovary(1)	1						TATGTAGCTCGAAATGCCAAA	0.438												
CCDC138	165055	broad.mit.edu	37	2	109411014	109411014	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:109411014C>T	uc002ten.1	+	5	473	c.413C>T	c.(412-414)ACG>ATG	p.T138M	CCDC138_uc002teo.1_Missense_Mutation_p.T138M|CCDC138_uc002tep.1_Translation_Start_Site|CCDC138_uc010fjm.1_Translation_Start_Site	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	138											0						CCAACTAATACGACCTCATCG	0.388												
CCDC138	165055	broad.mit.edu	37	2	109463340	109463340	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:109463340A>G	uc002ten.1	+	12	1530	c.1470A>G	c.(1468-1470)CCA>CCG	p.P490P	CCDC138_uc002teo.1_Silent_p.P490P|CCDC138_uc002tep.1_Silent_p.P174P|CCDC138_uc010fjm.1_Silent_p.P174P	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	490											0						CCAATTTGCCATTGAGATTTT	0.333												
NPHP1	4867	broad.mit.edu	37	2	110927445	110927445	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:110927445C>T	uc002tfn.3	-	5	554	c.460G>A	c.(460-462)GGT>AGT	p.G154S	NPHP1_uc002tfm.3_Missense_Mutation_p.G154S|NPHP1_uc002tfl.3_Missense_Mutation_p.G154S|NPHP1_uc002tfo.3_Missense_Mutation_p.G92S|NPHP1_uc010ywx.1_Missense_Mutation_p.G154S|NPHP1_uc010fjv.1_Missense_Mutation_p.G154S	NM_207181	NP_997064	O15259	NPHP1_HUMAN	nephrocystin 1 isoform 2	154	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			ovary(2)	2						TATTCTTCACCGGTTGACCAT	0.244												
POLR1B	84172	broad.mit.edu	37	2	113315657	113315657	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:113315657A>G	uc002thw.2	+	8	1909	c.1329A>G	c.(1327-1329)ACA>ACG	p.T443T	POLR1B_uc010fkn.2_Silent_p.T387T|POLR1B_uc002thx.2_Silent_p.T304T|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Silent_p.T481T|POLR1B_uc002thy.2_Silent_p.T304T|POLR1B_uc010yxo.1_Silent_p.T220T	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	443					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						GTTCTAAAACAGGTAAAATTA	0.353												
FOXD4L1	200350	broad.mit.edu	37	2	114256886	114256886	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:114256886G>A	uc002tjw.3	+	1	226	c.53G>A	c.(52-54)CGG>CAG	p.R18Q		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	18					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CGCAGCCTCCGGGACTCCGAT	0.498												
EPB41L5	57669	broad.mit.edu	37	2	120844814	120844814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:120844814C>T	uc002tmg.2	+	11	997	c.871C>T	c.(871-873)CAG>TAG	p.Q291*	EPB41L5_uc010flk.2_Nonsense_Mutation_p.Q291*|EPB41L5_uc010fll.2_Nonsense_Mutation_p.Q291*|EPB41L5_uc002tmh.3_Nonsense_Mutation_p.Q291*|EPB41L5_uc010flm.2_Nonsense_Mutation_p.Q95*	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	291	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						AGATGATGATCAGGTAGGAAT	0.294												
WDR33	55339	broad.mit.edu	37	2	128477600	128477600	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:128477600G>A	uc002tpg.1	-	16	2182	c.1999C>T	c.(1999-2001)CGG>TGG	p.R667W		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	667	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTGAGGCCGTGGCAACCCC	0.637												
HS6ST1	9394	broad.mit.edu	37	2	129025780	129025780	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:129025780C>T	uc002tpt.3	-	2	1226	c.1192G>A	c.(1192-1194)GTG>ATG	p.V398M		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	398	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		TCGGTGGGCACGCGGCCCGGC	0.682												
LRP1B	53353	broad.mit.edu	37	2	141143557	141143557	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:141143557T>C	uc002tvj.1	-	67	11408	c.10436A>G	c.(10435-10437)CAT>CGT	p.H3479R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3479	Extracellular (Potential).|LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGAATTCATGAGGTCCACA	0.408										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141641551	141641551	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:141641551G>A	uc002tvj.1	-	25	4976	c.4004C>T	c.(4003-4005)GCT>GTT	p.A1335V	LRP1B_uc010fnl.1_Missense_Mutation_p.A517V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1335	Extracellular (Potential).|LDL-receptor class B 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCTGGAGTAGCCAGGCCATG	0.473										TSP Lung(27;0.18)		
GTDC1	79712	broad.mit.edu	37	2	144765060	144765060	+	Silent	SNP	G	G	A	rs116416428	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:144765060G>A	uc002tvp.2	-	7	843	c.564C>T	c.(562-564)CTC>CTT	p.L188L	GTDC1_uc002tvo.2_Silent_p.L188L|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Silent_p.L188L|GTDC1_uc010fnn.2_Silent_p.L188L|GTDC1_uc002tvs.2_Silent_p.L156L|GTDC1_uc010fno.2_Silent_p.L59L|GTDC1_uc002tvt.1_Silent_p.L188L	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	188					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CTTTAAGGCCGAGCATCTTCT	0.373												
MBD5	55777	broad.mit.edu	37	2	149247283	149247283	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:149247283C>T	uc002twm.3	+	12	4371	c.3383C>T	c.(3382-3384)GCC>GTC	p.A1128V	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.A1128V|MBD5_uc002two.2_Missense_Mutation_p.A386V|MBD5_uc002twp.2_Missense_Mutation_p.A178V	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1128						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCCTTCACTGCCTCAATTGGT	0.507												
NEB	4703	broad.mit.edu	37	2	152411514	152411514	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:152411514C>T	uc010fnx.2	-	97	14447	c.14256G>A	c.(14254-14256)ACG>ACA	p.T4752T	NEB_uc002txr.2_Silent_p.T1175T	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4752					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTGGTAACGTATAAAGAG	0.323												
NEB	4703	broad.mit.edu	37	2	152580788	152580788	+	Missense_Mutation	SNP	C	C	T	rs116678485	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:152580788C>T	uc010fnx.2	-	8	789	c.598G>A	c.(598-600)GCC>ACC	p.A200T		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	200	Nebulin 4.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGAACATGGCGGTGTTCTTA	0.453												
TANC1	85461	broad.mit.edu	37	2	160053147	160053147	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:160053147G>A	uc002uag.2	+	18	3282	c.3008G>A	c.(3007-3009)TGT>TAT	p.C1003Y	TANC1_uc010zcm.1_Missense_Mutation_p.C995Y|TANC1_uc010fom.1_Missense_Mutation_p.C809Y|TANC1_uc010fon.2_5'Flank	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1003	ANK 4.					cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						AAGGGCCAGTGTGCGCTTGTC	0.602												
FIGN	55137	broad.mit.edu	37	2	164466372	164466372	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:164466372G>A	uc002uck.1	-	3	2281	c.1970C>T	c.(1969-1971)GCG>GTG	p.A657V		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	657						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						CTGGTGCCTCGCTGTGCTGTC	0.453												
ABCB11	8647	broad.mit.edu	37	2	169851961	169851961	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:169851961T>C	uc002ueo.1	-	7	635	c.509A>G	c.(508-510)CAG>CGG	p.Q170R		NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	170	ABC transmembrane type-1 1.|Cytoplasmic (Potential).				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTTCTGTATCTGACGAGCTGC	0.358												
LRP2	4036	broad.mit.edu	37	2	170031820	170031820	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:170031820G>A	uc002ues.2	-	55	10864	c.10651C>T	c.(10651-10653)CGC>TGC	p.R3551C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3551	LDL-receptor class A 27.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CGGCAGAAGCGCTGCGGGCAA	0.532												
LRP2	4036	broad.mit.edu	37	2	170088299	170088299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:170088299G>A	uc002ues.2	-	31	5365	c.5152C>T	c.(5152-5154)CAG>TAG	p.Q1718*		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1718	EGF-like 7.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGAGGCCCCTGTGAGGAAAGC	0.488												
KBTBD10	10324	broad.mit.edu	37	2	170356084	170356084	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:170356084A>G	uc010zdh.1	+	9	828	c.770A>G	c.(769-771)TAT>TGT	p.Y257C	BBS5_uc002uet.2_Missense_Mutation_p.Y257C|BBS5_uc010fpw.2_Missense_Mutation_p.Y236C	NM_152384	NP_689597	O60662	KBTBA_HUMAN	Bardet-Biedl syndrome 5	Error:Variant_position_missing_in_O60662_after_alignment					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						CACAAAGTCTATTCTGCCAGT	0.333												
HOXD3	3232	broad.mit.edu	37	2	177036706	177036706	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:177036706G>A	uc002ukt.1	+	3	1179	c.1003G>A	c.(1003-1005)GAG>AAG	p.E335K		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	335					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCCGGAGTTCGAGCCCCATCC	0.662												
TTC30A	92104	broad.mit.edu	37	2	178482854	178482854	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:178482854G>A	uc002ulo.2	-	1	841	c.576C>T	c.(574-576)TAC>TAT	p.Y192Y		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	192	TPR 4.				cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AAGCCAGGTTGTAGGAAAGGT	0.537												
TTC30A	92104	broad.mit.edu	37	2	178483410	178483410	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:178483410G>A	uc002ulo.2	-	1	285	c.20C>T	c.(19-21)GCG>GTG	p.A7V		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	7					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGGGATCTGCGCGCCGCTCAG	0.652												
TTN	7273	broad.mit.edu	37	2	179403387	179403387	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179403387G>T	uc010zfg.1	-	303	91689	c.91465C>A	c.(91465-91467)CAA>AAA	p.Q30489K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q24184K|TTN_uc010zfi.1_Missense_Mutation_p.Q24117K|TTN_uc010zfj.1_Missense_Mutation_p.Q23992K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31416							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)			ATTGTGAATTGCTTGTCCTTA	0.438												
TTN	7273	broad.mit.edu	37	2	179421666	179421666	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179421666C>T	uc010zfg.1	-	279	80735	c.80511G>A	c.(80509-80511)CAG>CAA	p.Q26837Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Q20532Q|TTN_uc010zfi.1_Silent_p.Q20465Q|TTN_uc010zfj.1_Silent_p.Q20340Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27764							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)			GGAATTCATACTGGGAATTCT	0.453												
TTN	7273	broad.mit.edu	37	2	179444798	179444798	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179444798T>C	uc010zfg.1	-	267	59736	c.59512A>G	c.(59512-59514)ACT>GCT	p.T19838A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T13533A|TTN_uc010zfi.1_Missense_Mutation_p.T13466A|TTN_uc010zfj.1_Missense_Mutation_p.T13341A|uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20765							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)			GAGCACTCAGTTGTCACTGTA	0.453												
TTN	7273	broad.mit.edu	37	2	179457718	179457718	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179457718T>A	uc010zfg.1	-	249	51648	c.51424A>T	c.(51424-51426)AGC>TGC	p.S17142C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S10837C|TTN_uc010zfi.1_Missense_Mutation_p.S10770C|TTN_uc010zfj.1_Missense_Mutation_p.S10645C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18069							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)			AGAATCTTGCTCCCACCATCA	0.418												
TTN	7273	broad.mit.edu	37	2	179466856	179466856	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179466856T>G	uc010zfg.1	-	233	47662	c.47438A>C	c.(47437-47439)GAC>GCC	p.D15813A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D9508A|TTN_uc010zfi.1_Missense_Mutation_p.D9441A|TTN_uc010zfj.1_Missense_Mutation_p.D9316A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16740							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)			TGCTCCAATGTCAATGAAAAC	0.373												
TTN	7273	broad.mit.edu	37	2	179474470	179474470	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179474470G>A	uc010zfg.1	-	221	44200	c.43976C>T	c.(43975-43977)GCC>GTC	p.A14659V	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A8354V|TTN_uc010zfi.1_Missense_Mutation_p.A8287V|TTN_uc010zfj.1_Missense_Mutation_p.A8162V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15586							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)			AATACCCGCGGCGTTCTCTGC	0.473												
TTN	7273	broad.mit.edu	37	2	179584925	179584925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179584925C>T	uc010zfg.1	-	78	19936	c.19712G>A	c.(19711-19713)CGG>CAG	p.R6571Q	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3232Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7498							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)			CACTATGGCCCGTAACTCAAC	0.423												
SESTD1	91404	broad.mit.edu	37	2	179989141	179989141	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179989141T>C	uc002uni.3	-	11	1267	c.1117A>G	c.(1117-1119)AGG>GGG	p.R373G	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	373	Spectrin 1.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGATTTTGCCTAAATTCCAGC	0.393												
ZNF385B	151126	broad.mit.edu	37	2	180308114	180308114	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:180308114C>T	uc002unn.3	-	10	1883	c.1279G>A	c.(1279-1281)GTG>ATG	p.V427M	ZNF385B_uc002unj.2_Missense_Mutation_p.V325M|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.V324M|ZNF385B_uc002unm.2_Missense_Mutation_p.V351M	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	427						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCTGAGGACACGGCTGCCGCC	0.617												
FRZB	2487	broad.mit.edu	37	2	183730895	183730895	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:183730895G>A	uc002upa.1	-	1	604	c.386C>T	c.(385-387)TCG>TTG	p.S129L		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	129	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)			CTCCGGCCACGAGTGGCGGTA	0.622												
COL5A2	1290	broad.mit.edu	37	2	189917735	189917735	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:189917735C>T	uc002uqk.2	-	39	2838	c.2563G>A	c.(2563-2565)GGA>AGA	p.G855R	COL5A2_uc010frx.2_Missense_Mutation_p.G431R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	855					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGGCTGTCCGTCAGGACCC	0.398												
AOX1	316	broad.mit.edu	37	2	201460064	201460064	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:201460064G>A	uc002uvx.2	+	3	274	c.173G>A	c.(172-174)CGA>CAA	p.R58Q		NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	58	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATGATATCACGATACAACCCC	0.378												
AOX1	316	broad.mit.edu	37	2	201485877	201485877	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:201485877G>T	uc002uvx.2	+	18	2010	c.1909G>T	c.(1909-1911)GGT>TGT	p.G637C	AOX1_uc010zhf.1_Missense_Mutation_p.G193C|AOX1_uc010fsu.2_Missense_Mutation_p.G3C	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	637					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAGCATGCCCGGTGTGGTGGA	0.453												
FZD7	8324	broad.mit.edu	37	2	202900038	202900038	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:202900038G>A	uc002uyw.1	+	1	729	c.668G>A	c.(667-669)CGC>CAC	p.R223H		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	223	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						CTGGGCTACCGCTTCCTGGGT	0.697											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RPE	6120	broad.mit.edu	37	2	210874443	210874443	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:210874443G>A	uc002vdn.2	+	2	190	c.185G>A	c.(184-186)GGC>GAC	p.G62D	RPE_uc002vdm.2_Missense_Mutation_p.G62D|RPE_uc002vdo.2_Intron|RPE_uc010zjf.1_Missense_Mutation_p.G62D|RPE_uc002vdp.2_Intron|RPE_uc010fup.2_Intron|RPE_uc002vdq.2_5'UTR|RPE_uc002vdr.2_5'UTR	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase isoform 1	62					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity				0				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AAGCAGCTAGGCCAGGACCCT	0.423												
ABCA12	26154	broad.mit.edu	37	2	215862460	215862460	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:215862460C>A	uc002vew.2	-	23	3473	c.3253G>T	c.(3253-3255)GTA>TTA	p.V1085L	ABCA12_uc002vev.2_Missense_Mutation_p.V767L|ABCA12_uc010zjn.1_Missense_Mutation_p.V12L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1085	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTTTTTTACAAAGGCAGCT	0.348												
IGFBP2	3485	broad.mit.edu	37	2	217528750	217528750	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:217528750C>T	uc010zjt.1	+	6	1030	c.880C>T	c.(880-882)CGG>TGG	p.R294W	IGFBP2_uc010zju.1_3'UTR	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	301	Cell attachment site.|Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding				0		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCCCACCATCCGGGGGGACCC	0.652												
ZNF142	7701	broad.mit.edu	37	2	219508810	219508810	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:219508810T>C	uc002vin.2	-	8	2865	c.2429A>G	c.(2428-2430)CAG>CGG	p.Q810R	ZNF142_uc002vil.2_Missense_Mutation_p.Q771R|ZNF142_uc010fvt.2_Missense_Mutation_p.Q647R|ZNF142_uc002vim.2_Missense_Mutation_p.Q647R	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	810					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TTCTTTGTCCTGTCTCCTTAG	0.557												
SPEG	10290	broad.mit.edu	37	2	220334065	220334065	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:220334065C>T	uc010fwg.2	+	13	3679	c.3679C>T	c.(3679-3681)CGC>TGC	p.R1227C		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1227	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)		CAATGGCCACCGCATCCAGAG	0.637												
GMPPA	29926	broad.mit.edu	37	2	220366242	220366242	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:220366242T>C	uc002vlr.2	+	4	251	c.183T>C	c.(181-183)CCT>CCC	p.P61P	GMPPA_uc002vls.2_Silent_p.P61P|GMPPA_uc002vlt.2_Silent_p.P61P|GMPPA_uc002vlu.2_Silent_p.P61P|GMPPA_uc002vlv.2_Silent_p.P61P|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Silent_p.P61P	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	61					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCTACCAACCTGATGAGCCCC	0.542												
DOCK10	55619	broad.mit.edu	37	2	225727389	225727389	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:225727389C>A	uc010fwz.1	-	14	1916	c.1677G>T	c.(1675-1677)TGG>TGT	p.W559C	DOCK10_uc002vob.2_Missense_Mutation_p.W553C|DOCK10_uc002vod.1_Missense_Mutation_p.W559C	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	559							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACCTTACTGCCCAAGCAAAAG	0.343												
ALPI	248	broad.mit.edu	37	2	233323702	233323702	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:233323702C>T	uc002vst.3	+	11	1510	c.1433C>T	c.(1432-1434)GCG>GTG	p.A478V	ALPI_uc002vsu.3_Missense_Mutation_p.A389V	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	478					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCTTCGTAGCGCATGTCATG	0.706												
NEU2	4759	broad.mit.edu	37	2	233899563	233899563	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:233899563G>A	uc010zmn.1	+	2	939	c.939G>A	c.(937-939)CCG>CCA	p.P313P		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	313							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		ACCTCAACCCGCGACCTCCAG	0.692												
AGAP1	116987	broad.mit.edu	37	2	236708164	236708164	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:236708164A>G	uc002vvs.2	+	8	1550	c.955A>G	c.(955-957)ACC>GCC	p.T319A	AGAP1_uc002vvt.2_Missense_Mutation_p.T319A	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	319					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CAACCTGTTCACCGTGAGTGT	0.542												
COL6A3	1293	broad.mit.edu	37	2	238277261	238277261	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:238277261G>A	uc002vwl.2	-	10	5130	c.4845C>T	c.(4843-4845)CCC>CCT	p.P1615P	COL6A3_uc002vwo.2_Silent_p.P1409P|COL6A3_uc010znj.1_Silent_p.P1008P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1615	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)		TGGCTGCGGAGGGTCCAAACG	0.542												
ESPNL	339768	broad.mit.edu	37	2	239039978	239039978	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:239039978C>A	uc002vxq.3	+	9	2733	c.2623C>A	c.(2623-2625)CGG>AGG	p.R875R	ESPNL_uc010fyw.2_Silent_p.R571R	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	875										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGCGGAGGAGCGGAAGCTGCG	0.667												
KLHL30	377007	broad.mit.edu	37	2	239050088	239050088	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:239050088C>T	uc002vxr.1	+	1	672	c.639C>T	c.(637-639)TGC>TGT	p.C213C		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	kelch-like 30	231	BACK.										0		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCAGGCCCTGCGTGCAGCAAC	0.711												
HDAC4	9759	broad.mit.edu	37	2	239975238	239975238	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:239975238C>T	uc002vyk.3	-	26	3925	c.3133G>A	c.(3133-3135)GCT>ACT	p.A1045T	HDAC4_uc010fyy.2_Missense_Mutation_p.A1002T	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	1045	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CAAGTCTGAGCCTCGATCAGA	0.637												
GAL3ST2	64090	broad.mit.edu	37	2	242741294	242741294	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:242741294G>A	uc002wcj.1	+	3	349	c.218G>A	c.(217-219)CGC>CAC	p.R73H		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	73	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ATCCTCTACCGCTTCGCCGAG	0.667												
PANK2	80025	broad.mit.edu	37	20	3891416	3891416	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:3891416T>G	uc002wkc.2	+	3	1180	c.1174T>G	c.(1174-1176)TCA>GCA	p.S392A	PANK2_uc002wkb.2_Missense_Mutation_p.S101A|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Missense_Mutation_p.S101A|PANK2_uc002wkf.2_5'UTR	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	392					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						GAACATTGGCTCAGGGGTTAG	0.368												
SLC23A2	9962	broad.mit.edu	37	20	4913236	4913236	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:4913236G>A	uc002wlg.1	-	3	348	c.-27C>T	c.(-29--25)AACGG>AATGG		SLC23A2_uc010zqr.1_Translation_Start_Site|SLC23A2_uc002wlh.1_Translation_Start_Site|SLC23A2_uc002wli.2_Translation_Start_Site|SLC23A2_uc002wlj.1_RNA	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase						L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						TTACACAGCCGTTGGGGAGAG	0.488												
JAG1	182	broad.mit.edu	37	20	10620514	10620514	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:10620514G>A	uc002wnw.2	-	26	3805	c.3289C>T	c.(3289-3291)CGG>TGG	p.R1097W		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	1097	Cytoplasmic (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						CCCGGCTTCCGCCGCTTCCGC	0.552									Alagille_Syndrome			
SPTLC3	55304	broad.mit.edu	37	20	13074181	13074181	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:13074181G>A	uc002wod.1	+	6	1072	c.783G>A	c.(781-783)GGG>GGA	p.G261G		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	261					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)	TTGTGCTTGGGGCCCGACTCT	0.413												
ISM1	140862	broad.mit.edu	37	20	13279946	13279946	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:13279946C>T	uc010gce.1	+	6	1241	c.1235C>T	c.(1234-1236)GCG>GTG	p.A412V	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	412	AMOP.					extracellular region					0						GAGTTCTCCGCGGAGCTCCAC	0.627												
ESF1	51575	broad.mit.edu	37	20	13752052	13752052	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:13752052G>A	uc002woj.2	-	6	1436	c.1328C>T	c.(1327-1329)CCG>CTG	p.P443L	ESF1_uc002wok.1_Missense_Mutation_p.P443L	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						AGCTGTTTCCGGAGAATCACA	0.338												
KIF16B	55614	broad.mit.edu	37	20	16493497	16493497	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:16493497A>G	uc002wpg.1	-	5	578	c.420T>C	c.(418-420)GAT>GAC	p.D140D	KIF16B_uc010gch.1_Silent_p.D140D|KIF16B_uc010gci.1_Silent_p.D140D|KIF16B_uc010gcj.1_Silent_p.D140D	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	140	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						AAGAAGCTTCATCCCATCTGG	0.488												
BFSP1	631	broad.mit.edu	37	20	17479498	17479498	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:17479498C>T	uc002wpo.2	-	6	962	c.923G>A	c.(922-924)CGG>CAG	p.R308Q	BFSP1_uc002wpp.2_Missense_Mutation_p.R183Q|BFSP1_uc010zrn.1_Missense_Mutation_p.R169Q|BFSP1_uc010zro.1_Missense_Mutation_p.R169Q	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	308	Rod.|Coil 2.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						ACGATGATACCGGTCCAGCTC	0.473												
NINL	22981	broad.mit.edu	37	20	25434176	25434176	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:25434176C>T	uc002wux.1	-	24	4134	c.4060G>A	c.(4060-4062)GCC>ACC	p.A1354T	NINL_uc010gdn.1_Missense_Mutation_p.A1005T|NINL_uc002wuw.1_Missense_Mutation_p.A145T	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1354	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TGTTTCTCGGCGCCTCGCTGC	0.547												
PLAGL2	5326	broad.mit.edu	37	20	30784819	30784819	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:30784819G>A	uc002wxn.2	-	3	1144	c.927C>T	c.(925-927)GGC>GGT	p.G309G		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	309						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGTGTGGCACGCCCGTGCTGG	0.597												
FAM83C	128876	broad.mit.edu	37	20	33876762	33876762	+	Splice_Site	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:33876762C>A	uc010zux.1	-	2	632	c.514_splice	c.e2-1	p.V172_splice	FAM83C_uc002xcb.1_Splice_Site	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876											ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGCCACCACCTGGGTGGGGG	0.612												
GDF5	8200	broad.mit.edu	37	20	34022054	34022054	+	Missense_Mutation	SNP	G	G	A	rs139413270		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:34022054G>A	uc002xck.1	-	2	1478	c.1159C>T	c.(1159-1161)CGC>TGC	p.R387C	GDF5_uc010gfc.1_Missense_Mutation_p.R387C|uc002xcj.2_Silent_p.A155A|GDF5_uc010zvc.1_Missense_Mutation_p.R387C	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	387					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTGCCCTGGCGAGTGGCCAGT	0.582												
CEP250	11190	broad.mit.edu	37	20	34091729	34091729	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:34091729G>T	uc002xcm.2	+	31	6203	c.5532G>T	c.(5530-5532)CAG>CAT	p.Q1844H	CEP250_uc010zve.1_Missense_Mutation_p.Q1212H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1844	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACGCCCTCCAGGGAGCTCTGG	0.607												
CPNE1	8904	broad.mit.edu	37	20	34218375	34218375	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:34218375T>C	uc002xdf.2	-	15	1451	c.1088A>G	c.(1087-1089)AAC>AGC	p.N363S	CPNE1_uc002xdc.2_Missense_Mutation_p.N25S|CPNE1_uc010zvj.1_Missense_Mutation_p.N368S|CPNE1_uc002xde.2_Missense_Mutation_p.N339S|CPNE1_uc002xdg.2_Missense_Mutation_p.N363S|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.N363S|CPNE1_uc002xdi.2_Missense_Mutation_p.N363S|CPNE1_uc002xdj.2_Missense_Mutation_p.N363S|CPNE1_uc002xdk.2_Missense_Mutation_p.N363S|CPNE1_uc002xdl.2_Missense_Mutation_p.N363S|CPNE1_uc002xdm.2_Missense_Mutation_p.N363S	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	363	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ACAGTAGGGGTTACTGGGGTT	0.493												
DLGAP4	22839	broad.mit.edu	37	20	35064647	35064647	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:35064647G>A	uc002xff.2	+	4	1570	c.1135G>A	c.(1135-1137)GAC>AAC	p.D379N	DLGAP4_uc010zvp.1_Missense_Mutation_p.D379N	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	379					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGAGGACAGCGACGAGTCCGG	0.716												
VSTM2L	128434	broad.mit.edu	37	20	36560064	36560064	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:36560064T>C	uc002xhk.3	+	2	403	c.149T>C	c.(148-150)ATG>ACG	p.M50T		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	50	Ig-like.									ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				CCCCATGACATGACAGCACGG	0.622												
KIAA0406	9675	broad.mit.edu	37	20	36631163	36631163	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:36631163G>A	uc002xhl.2	-	5	2728	c.2519C>T	c.(2518-2520)CCT>CTT	p.P840L	KIAA0406_uc002xhm.2_Missense_Mutation_p.P840L	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	840							binding				0		Myeloproliferative disorder(115;0.00874)				CACTTTGGGAGGGACTGACTG	0.413												
SLC32A1	140679	broad.mit.edu	37	20	37356449	37356449	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:37356449G>A	uc002xjc.2	+	2	1008	c.745G>A	c.(745-747)GCC>ACC	p.A249T		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	249	Helical; (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)	TATCGCCACGGCCGTGCTGCT	0.572												
PLCG1	5335	broad.mit.edu	37	20	39794342	39794342	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:39794342C>T	uc002xjp.1	+	16	1796	c.1675C>T	c.(1675-1677)CGT>TGT	p.R559C	PLCG1_uc002xjo.1_Missense_Mutation_p.R559C|PLCG1_uc010zwe.1_Missense_Mutation_p.R185C|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	559	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				AGGGGCAGGGCGTGACGGGCG	0.597												
CHD6	84181	broad.mit.edu	37	20	40113207	40113207	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:40113207C>A	uc002xka.1	-	15	2220	c.2042G>T	c.(2041-2043)CGG>CTG	p.R681L	CHD6_uc002xkd.2_Missense_Mutation_p.R659L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	681					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTTCAGCCGCCGAAGCATCAT	0.453												
SLC12A5	57468	broad.mit.edu	37	20	44683557	44683557	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:44683557T>C	uc010zxl.1	+	21	2827	c.2751T>C	c.(2749-2751)CAT>CAC	p.H917H	SLC12A5_uc002xrb.2_Silent_p.H894H	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	917	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCCACAGCATGAGAGCGACA	0.547												
SLC35C2	51006	broad.mit.edu	37	20	44985238	44985238	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:44985238T>A	uc002xro.2	-	4	851	c.310A>T	c.(310-312)AGC>TGC	p.S104C	SLC35C2_uc002xrp.2_Missense_Mutation_p.S104C|SLC35C2_uc002xrq.2_Missense_Mutation_p.S104C|SLC35C2_uc002xrr.2_Missense_Mutation_p.S104C|SLC35C2_uc010zxn.1_5'UTR|SLC35C2_uc010zxo.1_5'UTR|SLC35C2_uc010zxp.1_Missense_Mutation_p.S133C	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	104	Helical; (Potential).				transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TACAGGAAGCTCCAGTTGGAC	0.607												
EYA2	2139	broad.mit.edu	37	20	45771717	45771717	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:45771717G>A	uc002xsm.2	+	10	1282	c.908G>A	c.(907-909)CGC>CAC	p.R303H	EYA2_uc010ghp.2_Missense_Mutation_p.R303H|EYA2_uc002xsn.2_Missense_Mutation_p.R308H|EYA2_uc002xso.2_Missense_Mutation_p.R303H|EYA2_uc002xsp.2_Missense_Mutation_p.R303H|EYA2_uc002xsq.2_Intron	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	303					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				ACGTCCGTGCGCATTGGCCTT	0.483												
MOCS3	27304	broad.mit.edu	37	20	49576097	49576097	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:49576097G>A	uc002xvy.1	+	1	735	c.718G>A	c.(718-720)GCG>ACG	p.A240T	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	240					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						GACCAACTGCGCGGACGGCGG	0.627												
ATP9A	10079	broad.mit.edu	37	20	50221453	50221453	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:50221453C>T	uc002xwg.1	-	27	2910	c.2910G>A	c.(2908-2910)GCG>GCA	p.A970A	ATP9A_uc010gih.1_Silent_p.A834A|ATP9A_uc002xwf.1_Silent_p.A142A	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	970	Helical; (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			ovary(4)	4						GGATGGTCAGCGCCACCATGA	0.597												
ATP9A	10079	broad.mit.edu	37	20	50235213	50235213	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:50235213T>C	uc002xwg.1	-	21	2338	c.2338A>G	c.(2338-2340)ACC>GCC	p.T780A	ATP9A_uc010gih.1_Missense_Mutation_p.T644A|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	780	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			ovary(4)	4						ACTGCACAGGTGAGCTTGCCC	0.657												
ATP9A	10079	broad.mit.edu	37	20	50273655	50273655	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:50273655G>A	uc002xwg.1	-	14	1328	c.1328C>T	c.(1327-1329)ACG>ATG	p.T443M	ATP9A_uc010gih.1_Missense_Mutation_p.T307M|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	443	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			ovary(4)	4						AGTGGTGAGCGTTGGGCCCTT	0.577												
ATP9A	10079	broad.mit.edu	37	20	50346470	50346470	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:50346470C>T	uc002xwg.1	-	2	116	c.116G>A	c.(115-117)CGC>CAC	p.R39H	ATP9A_uc010gih.1_Missense_Mutation_p.R24H	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	39	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			ovary(4)	4						CCAGACAGTGCGGGGCCTGGC	0.587												
ZFP64	55734	broad.mit.edu	37	20	50701513	50701513	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:50701513C>T	uc002xwk.2	-	9	1870	c.1521G>A	c.(1519-1521)GCG>GCA	p.A507A	ZFP64_uc002xwj.2_Silent_p.A288A	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GCAGGGCGGCCGCGCTGGAGC	0.672												
CYP24A1	1591	broad.mit.edu	37	20	52788146	52788146	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:52788146T>C	uc002xwv.2	-	3	911	c.513A>G	c.(511-513)GAA>GAG	p.E171E	CYP24A1_uc002xwu.1_Silent_p.E29E|CYP24A1_uc002xww.2_Silent_p.E171E	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	171					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCTTCATCACTTCCCCTGGTT	0.517												
CASS4	57091	broad.mit.edu	37	20	55027023	55027023	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:55027023C>T	uc002xxp.2	+	6	1016	c.791C>T	c.(790-792)GCG>GTG	p.A264V	CASS4_uc002xxq.3_Missense_Mutation_p.A264V|CASS4_uc002xxr.2_Missense_Mutation_p.A264V|CASS4_uc010zze.1_Missense_Mutation_p.A210V|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	264					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						ACCAGCTTTGCGGAAGAATCA	0.502												
CASS4	57091	broad.mit.edu	37	20	55033681	55033681	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:55033681G>A	uc002xxp.2	+	7	2464	c.2239G>A	c.(2239-2241)GTA>ATA	p.V747I	CASS4_uc002xxr.2_Missense_Mutation_p.V747I|CASS4_uc010zze.1_Missense_Mutation_p.V693I|CASS4_uc010gio.2_Missense_Mutation_p.V310I	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	747					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GCTCAAGGACGTAGCGCTGGC	0.647												
APCDD1L	164284	broad.mit.edu	37	20	57042216	57042216	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:57042216C>T	uc002xze.1	-	3	873	c.687G>A	c.(685-687)GCG>GCA	p.A229A	APCDD1L_uc010zzp.1_Silent_p.A240A	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	229						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)			GCCGCCTCTCCGCCGGGTCGG	0.731												
ZNF831	128611	broad.mit.edu	37	20	57766274	57766274	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:57766274C>A	uc002yan.2	+	1	200	c.200C>A	c.(199-201)CCT>CAT	p.P67H		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	67	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CACACGGTGCCTCCCGGGGGC	0.697												
ZNF831	128611	broad.mit.edu	37	20	57766659	57766659	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:57766659G>A	uc002yan.2	+	1	585	c.585G>A	c.(583-585)ACG>ACA	p.T195T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	195	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GGACGCAGACGCACCTCAACA	0.667												
LAMA5	3911	broad.mit.edu	37	20	60912692	60912692	+	Silent	SNP	C	C	T	rs147111128		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:60912692C>T	uc002ycq.2	-	16	2185	c.2118G>A	c.(2116-2118)CGG>CGA	p.R706R		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	706	Laminin EGF-like 8.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			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)	ATGTGTCACACCGCAGCCCCG	0.667												
OGFR	11054	broad.mit.edu	37	20	61444596	61444596	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:61444596C>T	uc002ydj.2	+	7	1664	c.1629C>T	c.(1627-1629)GGC>GGT	p.G543G	OGFR_uc002ydk.2_Silent_p.G526G|OGFR_uc002ydl.2_Silent_p.G491G|uc011aam.1_Missense_Mutation_p.G16D	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	543	2.|7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					AGACCCCAGGCCCCCGCCCAG	0.731												
COL20A1	57642	broad.mit.edu	37	20	61943272	61943272	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:61943272C>A	uc011aau.1	+	14	1768	c.1668C>A	c.(1666-1668)ACC>ACA	p.T556T	COL20A1_uc011aav.1_Silent_p.T377T	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	556	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TTGCAGCCACCCTGGCCCCCC	0.701												
BAGE2	85319	broad.mit.edu	37	21	11098712	11098712	+	Silent	SNP	C	C	T	rs77011809		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:11098712C>T	uc002yit.1	-	1	214	c.6G>A	c.(4-6)GCG>GCA	p.A2A	BAGE_uc002yix.2_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccactccagccgccatcttac	0												
SAMSN1	64092	broad.mit.edu	37	21	15884777	15884777	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:15884777G>T	uc002yju.1	-	4	479	c.397C>A	c.(397-399)CAG>AAG	p.Q133K	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.Q201K	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	133					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GATGAGCTCTGTCCACTGTAG	0.453												
NRIP1	8204	broad.mit.edu	37	21	16339835	16339835	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:16339835T>C	uc002yjx.2	-	4	1277	c.679A>G	c.(679-681)ACA>GCA	p.T227A		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	227	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATGACCTTTGTTCCACTTTGT	0.443												
ADAMTS5	11096	broad.mit.edu	37	21	28338429	28338429	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:28338429G>A	uc002ymg.2	-	1	1011	c.282C>T	c.(280-282)GGC>GGT	p.G94G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	94					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ACCTCCGGCCGCCCGCGTAGA	0.701												
KRTAP11-1	337880	broad.mit.edu	37	21	32253467	32253467	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:32253467C>A	uc002yov.2	-	1	408	c.377G>T	c.(376-378)GGC>GTC	p.G126V		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	126	4 X 10 AA approximate repeats.|2.					keratin filament	structural molecule activity			pancreas(1)	1						AGTAGAGATGCCGCCCACTGG	0.607												
IFNAR2	3455	broad.mit.edu	37	21	34619154	34619154	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:34619154C>T	uc002yrd.2	+	5	681	c.353C>T	c.(352-354)ACG>ATG	p.T118M	IFNAR2_uc002yrb.2_Missense_Mutation_p.T118M|IFNAR2_uc002yrc.2_Missense_Mutation_p.T118M|IFNAR2_uc002yre.2_Missense_Mutation_p.T118M|IFNAR2_uc002yrf.2_Missense_Mutation_p.T118M|IFNAR2_uc002yrg.2_Translation_Start_Site|IL10RB_uc002yrh.1_5'Flank|IL10RB_uc002yri.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	118	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGGAACACAACGTTGTTCAGT	0.448												
SON	6651	broad.mit.edu	37	21	34922085	34922085	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:34922085C>A	uc002yse.1	+	3	597	c.548C>A	c.(547-549)CCT>CAT	p.P183H	SON_uc002ysb.1_Missense_Mutation_p.P183H|SON_uc002ysc.2_Missense_Mutation_p.P183H|SON_uc002ysd.2_Translation_Start_Site|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	183					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						AATGAATCCCCTGCAGTTGTG	0.443												
MORC3	23515	broad.mit.edu	37	21	37741865	37741865	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:37741865A>G	uc002yvi.2	+	15	2275	c.2199A>G	c.(2197-2199)GAA>GAG	p.E733E		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	733	Potential.				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						GGATACTAGAAATGAATGACA	0.348												
TTC3	7267	broad.mit.edu	37	21	38538593	38538593	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:38538593T>C	uc002yvz.2	+	33	4182	c.4077T>C	c.(4075-4077)TAT>TAC	p.Y1359Y	TTC3_uc011aee.1_Silent_p.Y1049Y|TTC3_uc002ywa.2_Silent_p.Y1359Y|TTC3_uc002ywb.2_Silent_p.Y1359Y|TTC3_uc010gnf.2_Silent_p.Y1124Y|TTC3_uc002ywc.2_Silent_p.Y1049Y|TTC3_uc002ywd.1_Silent_p.Y423Y	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1359					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				CTCCTGAATATCAGCTACCAA	0.463												
KCNJ6	3763	broad.mit.edu	37	21	39086633	39086633	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:39086633G>A	uc011aej.1	-	3	880	c.827C>T	c.(826-828)CCG>CTG	p.P276L	KCNJ6_uc002ywo.2_Missense_Mutation_p.P276L	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	276	Cytoplasmic (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	AATGATCAGCGGTGACACCAG	0.493												
DSCAM	1826	broad.mit.edu	37	21	41414401	41414401	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:41414401G>A	uc002yyq.1	-	32	6035	c.5583C>T	c.(5581-5583)AGC>AGT	p.S1861S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1861	Cytoplasmic (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)				CGGAAGGGGTGCTGGAGGTCA	0.542												
DSCAM	1826	broad.mit.edu	37	21	41710234	41710234	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:41710234C>T	uc002yyq.1	-	8	2029	c.1577G>A	c.(1576-1578)CGT>CAT	p.R526H	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	526	Extracellular (Potential).|Ig-like C2-type 6.				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)				GCCAATCACACGACAGTGAAT	0.433												
KRTAP10-4	386672	broad.mit.edu	37	21	45994422	45994422	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:45994422T>C	uc002zfk.1	+	1	817	c.787T>C	c.(787-789)TCC>CCC	p.S263P	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	263	36 X 5 AA repeats of C-C-X(3).					keratin filament					0						TTGCTGCACCTCCTCTCCCTG	0.617												
ADARB1	104	broad.mit.edu	37	21	46604951	46604951	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:46604951G>A	uc002zgy.2	+	9	2065	c.1630G>A	c.(1630-1632)GGG>AGG	p.G544R	ADARB1_uc002zgr.2_Missense_Mutation_p.G544R|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.G504R|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.G504R|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	544	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		AACGTGGGACGGGGTGCTGCA	0.592												
LSS	4047	broad.mit.edu	37	21	47635156	47635156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:47635156G>A	uc002zij.2	-	9	1028	c.949C>T	c.(949-951)CAG>TAG	p.Q317*	LSS_uc011afv.1_Nonsense_Mutation_p.Q306*|LSS_uc002zil.2_Nonsense_Mutation_p.Q317*|LSS_uc002zik.2_Nonsense_Mutation_p.Q237*	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	317					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					TACAGCTTCTGCACGGCCCGC	0.632												
PCNT	5116	broad.mit.edu	37	21	47771404	47771404	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:47771404G>A	uc002zji.3	+	9	1513	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	PCNT_uc002zjj.2_Missense_Mutation_p.R351H	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	469	Glu-rich.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GAGATCAGGCGCTTGTGGTCC	0.448												
DIP2A	23181	broad.mit.edu	37	21	47966860	47966860	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:47966860C>T	uc002zjo.2	+	21	2610	c.2427C>T	c.(2425-2427)GAC>GAT	p.D809D	DIP2A_uc011afy.1_Silent_p.D745D|DIP2A_uc011afz.1_Silent_p.D805D|DIP2A_uc002zjm.2_Silent_p.D809D|DIP2A_uc010gql.2_Silent_p.D766D|DIP2A_uc002zjn.2_Silent_p.D809D|DIP2A_uc002zjq.2_Silent_p.D201D	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	809					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCAAACTGGACGGGCTGATGG	0.582												
BCL2L13	23786	broad.mit.edu	37	22	18171852	18171852	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:18171852A>G	uc002zmw.2	+	4	548	c.330A>G	c.(328-330)AAA>AAG	p.K110K	BCL2L13_uc002zmu.2_Silent_p.K110K|BCL2L13_uc002zmv.2_Silent_p.K110K|BCL2L13_uc002zmx.2_Intron|BCL2L13_uc002zmy.2_Silent_p.K110K|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	110	BH3.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		TTGGAGAAAAAGTGTCCCAGG	0.498												
CLTCL1	8218	broad.mit.edu	37	22	19175559	19175559	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:19175559C>A	uc002zpb.2	-	29	4443	c.4368G>T	c.(4366-4368)CAG>CAT	p.Q1456H	CLTCL1_uc011agv.1_Missense_Mutation_p.Q1456H|CLTCL1_uc011agw.1_Missense_Mutation_p.Q1435H|CLTCL1_uc011agt.1_Missense_Mutation_p.Q247H|CLTCL1_uc011agu.1_Intron	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1456	Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					TGTTGTGGCTCTGGACTGACC	0.572			T	?	ALCL							
ARVCF	421	broad.mit.edu	37	22	19969175	19969175	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:19969175C>T	uc002zqz.2	-	5	726	c.455G>A	c.(454-456)GGC>GAC	p.G152D	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_Missense_Mutation_p.G152D	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	152					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					TAGTGGGGGGCCGCCATCCAG	0.637												
ZDHHC8	29801	broad.mit.edu	37	22	20130522	20130522	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:20130522C>G	uc002zrq.2	+	10	1475	c.1369C>G	c.(1369-1371)CCC>GCC	p.P457A	ZDHHC8_uc002zrr.1_Missense_Mutation_p.P457A|ZDHHC8_uc010gsa.2_Missense_Mutation_p.P263A	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	457	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					TGAGGGGGGGCCCCCCACGCC	0.687												
KLHL22	84861	broad.mit.edu	37	22	20819312	20819312	+	Silent	SNP	G	G	A	rs140533712	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:20819312G>A	uc002zsl.1	-	4	1054	c.945C>T	c.(943-945)AGC>AGT	p.S315S	KLHL22_uc011ahr.1_Silent_p.S172S|KLHL22_uc002zsm.1_Silent_p.S315S	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	315	Kelch 1.				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)			TGGCCTGGTCGCTGAGGACAG	0.627												
AIFM3	150209	broad.mit.edu	37	22	21331366	21331366	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:21331366G>A	uc002ztj.2	+	14	1482	c.1264G>A	c.(1264-1266)GTC>ATC	p.V422I	AIFM3_uc002ztk.2_Missense_Mutation_p.V422I|AIFM3_uc002ztl.2_Missense_Mutation_p.V428I|AIFM3_uc011ahx.1_Missense_Mutation_p.V410I|AIFM3_uc002ztm.1_Missense_Mutation_p.V234I|LZTR1_uc002ztn.2_5'Flank	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	422					activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCGGGCTGACGTCTGCGTGGT	0.507												
CABIN1	23523	broad.mit.edu	37	22	24487673	24487673	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:24487673A>C	uc002zzi.1	+	24	3789	c.3662A>C	c.(3661-3663)CAG>CCG	p.Q1221P	CABIN1_uc002zzj.1_Missense_Mutation_p.Q1171P|CABIN1_uc002zzl.1_Missense_Mutation_p.Q1221P	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1221					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						AAGCAGCAGCAGCCACCCACC	0.597												
UPB1	51733	broad.mit.edu	37	22	24916395	24916395	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:24916395G>T	uc003aaf.2	+	7	953	c.832G>T	c.(832-834)GCC>TCC	p.A278S	UPB1_uc003aae.2_Missense_Mutation_p.A210S|UPB1_uc011ajt.1_Missense_Mutation_p.A278S	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	278	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)					CGCAGCCATTGCCAATCACTG	0.607												
TPST2	8459	broad.mit.edu	37	22	26937268	26937268	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:26937268C>T	uc003acv.2	-	2	497	c.329G>A	c.(328-330)CGC>CAC	p.R110H	TPST2_uc003acw.2_Missense_Mutation_p.R110H|TPST2_uc003acx.2_Missense_Mutation_p.R110H|TPST2_uc011akf.1_Missense_Mutation_p.R110H	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	110	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1						CCAGGCCTGGCGCATGGCCAG	0.697												
MN1	4330	broad.mit.edu	37	22	28196314	28196314	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:28196314C>T	uc003adj.2	-	1	1173	c.218G>A	c.(217-219)CGC>CAC	p.R73H		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	73							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CGAGTGGCCGCGCGCGTGGAA	0.682			T	ETV6	AML|meningioma							
ASCC2	84164	broad.mit.edu	37	22	30221642	30221642	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:30221642A>C	uc003agr.2	-	3	314	c.209T>G	c.(208-210)CTG>CGG	p.L70R	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.L70R|ASCC2_uc011akr.1_Intron	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AGGCAAGGCCAGGAGCCAGTC	0.488												
SF3A1	10291	broad.mit.edu	37	22	30734814	30734814	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:30734814C>T	uc003ahl.2	-	11	1839	c.1707G>A	c.(1705-1707)TCG>TCA	p.S569S		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	569					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						TGGGTGGAGCCGAGCTGGGGA	0.537												
PATZ1	23598	broad.mit.edu	37	22	31741335	31741335	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:31741335G>A	uc003akq.2	-	1	915	c.254C>T	c.(253-255)GCT>GTT	p.A85V	PATZ1_uc003akp.2_Missense_Mutation_p.A85V|PATZ1_uc003akr.2_Missense_Mutation_p.A85V|PATZ1_uc003aks.2_Missense_Mutation_p.A85V|uc003akt.2_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	85	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						CCCTACATCAGCCGGACCCCC	0.692												
MYH9	4627	broad.mit.edu	37	22	36684430	36684430	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:36684430G>A	uc003apg.2	-	34	5031	c.4800C>T	c.(4798-4800)GAC>GAT	p.D1600D		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1600	Potential.				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						GCTTCCTCTCGTCCTCCAGCT	0.622			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
C22orf33	339669	broad.mit.edu	37	22	37395938	37395938	+	Missense_Mutation	SNP	A	A	G	rs112746500		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:37395938A>G	uc003aqf.2	-	4	723	c.577T>C	c.(577-579)TCC>CCC	p.S193P	C22orf33_uc003aqe.2_Missense_Mutation_p.S108P	NM_001163857	NP_001157329	O43247	EAN57_HUMAN	hypothetical protein LOC339669 isoform 1	193											0						GAGAAGACGGAGGAGATTTCC	0.542												
TMPRSS6	164656	broad.mit.edu	37	22	37482378	37482378	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:37482378G>A	uc003aqs.1	-	8	1059	c.945C>T	c.(943-945)GGC>GGT	p.G315G	TMPRSS6_uc003aqt.1_Silent_p.G306G|TMPRSS6_uc003aqu.2_Silent_p.G306G	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	315	CUB 1.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						AGCTGTGCAGGCCCTTCTTCC	0.662												
C1QTNF6	114904	broad.mit.edu	37	22	37581312	37581312	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:37581312G>A	uc003aqw.1	-	1	683	c.178C>T	c.(178-180)CGC>TGC	p.R60C	C1QTNF6_uc003aqx.1_Missense_Mutation_p.R79C|C1QTNF6_uc003aqy.1_Missense_Mutation_p.R79C|C1QTNF6_uc003aqz.1_RNA	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	60						collagen					0						GCGTGGGGGCGGCCGGAGGAA	0.632												
MICALL1	85377	broad.mit.edu	37	22	38318086	38318086	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:38318086G>A	uc003aui.2	+	6	761	c.677G>A	c.(676-678)CGG>CAG	p.R226Q		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	226						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					CCGGGGACACGGTCGGGGACC	0.652												
KCNJ4	3761	broad.mit.edu	37	22	38824079	38824079	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:38824079C>T	uc003avs.1	-	2	156	c.59G>A	c.(58-60)CGC>CAC	p.R20H	KCNJ4_uc003avt.1_Missense_Mutation_p.R20H	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	20	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					CTTGACGAAGCGGTTGCGGCG	0.642												
APOBEC3B	9582	broad.mit.edu	37	22	39382072	39382072	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:39382072C>A	uc003awo.1	+	3	484	c.430C>A	c.(430-432)CGC>AGC	p.R144S	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.R144S|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	144					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)					GGCAGGAGCCCGCGTGACGAT	0.592												
APOBEC3D	140564	broad.mit.edu	37	22	39418983	39418983	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:39418983G>A	uc011aoe.1	+	2	228	c.174G>A	c.(172-174)CCG>CCA	p.P58P	APOBEC3D_uc011aod.1_Silent_p.P58P|APOBEC3D_uc011aof.1_Silent_p.P58P|APOBEC3D_uc003awu.3_Silent_p.P58P|APOBEC3D_uc003awt.3_Silent_p.P58P|APOBEC3D_uc010gxu.2_5'UTR	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	58					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0	Melanoma(58;0.04)					TTCGAGGCCCGGTACTACCCA	0.517												
TAB1	10454	broad.mit.edu	37	22	39826200	39826200	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:39826200C>T	uc003axt.2	+	11	1537	c.1488C>T	c.(1486-1488)GGC>GGT	p.G496G	TAB1_uc003axr.2_Silent_p.G572G|TAB1_uc011aok.1_Silent_p.G330G|TAB1_uc003axu.1_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	496					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						TGGACCATGGCGAGCAGAGCG	0.647												
EP300	2033	broad.mit.edu	37	22	41543950	41543950	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:41543950G>A	uc003azl.3	+	12	2636	c.2241G>A	c.(2239-2241)CCG>CCA	p.P747P		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	747					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CTCTCAACCCGGTTAGTTTGA	0.463			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
TNFRSF13C	115650	broad.mit.edu	37	22	42321471	42321471	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:42321471G>A	uc003bbl.2	-	3	499	c.455C>T	c.(454-456)CCA>CTA	p.P152L	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.P153L	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN	BAFF receptor	152	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GGTGGTTCCTGGGTCTTCCCC	0.632												
TTLL12	23170	broad.mit.edu	37	22	43570381	43570381	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:43570381G>A	uc003bdq.2	-	8	1095	c.1063C>T	c.(1063-1065)CTG>TTG	p.L355L	TTLL12_uc003bdr.1_Silent_p.L355L	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	355	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)				TGGTTCAGCAGCACGCCTGGC	0.701												
SCUBE1	80274	broad.mit.edu	37	22	43623412	43623412	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:43623412C>A	uc003bdt.1	-	10	1263	c.1175G>T	c.(1174-1176)AGG>ATG	p.R392M		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	392	EGF-like 9; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GTGGAGCCGCCTCCCCGGGGG	0.657												
SMC1B	27127	broad.mit.edu	37	22	45750990	45750990	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:45750990T>C	uc003bgc.2	-	20	3019	c.2967A>G	c.(2965-2967)CTA>CTG	p.L989L	SMC1B_uc003bgd.2_Silent_p.L989L	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	989	Potential.				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)		GATCAGACTGTAGAGCCTATT	0.498												
CELSR1	9620	broad.mit.edu	37	22	46931895	46931895	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:46931895G>A	uc003bhw.1	-	1	1173	c.1173C>T	c.(1171-1173)CGC>CGT	p.R391R		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	391	Extracellular (Potential).|Cadherin 2.				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)		CCCCCAACACGCGGTAACGCA	0.692												
TBC1D22A	25771	broad.mit.edu	37	22	47189608	47189608	+	Silent	SNP	G	G	A	rs149181794	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:47189608G>A	uc003bib.2	+	3	465	c.330G>A	c.(328-330)GGG>GGA	p.G110G	TBC1D22A_uc010haf.2_Silent_p.G80G|TBC1D22A_uc003bic.2_Silent_p.G110G|TBC1D22A_uc003bie.2_Silent_p.G91G|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Silent_p.G63G	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	110						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGCGGCAGGGGCGGCCCACGC	0.706												
MAPK11	5600	broad.mit.edu	37	22	50705416	50705416	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:50705416C>T	uc003bkr.2	-	7	615	c.557G>A	c.(556-558)CGC>CAC	p.R186H	MAPK11_uc010hax.2_Missense_Mutation_p.R8H|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_3'UTR|MAPK11_uc010haz.2_Missense_Mutation_p.R78H	NM_002751	NP_002742	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	186	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			lung(1)|breast(1)	2		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGGTACCAGCGCGTGGCCAC	0.637												
SBF1	6305	broad.mit.edu	37	22	50893694	50893694	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:50893694A>G	uc003blh.2	-	33	4708	c.4513T>C	c.(4513-4515)TTC>CTC	p.F1505L	SBF1_uc003ble.2_5'UTR|SBF1_uc003blf.2_5'UTR|SBF1_uc011arx.1_Missense_Mutation_p.F1143L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1479	Myotubularin phosphatase.				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)		ACGGGTGTGAAGCCGCTGCTC	0.677												
SHANK3	85358	broad.mit.edu	37	22	51117092	51117092	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:51117092A>G	uc003bne.1	+	4	419	c.419A>G	c.(418-420)GAC>GGC	p.D140G		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	140										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AAGGGGCTGGACCCCAACTTC	0.607												
ITPR1	3708	broad.mit.edu	37	3	4718358	4718358	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:4718358G>A	uc003bqa.2	+	24	3161	c.2813G>A	c.(2812-2814)CGG>CAG	p.R938Q	ITPR1_uc010hca.1_Missense_Mutation_p.R923Q|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.R932Q	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	947	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTGGTGCTCCGGGGAGGAGGC	0.562												
RAD18	56852	broad.mit.edu	37	3	8944129	8944129	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:8944129G>A	uc003brd.2	-	10	1180	c.1103C>T	c.(1102-1104)TCA>TTA	p.S368L	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	368					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGTTTTTTGTGACATTCCAGC	0.328								Rad6_pathway				
BRPF1	7862	broad.mit.edu	37	3	9781016	9781016	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:9781016T>C	uc003bse.2	+	3	1332	c.933T>C	c.(931-933)CCT>CCC	p.P311P	BRPF1_uc003bsf.2_Silent_p.P311P|BRPF1_uc003bsg.2_Silent_p.P311P|BRPF1_uc011ati.1_Silent_p.P311P	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	311	PHD-type.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					CCTATATCCCTGAGGGCCAGT	0.587												
MKRN2	23609	broad.mit.edu	37	3	12610389	12610389	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:12610389T>C	uc003bxd.2	+	2	98	c.42T>C	c.(40-42)GGT>GGC	p.G14G	MKRN2_uc003bxe.2_Silent_p.G14G|MKRN2_uc011aus.1_Intron	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	14	C3H1-type 1.					intracellular	ligase activity|nucleic acid binding|zinc ion binding				0						TTATGCATGGTGTGTGTCGGG	0.418												
NUP210	23225	broad.mit.edu	37	3	13427823	13427823	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:13427823T>C	uc003bxv.1	-	6	852	c.769A>G	c.(769-771)ACC>GCC	p.T257A		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	257	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)					TGAATGGAGGTTCCCACCATC	0.463												
SLC6A6	6533	broad.mit.edu	37	3	14485232	14485232	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:14485232T>C	uc010heg.2	+	10	381	c.90T>C	c.(88-90)CCT>CCC	p.P30P	SLC6A6_uc010hee.1_Silent_p.P30P|SLC6A6_uc003byp.2_Silent_p.P30P|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Silent_p.P30P|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	30	Cytoplasmic (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						GCACGCGGCCTGAGGACGAGG	0.582												
C3orf19	51244	broad.mit.edu	37	3	14693376	14693376	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:14693376G>T	uc003byw.2	+	1	124	c.33G>T	c.(31-33)ACG>ACT	p.T11T	C3orf19_uc010hei.1_Silent_p.T11T	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	hypothetical protein LOC51244	11											0						TGGACGTCACGGCCTCCTCGG	0.577												
KCNH8	131096	broad.mit.edu	37	3	19491653	19491653	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:19491653C>T	uc003cbk.1	+	9	1626	c.1431C>T	c.(1429-1431)TAC>TAT	p.Y477Y	KCNH8_uc011awe.1_Silent_p.Y477Y|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Silent_p.Y136Y	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	477	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AGAGGATGTACTCCAGATGGT	0.433												
TRIM71	131405	broad.mit.edu	37	3	32859727	32859727	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:32859727C>T	uc003cff.2	+	1	218	c.155C>T	c.(154-156)GCG>GTG	p.A52V		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	52	RING-type.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						cctggggcggcggcgcgccgc	0.468												
SLC22A14	9389	broad.mit.edu	37	3	38357186	38357186	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:38357186C>A	uc010hhc.1	+	9	1558	c.1516C>A	c.(1516-1518)CTC>ATC	p.L506I	SLC22A14_uc003cib.2_Missense_Mutation_p.L506I|SLC22A14_uc011ayo.1_RNA	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	506	Helical; (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CGCTGAGCTCCTCCCCACTGT	0.557												
SCN10A	6336	broad.mit.edu	37	3	38765017	38765017	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:38765017C>A	uc003ciq.2	-	18	3256	c.3256G>T	c.(3256-3258)GGC>TGC	p.G1086C		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1086					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCGTGCTGCCCTCAGAGGAG	0.512												
SCN10A	6336	broad.mit.edu	37	3	38768219	38768219	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:38768219C>T	uc003ciq.2	-	16	2965	c.2965G>A	c.(2965-2967)GCT>ACT	p.A989T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	989					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCGGATTAGCGATGAAGTCA	0.567												
KBTBD5	131377	broad.mit.edu	37	3	42727236	42727236	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:42727236C>T	uc003clv.1	+	1	226	c.126C>T	c.(124-126)CGC>CGT	p.R42R		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	42	BTB.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CGGGCGAGCGCGAGTTCCCGT	0.682												
CCDC13	152206	broad.mit.edu	37	3	42793519	42793519	+	Splice_Site	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:42793519T>C	uc003cly.3	-	5	598	c.514_splice	c.e5-1	p.L172_splice	CCDC13_uc003clz.2_Splice_Site_p.L172_splice|CCDC13_uc011azq.1_Splice_Site_p.L172_splice	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13											ovary(1)	1						TGTCTGCAGCTGAAAAAGCAA	0.557												
FYCO1	79443	broad.mit.edu	37	3	46008259	46008259	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:46008259T>C	uc003cpb.3	-	8	2773	c.2567A>G	c.(2566-2568)CAG>CGG	p.Q856R	FYCO1_uc011bal.1_Missense_Mutation_p.Q856R	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	856	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTCTCCTCCTGCAGTGCCCC	0.622												
PTPN23	25930	broad.mit.edu	37	3	47447502	47447502	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:47447502G>A	uc003crf.1	+	6	608	c.512G>A	c.(511-513)CGC>CAC	p.R171H	PTPN23_uc011baw.1_Missense_Mutation_p.R136H|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.R41H	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	171	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GACATGAGCCGCCAGATCCTT	0.617												
COL7A1	1294	broad.mit.edu	37	3	48626315	48626315	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:48626315C>A	uc003ctz.2	-	18	2429	c.2428G>T	c.(2428-2430)GGC>TGC	p.G810C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	810	Nonhelical region (NC1).|Fibronectin type-III 7.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACTCCGGCCCCAGGCCAGT	0.632												
WDR6	11180	broad.mit.edu	37	3	49050488	49050488	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:49050488G>A	uc003cvj.2	+	2	1749	c.1611G>A	c.(1609-1611)GTG>GTA	p.V537V	WDR6_uc011bbx.1_Missense_Mutation_p.C366Y|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Silent_p.V481V|WDR6_uc011bbz.1_Silent_p.V456V	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	507	WD 8.				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)		ACTTCCTGGTGTGTGGTGACC	0.627												
NDUFAF3	25915	broad.mit.edu	37	3	49060598	49060598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:49060598C>T	uc003cvq.2	+	5	1052	c.548C>T	c.(547-549)GCT>GTT	p.A183V	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|uc011bcb.1_5'Flank|MIR425_hsa-mir-425|MI0001448_5'Flank|NDUFAF3_uc003cvn.2_Missense_Mutation_p.A126V|uc003cvo.1_5'Flank|MIR191_hsa-mir-191|MI0000465_5'Flank|NDUFAF3_uc003cvp.2_Missense_Mutation_p.A126V|NDUFAF3_uc003cvr.2_Missense_Mutation_p.A126V|NDUFAF3_uc003cvs.2_Missense_Mutation_p.A126V	NM_199069	NP_951032	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	183					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding				0						GGCCAAGCTGCTCAATGAACC	0.512												
UBA7	7318	broad.mit.edu	37	3	49848752	49848752	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:49848752G>T	uc003cxr.2	-	9	1247	c.1076C>A	c.(1075-1077)CCT>CAT	p.P359H		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	359	2 approximate repeats.			GVLSPMVAMLGAVAAQEVLKAISR -> RCLEPMVACWVSS CPGSAEGNLQ (in Ref. 1; AAA75388 and 2; AAG49557).	ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGCCACCATAGGGCTCAAGAC	0.512												
RBM6	10180	broad.mit.edu	37	3	50103805	50103805	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:50103805A>C	uc003cyc.2	+	17	2946	c.2813A>C	c.(2812-2814)GAG>GCG	p.E938A	RBM6_uc010hlc.1_3'UTR|RBM6_uc003cyd.2_Missense_Mutation_p.E416A|RBM6_uc003cye.2_Missense_Mutation_p.E416A|RBM6_uc011bdi.1_Missense_Mutation_p.E280A|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	938					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AAGCGAGAGGAGCAAACCAAG	0.502												
RBM5	10181	broad.mit.edu	37	3	50129540	50129540	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:50129540C>T	uc003cyg.2	+	3	230	c.82C>T	c.(82-84)CGT>TGT	p.R28C	RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA|RBM5_uc003cyf.2_Missense_Mutation_p.R28C|RBM5_uc011bdj.1_Silent_p.S5S|RBM5_uc011bdk.1_5'UTR	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	28					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGTGATGAGCGTGAATCCCG	0.463												
SEMA3F	6405	broad.mit.edu	37	3	50211386	50211386	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:50211386T>C	uc003cyj.2	+	3	471	c.273T>C	c.(271-273)ATT>ATC	p.I91I	SEMA3F_uc003cyk.2_Silent_p.I91I	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	91	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGCCCCTCATTGTAAGGGCTG	0.627												
SEMA3F	6405	broad.mit.edu	37	3	50220116	50220116	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:50220116C>T	uc003cyj.2	+	9	1001	c.803C>T	c.(802-804)GCG>GTG	p.A268V	SEMA3F_uc003cyk.2_Missense_Mutation_p.A237V	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	268	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCTGACAGTGCGGAGCGCAAT	0.617												
IFRD2	7866	broad.mit.edu	37	3	50328082	50328082	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:50328082C>T	uc011bdp.1	-	2	408	c.279G>A	c.(277-279)TCG>TCA	p.S93S	IFRD2_uc003czb.2_Silent_p.S195S	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	93							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CACTGGAACCCGAGTCAGCTT	0.617												
CACNA2D2	9254	broad.mit.edu	37	3	50418437	50418437	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:50418437C>A	uc003daq.2	-	7	811	c.773G>T	c.(772-774)CGC>CTC	p.R258L	CACNA2D2_uc003dap.2_Missense_Mutation_p.R258L	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	258	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CGGGTAGTAGCGAGTGACTCC	0.622												
VPRBP	9730	broad.mit.edu	37	3	51464895	51464895	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:51464895A>G	uc003dbe.1	-	12	1943	c.1775T>C	c.(1774-1776)CTC>CCC	p.L592P		NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	592					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGAAAGTTTGAGGAAAACTTC	0.403												
RAD54L2	23132	broad.mit.edu	37	3	51696671	51696671	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:51696671T>C	uc011bdt.1	+	22	3764	c.3639T>C	c.(3637-3639)AGT>AGC	p.S1213S	RAD54L2_uc003dbh.2_Silent_p.S802S|RAD54L2_uc011bdu.1_Silent_p.S907S|RAD54L2_uc003dbj.2_Silent_p.S539S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1213						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGGACAGCAGTGCTGTTCCCG	0.627												
DNAH1	25981	broad.mit.edu	37	3	52391683	52391683	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:52391683C>A	uc011bef.1	+	23	4173	c.3912C>A	c.(3910-3912)AAC>AAA	p.N1304K		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1304	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGACTGCAACAAGATTCTGG	0.617												
RFT1	91869	broad.mit.edu	37	3	53126558	53126558	+	Missense_Mutation	SNP	C	C	T	rs145175244		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:53126558C>T	uc003dgj.2	-	12	1339	c.1285G>A	c.(1285-1287)GTG>ATG	p.V429M	RFT1_uc003dgk.2_Missense_Mutation_p.V390M	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	429	Helical; (Potential).				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		ATGAAGCCCACGCTGCCACAC	0.552												
SLMAP	7871	broad.mit.edu	37	3	57847813	57847813	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:57847813G>T	uc003dje.1	+	9	1171	c.966G>T	c.(964-966)AAG>AAT	p.K322N	SLMAP_uc003djc.1_Missense_Mutation_p.K322N|SLMAP_uc003djd.1_Missense_Mutation_p.K322N|SLMAP_uc003djf.1_Missense_Mutation_p.K322N|SLMAP_uc003djg.1_5'Flank	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	322	Potential.|Cytoplasmic (Potential).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		ATAAATTAAAGGTATGTATTT	0.269												
FEZF2	55079	broad.mit.edu	37	3	62357003	62357003	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:62357003G>C	uc003dlh.2	-	3	1216	c.1009C>G	c.(1009-1011)CAG>GAG	p.Q337E	FEZF2_uc003dli.2_Missense_Mutation_p.Q337E	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	337	C2H2-type 3.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TTGCCGCACTGGTTGCATTTA	0.587												
FEZF2	55079	broad.mit.edu	37	3	62358211	62358211	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:62358211G>A	uc003dlh.2	-	1	540	c.333C>T	c.(331-333)GGC>GGT	p.G111G	FEZF2_uc003dli.2_Silent_p.G111G	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	111	Gly-rich.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		cgccgccgccgccaccgccgc	0.522												
PRICKLE2	166336	broad.mit.edu	37	3	64142957	64142957	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:64142957C>T	uc003dmf.2	-	5	1067	c.481G>A	c.(481-483)GTA>ATA	p.V161I		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	161	LIM zinc-binding 1.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACAGTGCATACGAAGCACGGC	0.567												
ADAMTS9	56999	broad.mit.edu	37	3	64532624	64532624	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:64532624G>A	uc003dmg.2	-	32	4906	c.4874C>T	c.(4873-4875)TCA>TTA	p.S1625L	ADAMTS9_uc011bfo.1_Missense_Mutation_p.S1597L|ADAMTS9_uc011bfp.1_Missense_Mutation_p.S536L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1625	TSP type-1 14.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAGGTCACTGAGCACTGCAA	0.532												
CNTN3	5067	broad.mit.edu	37	3	74315771	74315771	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:74315771G>A	uc003dpm.1	-	21	2927	c.2847C>T	c.(2845-2847)AAC>AAT	p.N949N		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	949	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTACTTGTACGTTATTTTGAC	0.358												
ROBO2	6092	broad.mit.edu	37	3	77607297	77607297	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:77607297A>G	uc003dpy.3	+	9	2077	c.1434A>G	c.(1432-1434)TTA>TTG	p.L478L	ROBO2_uc003dpz.2_Silent_p.L482L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.L482L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	478	Ig-like C2-type 5.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTAAGAATTTACGGGTAAGTA	0.363												
CADM2	253559	broad.mit.edu	37	3	85961603	85961603	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:85961603A>T	uc003dqj.2	+	5	1209	c.583A>T	c.(583-585)AGT>TGT	p.S195C	CADM2_uc003dqk.2_Missense_Mutation_p.S204C|CADM2_uc003dql.2_Missense_Mutation_p.S197C	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	195	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGTGGACCGGAGTGATGATGG	0.438												
ZNF654	55279	broad.mit.edu	37	3	88189154	88189154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:88189154C>T	uc003dqv.2	+	1	893	c.694C>T	c.(694-696)CAA>TAA	p.Q232*	CGGBP1_uc003dqu.2_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AAATGTGCGACAAACAGTAAT	0.358												
GPR15	2838	broad.mit.edu	37	3	98251363	98251363	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:98251363C>T	uc011bgy.1	+	1	486	c.486C>T	c.(484-486)TGC>TGT	p.C162C		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	162	Helical; Name=4; (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TTATCTCCTGCCTGCTGGGGT	0.488												
FILIP1L	11259	broad.mit.edu	37	3	99567357	99567357	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:99567357T>C	uc003dtm.2	-	5	3626	c.3163A>G	c.(3163-3165)ATA>GTA	p.I1055V	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.I1055V|FILIP1L_uc010hpf.2_Missense_Mutation_p.I631V|FILIP1L_uc010hpg.2_Missense_Mutation_p.I815V|FILIP1L_uc003dtn.2_Missense_Mutation_p.I815V|FILIP1L_uc003dtp.1_Missense_Mutation_p.I815V	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	1055						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TCAGTAGTTATCACACTTGAG	0.483												
ABI3BP	25890	broad.mit.edu	37	3	100617729	100617729	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:100617729C>T	uc003dun.2	-	4	444	c.359G>A	c.(358-360)CGT>CAT	p.R120H	ABI3BP_uc003duo.2_Missense_Mutation_p.R113H|ABI3BP_uc003dup.3_Missense_Mutation_p.R113H	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	120	Fibronectin type-III 1.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						TTTGCGAGAACGAGTTTTACC	0.478												
DZIP3	9666	broad.mit.edu	37	3	108380774	108380774	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:108380774G>A	uc003dxd.2	+	20	2672	c.2250G>A	c.(2248-2250)AGG>AGA	p.R750R	DZIP3_uc003dxf.1_Silent_p.R750R|DZIP3_uc011bhm.1_Silent_p.R201R	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	750					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AAAAGGAAAGGCTTGCTCGTC	0.343												
BTLA	151888	broad.mit.edu	37	3	112198429	112198429	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:112198429C>T	uc003dza.3	-	2	479	c.276G>A	c.(274-276)GAG>GAA	p.E92E	BTLA_uc003dzb.3_Silent_p.E92E	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated isoform 1	92	Ig-like V-type.|Extracellular (Potential).				T cell costimulation		receptor activity				0		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				AAATGTTCTTCTCTTCCTTCC	0.378												
SIDT1	54847	broad.mit.edu	37	3	113286534	113286534	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:113286534C>A	uc003eak.2	+	3	1143	c.492C>A	c.(490-492)ACC>ACA	p.T164T	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.T164T|SIDT1_uc011big.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	164	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						TGCTAGTTACCAAGCTGAAGC	0.498												
ZBTB20	26137	broad.mit.edu	37	3	114057923	114057923	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:114057923C>T	uc003ebi.2	-	5	2335	c.2155G>A	c.(2155-2157)GTC>ATC	p.V719I	ZBTB20_uc003ebj.2_Missense_Mutation_p.V646I|ZBTB20_uc010hqp.2_Missense_Mutation_p.V646I|ZBTB20_uc003ebk.2_Missense_Mutation_p.V646I|ZBTB20_uc003ebl.2_Missense_Mutation_p.V646I|ZBTB20_uc003ebm.2_Missense_Mutation_p.V646I|ZBTB20_uc003ebn.2_Missense_Mutation_p.V646I	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	719	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGGGCAGACGGAGCAGACG	0.582												
ZBTB20	26137	broad.mit.edu	37	3	114069414	114069414	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:114069414C>T	uc003ebi.2	-	4	1691	c.1511G>A	c.(1510-1512)GGC>GAC	p.G504D	ZBTB20_uc003ebj.2_Missense_Mutation_p.G431D|ZBTB20_uc010hqp.2_Missense_Mutation_p.G431D|ZBTB20_uc003ebk.2_Missense_Mutation_p.G431D|ZBTB20_uc003ebl.2_Missense_Mutation_p.G431D|ZBTB20_uc003ebm.2_Missense_Mutation_p.G431D|ZBTB20_uc003ebn.2_Missense_Mutation_p.G431D|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAGGTGTTGCCAGCTGTGCC	0.617												
ZBTB20	26137	broad.mit.edu	37	3	114070435	114070435	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:114070435G>A	uc003ebi.2	-	4	670	c.490C>T	c.(490-492)CGG>TGG	p.R164W	ZBTB20_uc003ebj.2_Missense_Mutation_p.R91W|ZBTB20_uc010hqp.2_Missense_Mutation_p.R91W|ZBTB20_uc003ebk.2_Missense_Mutation_p.R91W|ZBTB20_uc003ebl.2_Missense_Mutation_p.R91W|ZBTB20_uc003ebm.2_Missense_Mutation_p.R91W|ZBTB20_uc003ebn.2_Missense_Mutation_p.R91W|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	164	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGCGAGACCCGTAGCACGCCG	0.567												
ARHGAP31	57514	broad.mit.edu	37	3	119121032	119121032	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:119121032G>A	uc003ecj.3	+	10	1965	c.1433G>A	c.(1432-1434)CGT>CAT	p.R478H		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	478					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						CCCTCGCCGCGTAACCAGCGC	0.582												
GPR156	165829	broad.mit.edu	37	3	119887227	119887227	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:119887227T>C	uc011bjf.1	-	9	1097	c.1097A>G	c.(1096-1098)AAT>AGT	p.N366S	GPR156_uc011bjg.1_Missense_Mutation_p.N362S	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	366	Cytoplasmic (Potential).|Potential.					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		AATCACAGCATTTTTCTGTAA	0.478												
NDUFB4	4710	broad.mit.edu	37	3	120320066	120320066	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:120320066C>T	uc003edu.2	+	2	368	c.289C>T	c.(289-291)CCC>TCC	p.P97S	NDUFB4_uc003edt.2_Missense_Mutation_p.P97S	NM_004547	NP_004538	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	97	Helical; (Potential).				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	TGGATTTGGGCCCCTCATCTT	0.413												
HCLS1	3059	broad.mit.edu	37	3	121356016	121356016	+	Missense_Mutation	SNP	G	G	A	rs144275149	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:121356016G>A	uc003eeh.3	-	7	667	c.542C>T	c.(541-543)ACG>ATG	p.T181M	HCLS1_uc011bjj.1_Intron|HCLS1_uc011bjk.1_RNA	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	181	Cortactin 3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)		GTGTTTCTCCGTCTCTCCCTT	0.552												
ADCY5	111	broad.mit.edu	37	3	123046525	123046525	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:123046525G>A	uc003egh.1	-	7	1887	c.1887C>T	c.(1885-1887)AAC>AAT	p.N629N	ADCY5_uc003egg.1_Silent_p.N262N|ADCY5_uc003egi.1_Silent_p.N188N	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	629	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		TGAGGTAGGCGTTGCGCTCGC	0.642												
ADCY5	111	broad.mit.edu	37	3	123049848	123049848	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:123049848G>A	uc003egh.1	-	5	1534	c.1534C>T	c.(1534-1536)CGT>TGT	p.R512C	ADCY5_uc003egg.1_Missense_Mutation_p.R145C|ADCY5_uc003egi.1_Missense_Mutation_p.R71C	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	512	Guanylate cyclase 1.|Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		ATCTTAATACGTAAACAGTGA	0.443												
KALRN	8997	broad.mit.edu	37	3	124351480	124351480	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:124351480G>A	uc003ehg.2	+	35	5517	c.5390G>A	c.(5389-5391)CGG>CAG	p.R1797Q	KALRN_uc003ehi.2_Missense_Mutation_p.R170Q|KALRN_uc003ehk.2_Missense_Mutation_p.R100Q|KALRN_uc003ehj.2_Missense_Mutation_p.R100Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1797					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CGCGATGGTCGGAAGAGCTTT	0.537												
KALRN	8997	broad.mit.edu	37	3	124436192	124436192	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:124436192A>G	uc003ehg.2	+	59	8502	c.8375A>G	c.(8374-8376)CAG>CGG	p.Q2792R	KALRN_uc003ehk.2_Missense_Mutation_p.Q1095R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2791	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GAGGCTCTGCAGTACCTTCAC	0.353												
ALG1L	200810	broad.mit.edu	37	3	125648342	125648342	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:125648342C>T	uc003eig.1	-	6	581	c.417G>A	c.(415-417)TCG>TCA	p.S139S	LOC100125556_uc003eif.3_RNA|LOC100125556_uc003eid.3_RNA|LOC100125556_uc003eie.3_RNA	NM_001015050	NP_001015050	Q6GMV1	ALG1L_HUMAN	asparagine-linked glycosylation 1-like	139							transferase activity, transferring glycosyl groups				0						GGAGCTGCTGCGACTCCCGCA	0.517												
ZXDC	79364	broad.mit.edu	37	3	126194497	126194497	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:126194497T>A	uc003eiv.2	-	1	266	c.212A>T	c.(211-213)GAC>GTC	p.D71V	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.D71V	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	71					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		AGAGTCGCCGTCGCTGTCGTC	0.468												
CHST13	166012	broad.mit.edu	37	3	126261102	126261102	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:126261102G>A	uc003eja.2	+	3	707	c.707G>A	c.(706-708)CGC>CAC	p.R236H		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	carbohydrate sulfotransferase 13	236	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.151)		CTGGACCCGCGCACGCGGCGT	0.562												
PLXNA1	5361	broad.mit.edu	37	3	126724067	126724067	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:126724067G>A	uc003ejg.2	+	6	1813	c.1809G>A	c.(1807-1809)GCG>GCA	p.A603A		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	626	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GGGAGGTGGCGCCCATCACGC	0.672												
PODXL2	50512	broad.mit.edu	37	3	127379825	127379825	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:127379825C>T	uc003ejq.2	+	3	978	c.954C>T	c.(952-954)GCC>GCT	p.A318A		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	318	Extracellular (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2						CCAGTGGGGCCGAGCACCCAG	0.607												
PLXND1	23129	broad.mit.edu	37	3	129284805	129284805	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:129284805A>G	uc003emx.2	-	24	4347	c.4247T>C	c.(4246-4248)CTA>CCA	p.L1416P	PLXND1_uc011blb.1_Missense_Mutation_p.L84P	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1416	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						GTTGTTGAGTAGTGAGGAGAA	0.572												
COL6A6	131873	broad.mit.edu	37	3	130284257	130284257	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:130284257A>G	uc010htl.2	+	3	1112	c.1081A>G	c.(1081-1083)ACC>GCC	p.T361A		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	361	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GGAGGGTGTGACCATCTTCAC	0.562												
C3orf36	80111	broad.mit.edu	37	3	133647277	133647277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:133647277C>T	uc003epz.1	-	1	1380	c.371G>A	c.(370-372)CGC>CAC	p.R124H		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	hypothetical protein LOC80111	124										ovary(1)	1						GATAGAGCAGCGGCCACCACC	0.612												
MSL2	55167	broad.mit.edu	37	3	135870724	135870724	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:135870724C>T	uc003eqx.1	-	2	1732	c.999G>A	c.(997-999)CCG>CCA	p.P333P	MSL2_uc011bmb.1_Silent_p.P259P	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	333					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TTGCTATCTTCGGAGTTGCTG	0.438												
PRR23B	389151	broad.mit.edu	37	3	138739311	138739311	+	Missense_Mutation	SNP	C	C	T	rs149871263		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:138739311C>T	uc003esy.1	-	1	458	c.193G>A	c.(193-195)GCG>ACG	p.A65T		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	65										breast(1)	1						GCACAGCCCGCGGCCAGGACC	0.726												
CLSTN2	64084	broad.mit.edu	37	3	140282845	140282845	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:140282845G>A	uc003etn.2	+	16	2715	c.2525G>A	c.(2524-2526)TGC>TAC	p.C842Y		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	842	Helical; (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						ATCTCCGTGTGCATGCTTGTG	0.532										HNSCC(16;0.037)		
XRN1	54464	broad.mit.edu	37	3	142075828	142075828	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:142075828A>G	uc003eus.2	-	31	3665	c.3598T>C	c.(3598-3600)TCA>CCA	p.S1200P	XRN1_uc010huu.2_Missense_Mutation_p.S666P|XRN1_uc003eut.2_Missense_Mutation_p.S1200P|XRN1_uc003euu.2_Missense_Mutation_p.S1200P	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1200					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						GATGAACTTGAGCTATGTTGA	0.448												
TRPC1	7220	broad.mit.edu	37	3	142443499	142443499	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:142443499C>T	uc003evc.2	+	1	234	c.98C>T	c.(97-99)GCG>GTG	p.A33V	TRPC1_uc003evb.2_Missense_Mutation_p.A33V	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	33	Cytoplasmic (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GAGGTGATGGCGCTGAAGGAT	0.483												
ZIC4	84107	broad.mit.edu	37	3	147113965	147113965	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:147113965C>T	uc003ewd.1	-	3	635	c.362G>A	c.(361-363)CGC>CAC	p.R121H	ZIC4_uc003ewc.1_Missense_Mutation_p.R51H|ZIC4_uc011bno.1_Missense_Mutation_p.R171H	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	121						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GATGGGCTGGCGCATGTAGCG	0.657												
C3orf33	285315	broad.mit.edu	37	3	155485443	155485443	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:155485443G>A	uc003fal.1	-	5	479	c.209C>T	c.(208-210)GCT>GTT	p.A70V	C3orf33_uc003fam.1_Missense_Mutation_p.A113V	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	hypothetical protein LOC285315	70							hydrolase activity, acting on ester bonds|nucleic acid binding				0			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACCAGCAAAGCACCACGTGG	0.418												
GFM1	85476	broad.mit.edu	37	3	158363985	158363985	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:158363985T>C	uc003fce.2	+	3	373	c.266T>C	c.(265-267)ATG>ACG	p.M89T	GFM1_uc003fcd.2_Missense_Mutation_p.M89T|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.M1T	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	89					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GGTGCTGTCATGGATTCCATG	0.403												
NAALADL2	254827	broad.mit.edu	37	3	174974311	174974311	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:174974311C>T	uc003fit.2	+	4	1018	c.931C>T	c.(931-933)CTT>TTT	p.L311F	NAALADL2_uc003fiu.1_Missense_Mutation_p.L304F|NAALADL2_uc010hwy.1_Missense_Mutation_p.L133F|NAALADL2_uc010hwz.1_5'UTR	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	311	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATTGCCACTGCTTTATAAGGT	0.358												
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:178916876G>A	uc003fjk.2	+	2	420	c.263G>A	c.(262-264)CGA>CAA	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(26)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PIK3CA	5290	broad.mit.edu	37	3	178922363	178922363	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:178922363T>C	uc003fjk.2	+	6	1289	c.1132T>C	c.(1132-1134)TGT>CGT	p.C378R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	378	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C378R(3)|p.C378F(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAGAGTACCTTGTTCCAATCC	0.308		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PSMD2	5708	broad.mit.edu	37	3	184026652	184026652	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:184026652C>T	uc003fnn.1	+	21	2734	c.2701C>T	c.(2701-2703)CGG>TGG	p.R901W	PSMD2_uc011brj.1_Missense_Mutation_p.R742W|PSMD2_uc011brk.1_Missense_Mutation_p.R771W	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	901				LRKNPNYDL -> FGRTPIMISK (in Ref. 3 and 4).	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 ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGTTATCCTTCGGAAGAACCC	0.532											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EIF4G1	1981	broad.mit.edu	37	3	184043072	184043072	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:184043072T>C	uc003fnp.2	+	19	3070	c.2872T>C	c.(2872-2874)TAT>CAT	p.Y958H	EIF4G1_uc003fno.1_Missense_Mutation_p.Y899H|EIF4G1_uc010hxw.1_Missense_Mutation_p.Y794H|EIF4G1_uc003fnt.2_Missense_Mutation_p.Y669H|EIF4G1_uc003fnq.2_Missense_Mutation_p.Y871H|EIF4G1_uc003fnr.2_Missense_Mutation_p.Y794H|EIF4G1_uc010hxx.2_Missense_Mutation_p.Y965H|EIF4G1_uc003fns.2_Missense_Mutation_p.Y918H|EIF4G1_uc010hxy.2_Missense_Mutation_p.Y965H|EIF4G1_uc003fnv.3_Missense_Mutation_p.Y959H|EIF4G1_uc003fnu.3_Missense_Mutation_p.Y958H|EIF4G1_uc003fnw.2_Missense_Mutation_p.Y965H|EIF4G1_uc003fnx.2_Missense_Mutation_p.Y763H|EIF4G1_uc003fny.3_Missense_Mutation_p.Y762H|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	958	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AATGGATCAGTATTTCAACCA	0.532												
MUC4	4585	broad.mit.edu	37	3	195488973	195488973	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:195488973T>C	uc011bto.1	-	15	14573	c.14113A>G	c.(14113-14115)ACG>GCG	p.T4705A	MUC4_uc003fuz.2_Missense_Mutation_p.T431A|MUC4_uc003fva.2_Missense_Mutation_p.T313A|MUC4_uc003fvb.2_Missense_Mutation_p.T349A|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.T349A|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.T313A|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.T397A|MUC4_uc011bti.1_Missense_Mutation_p.T397A|MUC4_uc011btj.1_Missense_Mutation_p.T574A|MUC4_uc011btk.1_Missense_Mutation_p.T313A|MUC4_uc011btl.1_Missense_Mutation_p.T342A|MUC4_uc011btm.1_Missense_Mutation_p.T522A|MUC4_uc011btn.1_Missense_Mutation_p.T313A|MUC4_uc003fvo.2_Missense_Mutation_p.T597A|MUC4_uc003fvp.2_Missense_Mutation_p.T546A	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1590	VWFD.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCCCCTCCGTGCGGTTCTGG	0.746												
WDR53	348793	broad.mit.edu	37	3	196287913	196287913	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:196287913C>T	uc003fwt.2	-	3	905	c.434G>A	c.(433-435)CGG>CAG	p.R145Q		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	145	WD 3.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CCTCTGAGGCCGAAAAGCCAC	0.468												
LRRC33	375387	broad.mit.edu	37	3	196386986	196386986	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:196386986T>C	uc003fwv.2	+	3	576	c.472T>C	c.(472-474)TCG>CCG	p.S158P		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	158	Extracellular (Potential).|LRR 5.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GAACCTCTCCTCGCTGCGGTC	0.677												
MFSD7	84179	broad.mit.edu	37	4	676598	676598	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:676598C>T	uc003gay.2	-	9	1293	c.1236G>A	c.(1234-1236)CAG>CAA	p.Q412Q	MFSD7_uc003gaw.2_Silent_p.Q154Q|MFSD7_uc003gax.2_Silent_p.Q411Q|MFSD7_uc003gaz.2_Silent_p.Q293Q|MFSD7_uc003gba.2_Silent_p.Q315Q|MFSD7_uc003gbb.1_Silent_p.Q347Q	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	412					transmembrane transport	integral to membrane					0						CCTCCCCCTGCTGGCAGGTGG	0.627												
GAK	2580	broad.mit.edu	37	4	875753	875753	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:875753C>T	uc003gbm.3	-	15	1802	c.1603G>A	c.(1603-1605)GCC>ACC	p.A535T	GAK_uc003gbn.3_Missense_Mutation_p.A456T|GAK_uc010ibk.1_Missense_Mutation_p.A429T|GAK_uc003gbl.3_Missense_Mutation_p.A399T	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	535	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		ATGTACACGGCGGCCTCCGCG	0.647												
DGKQ	1609	broad.mit.edu	37	4	954870	954870	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:954870C>T	uc003gbw.2	-	22	2768	c.2694G>A	c.(2692-2694)CCG>CCA	p.P898P	DGKQ_uc010ibn.2_Silent_p.P885P	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	898					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCATGTGCCCCGGGGCCTGGA	0.687												
IDUA	3425	broad.mit.edu	37	4	995599	995599	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:995599G>A	uc003gby.2	+	6	810	c.722G>A	c.(721-723)TGC>TAC	p.C241Y	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.C194Y	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	241					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CTGCGCCACTGCCACGACGGT	0.736												
CTBP1	1487	broad.mit.edu	37	4	1207322	1207322	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:1207322T>C	uc003gcv.1	-	7	1130	c.965A>G	c.(964-966)CAG>CGG	p.Q322R	uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.Q303R|CTBP1_uc003gcu.1_Missense_Mutation_p.Q311R|CTBP1_uc003gcw.2_5'UTR	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	322	Interaction with GLIS2 2 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GATGGATGCCTGCTCGCTGTA	0.647												
MAEA	10296	broad.mit.edu	37	4	1326598	1326598	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:1326598G>A	uc003gda.2	+	6	740	c.710G>A	c.(709-711)CGC>CAC	p.R237H	MAEA_uc003gdb.2_Missense_Mutation_p.R196H|MAEA_uc011bvb.1_Missense_Mutation_p.R169H|MAEA_uc003gdc.2_Silent_p.A170A|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.R236H|MAEA_uc011bvd.1_Missense_Mutation_p.R189H|MAEA_uc010ibt.2_Intron|MAEA_uc010ibu.2_RNA	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	237					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GACGAGGTGCGCCAGGCCATG	0.547												
CRIPAK	285464	broad.mit.edu	37	4	1388615	1388615	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:1388615C>T	uc003gdf.2	+	1	3276	c.316C>T	c.(316-318)CGC>TGC	p.R106C		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	106	2.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGGAGTGCCCGCCTGCTCAC	0.667												
LETM1	3954	broad.mit.edu	37	4	1843251	1843251	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:1843251C>T	uc003gdv.2	-	3	714	c.417G>A	c.(415-417)CCG>CCA	p.P139P	LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Silent_p.P139P	NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	139	Mitochondrial intermembrane (Potential).				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GGCTGTACACCGGGCCGCCTT	0.607												
WHSC1	7468	broad.mit.edu	37	4	1980533	1980533	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:1980533C>T	uc003gdz.3	+	22	4171	c.3995C>T	c.(3994-3996)TCG>TTG	p.S1332L	WHSC1_uc003geb.3_Missense_Mutation_p.S1332L|WHSC1_uc003gec.3_Missense_Mutation_p.S1332L|WHSC1_uc003ged.3_Missense_Mutation_p.S1332L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.S551L|WHSC1_uc011bvh.1_Missense_Mutation_p.S393L|WHSC1_uc010icf.2_Missense_Mutation_p.S680L	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1332					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGCGGCATCGGTCAGAAGC	0.647			T	IGH@	MM							
NOP14	8602	broad.mit.edu	37	4	2943337	2943337	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:2943337G>A	uc003ggj.1	-	15	2243	c.2171C>T	c.(2170-2172)GCG>GTG	p.A724V	C4orf10_uc003ggd.1_RNA|C4orf10_uc003gge.1_Intron|C4orf10_uc003ggg.1_RNA|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Missense_Mutation_p.A724V|NOP14_uc003ggl.2_Missense_Mutation_p.A724V	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	724					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)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						GCTGCAGTCCGCCAGGTGATC	0.672												
HTT	3064	broad.mit.edu	37	4	3219644	3219644	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:3219644C>G	uc011bvq.1	+	53	7358	c.7213C>G	c.(7213-7215)CCC>GCC	p.P2405A		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2403	Nuclear export signal (By similarity).				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)		GGCCCGCCTGCCCCTTGTCAA	0.587												
HGFAC	3083	broad.mit.edu	37	4	3449296	3449296	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:3449296G>A	uc003ghc.2	+	11	1436	c.1433G>A	c.(1432-1434)GGC>GAC	p.G478D	HGFAC_uc010icw.2_Missense_Mutation_p.G485D	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	478	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGACCTTCGGCATCGAGAAG	0.652												
MAN2B2	23324	broad.mit.edu	37	4	6599929	6599929	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:6599929A>G	uc003gjf.1	+	9	1289	c.1253A>G	c.(1252-1254)CAG>CGG	p.Q418R	MAN2B2_uc003gje.1_Missense_Mutation_p.Q418R|MAN2B2_uc011bwf.1_Missense_Mutation_p.Q367R	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	418					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						CTGCAGGTCCAGCACCATGAT	0.602												
ACOX3	8310	broad.mit.edu	37	4	8401375	8401375	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:8401375C>T	uc010idk.2	-	8	926	c.781G>A	c.(781-783)GCC>ACC	p.A261T	ACOX3_uc003glc.3_Missense_Mutation_p.A261T|ACOX3_uc003gld.3_Missense_Mutation_p.A261T|ACOX3_uc003gle.1_Missense_Mutation_p.A166T	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	261					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						TGGAACATGGCGAAACTGTGG	0.577												
NKX3-2	579	broad.mit.edu	37	4	13545772	13545772	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:13545772T>C	uc003gmx.2	-	1	343	c.267A>G	c.(265-267)GAA>GAG	p.E89E		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	89					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGTCCCAGCCTTCCGGGCTCT	0.562												
BOD1L	259282	broad.mit.edu	37	4	13602317	13602317	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:13602317T>G	uc003gmz.1	-	10	6324	c.6207A>C	c.(6205-6207)AAA>AAC	p.K2069N	BOD1L_uc010idr.1_Missense_Mutation_p.K1406N	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2069							DNA binding			ovary(5)|breast(1)	6						TAATCAAAACTTTGCCTTGAT	0.438												
CCKAR	886	broad.mit.edu	37	4	26483341	26483341	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:26483341C>A	uc003gse.1	-	5	1359	c.1206G>T	c.(1204-1206)GAG>GAT	p.E402D		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	402	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	CTTCCTCCTCCTCCCCCACCT	0.632												
PCDH7	5099	broad.mit.edu	37	4	30724208	30724208	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:30724208C>T	uc003gsk.1	+	1	2172	c.1164C>T	c.(1162-1164)CGC>CGT	p.R388R	PCDH7_uc011bxw.1_Silent_p.R341R|PCDH7_uc011bxx.1_Silent_p.R388R	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	388	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						TCATGGCCCGCGACCGCGGGC	0.647												
WDR19	57728	broad.mit.edu	37	4	39246134	39246134	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:39246134C>T	uc003gtv.2	+	23	2761	c.2607C>T	c.(2605-2607)TAC>TAT	p.Y869Y	WDR19_uc011byi.1_Silent_p.Y709Y|WDR19_uc003gtw.1_Silent_p.Y466Y	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	869	TPR 3.				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GTCTCTACTACGATAAAGCAG	0.388												
UGDH	7358	broad.mit.edu	37	4	39511480	39511480	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:39511480T>C	uc003guk.1	-	6	1027	c.711A>G	c.(709-711)ATA>ATG	p.I237M	UGDH_uc011byp.1_Missense_Mutation_p.I140M|UGDH_uc003gul.1_Missense_Mutation_p.I170M	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	237					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)	ACAGAGCACTTATGGAGTTAA	0.383												
C4orf34	201895	broad.mit.edu	37	4	39606701	39606701	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:39606701A>G	uc003guo.2	-	2	223	c.65T>C	c.(64-66)CTG>CCG	p.L22P		NM_174921	NP_777581	Q96QK8	CD034_HUMAN	hypothetical protein LOC201895	22						integral to membrane	protein binding				0						CAGATTGATCAGTCTTCTCAT	0.393												
ATP10D	57205	broad.mit.edu	37	4	47538508	47538508	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:47538508A>G	uc003gxk.1	+	8	1234	c.1070A>G	c.(1069-1071)GAG>GGG	p.E357G	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.E357G	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	357	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						AATGTTCCCGAGCCTGATGGA	0.358												
PDGFRA	5156	broad.mit.edu	37	4	55140717	55140717	+	Silent	SNP	G	G	A	rs142562038	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:55140717G>A	uc003han.3	+	11	1909	c.1578G>A	c.(1576-1578)ACG>ACA	p.T526T	PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.T420T|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	526	Helical; (Potential).				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)	CTGAACTCACGGTGGCTGCTG	0.473			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
KDR	3791	broad.mit.edu	37	4	55956190	55956190	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:55956190A>G	uc003has.2	-	23	3427	c.3125T>C	c.(3124-3126)GTT>GCT	p.V1042A	KDR_uc003hat.1_Missense_Mutation_p.V1042A	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1042	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ACAGATTTTAACCACGTTCTT	0.438			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)		
CEP135	9662	broad.mit.edu	37	4	56823491	56823491	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:56823491A>G	uc003hbi.2	+	5	809	c.575A>G	c.(574-576)GAC>GGC	p.D192G	CEP135_uc003hbh.1_Missense_Mutation_p.D192G|CEP135_uc010igz.1_Missense_Mutation_p.D22G	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	192					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					CAACCAGATGACCCTTACATT	0.408												
KIAA1211	57482	broad.mit.edu	37	4	57182056	57182056	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:57182056G>A	uc003hbk.2	+	8	2779	c.2388G>A	c.(2386-2388)CCG>CCA	p.P796P	KIAA1211_uc010iha.2_Silent_p.P789P|KIAA1211_uc011bzz.1_Silent_p.P706P|KIAA1211_uc003hbm.1_Silent_p.P682P	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	796										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					AAGACCTCCCGTCTTTCCTTG	0.597												
REST	5978	broad.mit.edu	37	4	57798281	57798281	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:57798281T>C	uc003hch.2	+	4	3604	c.3257T>C	c.(3256-3258)GTG>GCG	p.V1086A	REST_uc003hci.2_Missense_Mutation_p.V1086A|REST_uc010ihf.2_Missense_Mutation_p.V760A	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	1086	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					TTGGTTAATGTGTACTATCTT	0.358												
EPHA5	2044	broad.mit.edu	37	4	66201823	66201823	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:66201823T>G	uc003hcy.2	-	16	2872	c.2679A>C	c.(2677-2679)GAA>GAC	p.E893D	EPHA5_uc003hcx.2_Missense_Mutation_p.E825D|EPHA5_uc003hcz.2_Missense_Mutation_p.E871D|EPHA5_uc011cah.1_Missense_Mutation_p.E894D|EPHA5_uc011cai.1_Missense_Mutation_p.E872D|EPHA5_uc003hda.2_Missense_Mutation_p.E894D	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	893	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GACGATAGCCTTCCTCTACCG	0.448										TSP Lung(17;0.13)		
CDS1	1040	broad.mit.edu	37	4	85525514	85525514	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:85525514T>C	uc011ccv.1	+	2	734	c.236T>C	c.(235-237)TTA>TCA	p.L79S		NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	79					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CTATCTGGTTTATCTTCAAGG	0.368												
WDFY3	23001	broad.mit.edu	37	4	85598426	85598426	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:85598426T>C	uc003hpd.2	-	67	10791	c.10383A>G	c.(10381-10383)TCA>TCG	p.S3461S	WDFY3_uc003hpc.2_Silent_p.S216S	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3461	FYVE-type.					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)		CCGAGCAGCCTGAGCAGCTGT	0.517												
HERC3	8916	broad.mit.edu	37	4	89571095	89571095	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:89571095G>A	uc003hrw.1	+	4	497	c.331G>A	c.(331-333)GGG>AGG	p.G111R	HERC3_uc003hrv.2_Missense_Mutation_p.G111R|HERC3_uc011cdn.1_5'UTR	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	111	RCC1 3.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTGGGGTGCAGGGAGTGATGG	0.502												
PDLIM5	10611	broad.mit.edu	37	4	95561601	95561601	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:95561601G>T	uc003hti.2	+	9	1434	c.1283G>T	c.(1282-1284)AGA>ATA	p.R428I	PDLIM5_uc011cdx.1_Missense_Mutation_p.R325I|PDLIM5_uc003hth.2_Missense_Mutation_p.R319I|PDLIM5_uc003htj.2_Missense_Mutation_p.R103I|PDLIM5_uc003htk.2_Missense_Mutation_p.R457I|PDLIM5_uc011cdy.1_Missense_Mutation_p.R306I|PDLIM5_uc003htl.2_Missense_Mutation_p.R103I	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	428	LIM zinc-binding 1.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CAGGTCATCAGGTTGGTTGTT	0.383												
CYP2U1	113612	broad.mit.edu	37	4	108871514	108871514	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:108871514C>A	uc003hyp.2	+	5	1653	c.1570C>A	c.(1570-1572)CTG>ATG	p.L524M	CYP2U1_uc011cfi.1_Missense_Mutation_p.L315M	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U,	524					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GAAGCCCCTCCTGACTGGAAG	0.388												
ALPK1	80216	broad.mit.edu	37	4	113352014	113352014	+	Silent	SNP	C	C	T	rs145906942		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:113352014C>T	uc003iap.3	+	11	1590	c.1311C>T	c.(1309-1311)TTC>TTT	p.F437F	ALPK1_uc003ian.3_Silent_p.F437F|ALPK1_uc011cfx.1_Silent_p.F359F|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.F265F	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	437							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCGAGAGTTTCGAGTGCAGGT	0.413												
ANK2	287	broad.mit.edu	37	4	114275552	114275552	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:114275552G>A	uc003ibe.3	+	38	5878	c.5778G>A	c.(5776-5778)CCG>CCA	p.P1926P	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.P1941P	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1893	Repeat-rich region.|Repeat A; approximate.				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)		AAAAACACCCGCCAGTATCGC	0.512												
ADAD1	132612	broad.mit.edu	37	4	123350870	123350870	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:123350870C>A	uc003ieo.2	+	13	1939	c.1707C>A	c.(1705-1707)CCC>CCA	p.P569P	ADAD1_uc003iep.2_Silent_p.P558P|ADAD1_uc003ieq.2_Silent_p.P551P	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	569	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						TGAAATCTCCCTGCATAGAGC	0.328												
ANKRD50	57182	broad.mit.edu	37	4	125590622	125590622	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:125590622C>T	uc003ifg.3	-	3	4076	c.3810G>A	c.(3808-3810)GGG>GGA	p.G1270G	ANKRD50_uc011cgo.1_Silent_p.G1091G|ANKRD50_uc010inw.2_Silent_p.G1270G	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1270	Ser-rich.									central_nervous_system(1)	1						CTGATTTCCCCCCTTTACTTG	0.398												
FAT4	79633	broad.mit.edu	37	4	126411264	126411264	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:126411264C>A	uc003ifj.3	+	17	13287	c.13287C>A	c.(13285-13287)GAC>GAA	p.D4429E	FAT4_uc011cgp.1_Missense_Mutation_p.D2670E|FAT4_uc003ifi.1_Missense_Mutation_p.D1906E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4429	EGF-like 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTCCTGGGGACTGTGCCTCCC	0.612												
SLC25A31	83447	broad.mit.edu	37	4	128688241	128688241	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:128688241A>G	uc003ifl.2	+	4	645	c.499A>G	c.(499-501)AAG>GAG	p.K167E		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	167	Solcar 2.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						GCGACAATTCAAGGGTTTAGG	0.343												
PCDH10	57575	broad.mit.edu	37	4	134073056	134073056	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:134073056T>C	uc003iha.2	+	1	2587	c.1761T>C	c.(1759-1761)CGT>CGC	p.R587R	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.R587R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	587	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCCAGCGCGTGAGGTGCTGC	0.662												
ELF2	1998	broad.mit.edu	37	4	139993141	139993141	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:139993141A>G	uc003ihp.1	-	5	575	c.369T>C	c.(367-369)GCT>GCC	p.A123A	ELF2_uc003ihm.1_Silent_p.A75A|ELF2_uc003ihn.1_Silent_p.A63A|ELF2_uc003iho.1_Silent_p.A75A|ELF2_uc010ioh.2_Silent_p.A63A	NM_201999	NP_973728	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription	135					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2	all_hematologic(180;0.162)					CTGGCCTCATAGCAGCATGGA	0.408												
TBC1D9	23158	broad.mit.edu	37	4	141555219	141555219	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:141555219G>T	uc010ioj.2	-	16	2901	c.2629C>A	c.(2629-2631)CTT>ATT	p.L877I		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	877						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGAAAGAGAAGAGCAAACATT	0.532												
ZNF827	152485	broad.mit.edu	37	4	146824094	146824094	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:146824094G>A	uc003ikn.2	-	2	365	c.317C>T	c.(316-318)TCT>TTT	p.S106F	ZNF827_uc003ikm.2_Missense_Mutation_p.S106F|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					ACACAAAGAAGACACTCCCGG	0.592												
POU4F2	5458	broad.mit.edu	37	4	147560460	147560460	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:147560460C>T	uc003ikv.2	+	1	416	c.168C>T	c.(166-168)GGC>GGT	p.G56G		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	56	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					CTggtggtggcggcggcggcg	0.383												
LRBA	987	broad.mit.edu	37	4	151749739	151749739	+	Silent	SNP	C	C	T	rs144797074		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:151749739C>T	uc010ipj.2	-	30	5238	c.4764G>A	c.(4762-4764)ACG>ACA	p.T1588T	LRBA_uc003ilt.3_Silent_p.T247T|LRBA_uc003ilu.3_Silent_p.T1588T	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1588						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CCACTGATGCCGTAGTTAAAG	0.398												
LRBA	987	broad.mit.edu	37	4	151814245	151814245	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:151814245A>G	uc010ipj.2	-	17	2598	c.2124T>C	c.(2122-2124)CCT>CCC	p.P708P	LRBA_uc003ilu.3_Silent_p.P708P|LRBA_uc010ipk.1_3'UTR	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	708						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TCATAGAGTTAGGGTGTTCTG	0.313												
PRSS48	345062	broad.mit.edu	37	4	152203538	152203538	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:152203538G>A	uc011cif.1	+	3	454	c.454G>A	c.(454-456)GGA>AGA	p.G152R	PRSS48_uc011cig.1_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	152	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)	1						TTGGGTGACCGGATGGGGAAA	0.463												
FHDC1	85462	broad.mit.edu	37	4	153897805	153897805	+	Missense_Mutation	SNP	G	G	A	rs143246099		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:153897805G>A	uc003inf.2	+	11	3437	c.3362G>A	c.(3361-3363)AGG>AAG	p.R1121K		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1121					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					GCTGGGGAAAGGGCCTCCCTC	0.667												
DCHS2	54798	broad.mit.edu	37	4	155253876	155253876	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:155253876C>T	uc003inw.2	-	9	1987	c.1987G>A	c.(1987-1989)GCT>ACT	p.A663T	DCHS2_uc003inx.2_Missense_Mutation_p.A1162T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	663	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGGATCCAAGCAAACACTCTA	0.453												
TDO2	6999	broad.mit.edu	37	4	156841067	156841067	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:156841067C>A	uc003ipf.1	+	12	1210	c.1146C>A	c.(1144-1146)AAC>AAA	p.N382K		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	382					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CGAAGATGAACCCAACCATTC	0.353												
GLRB	2743	broad.mit.edu	37	4	158065087	158065087	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	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	0.488												
TMEM144	55314	broad.mit.edu	37	4	159165463	159165463	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:159165463G>T	uc003ipx.2	+	12	1436	c.916G>T	c.(916-918)GCT>TCT	p.A306S	TMEM144_uc010iqi.2_RNA	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	306	Helical; (Potential).					integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AGGATTTATAGCTGCAATGTG	0.269												
FSTL5	56884	broad.mit.edu	37	4	162577520	162577520	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:162577520T>C	uc003iqh.2	-	7	1290	c.854A>G	c.(853-855)AAC>AGC	p.N285S	FSTL5_uc003iqi.2_Missense_Mutation_p.N284S|FSTL5_uc010iqv.2_Missense_Mutation_p.N284S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	285	Ig-like 1.					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)		AATAATATTGTTCCTTTTCCA	0.353												
NEK1	4750	broad.mit.edu	37	4	170400581	170400581	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:170400581T>C	uc003isb.1	-	22	2520	c.2028A>G	c.(2026-2028)GTA>GTG	p.V676V	NEK1_uc003isc.1_Silent_p.V632V|NEK1_uc003isd.1_Silent_p.V704V|NEK1_uc003ise.1_Silent_p.V660V|NEK1_uc003isf.1_Silent_p.V607V	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	676					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAGCTGAAGTTACAGAAATAA	0.363												
FAT1	2195	broad.mit.edu	37	4	187509968	187509968	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:187509968G>T	uc003izf.2	-	27	13733	c.13545C>A	c.(13543-13545)CCC>CCA	p.P4515P	FAT1_uc010isn.2_Silent_p.P162P|FAT1_uc003ize.2_Silent_p.P406P	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4515	Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AAGGGGCATGGGGTTCTCTAC	0.517										HNSCC(5;0.00058)		
TRIML2	205860	broad.mit.edu	37	4	189020263	189020263	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:189020263G>T	uc003izl.2	-	4	433	c.397C>A	c.(397-399)CAG>AAG	p.Q133K	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.Q183K|TRIML2_uc011clf.1_Missense_Mutation_p.Q183K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	133	Potential.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTGCGGACCTGTTCAGAAGCC	0.488												
TRIML1	339976	broad.mit.edu	37	4	189061099	189061099	+	Silent	SNP	C	C	T	rs138508820		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:189061099C>T	uc003izm.1	+	1	502	c.387C>T	c.(385-387)AGC>AGT	p.S129S		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	129					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ATCTCTCCAGCGAGGCTGAGG	0.577												
SLC9A3	6550	broad.mit.edu	37	5	477515	477515	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:477515G>A	uc003jbe.2	-	11	1804	c.1692C>T	c.(1690-1692)ACC>ACT	p.T564T	SLC9A3_uc011clx.1_Silent_p.T555T|uc011cly.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	564	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCACGTTGTCGGTGCTGGGGG	0.652												
ZDHHC11	79844	broad.mit.edu	37	5	843740	843740	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:843740C>T	uc011cma.1	-	4	987	c.603G>A	c.(601-603)GTG>GTA	p.V201V	ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_5'Flank|ZDHHC11_uc003jbk.2_5'UTR	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	201						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)			CCGTGCGGAGCACCCCGGGGT	0.637												
SLC6A19	340024	broad.mit.edu	37	5	1216926	1216926	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:1216926G>A	uc003jbw.3	+	8	1095	c.1039G>A	c.(1039-1041)GGG>AGG	p.G347R		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	347	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTCATCAACGGGTTCGACCT	0.652												
MARCH6	10299	broad.mit.edu	37	5	10391770	10391770	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:10391770G>A	uc003jet.1	+	7	876	c.693G>A	c.(691-693)GAG>GAA	p.E231E	MARCH6_uc011cmu.1_Silent_p.E183E|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Silent_p.E126E	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	231	Cytoplasmic (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						aggcagaagaggaggaggagg	0.428												
FBXL7	23194	broad.mit.edu	37	5	15928451	15928451	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:15928451A>G	uc003jfn.1	+	3	1061	c.580A>G	c.(580-582)AGT>GGT	p.S194G		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	194	LRR 1.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CGTAACTGTCAGTGGCTGCAG	0.607												
CDH12	1010	broad.mit.edu	37	5	21783501	21783501	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:21783501C>T	uc010iuc.2	-	8	1817	c.1359G>A	c.(1357-1359)GCG>GCA	p.A453A	CDH12_uc011cno.1_Silent_p.A413A|CDH12_uc003jgk.2_Silent_p.A453A	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	453	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						AATTATACTGCGCAGTGCTTT	0.373										HNSCC(59;0.17)		
CDH10	1008	broad.mit.edu	37	5	24487827	24487827	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:24487827C>T	uc003jgr.1	-	12	2644	c.2312G>A	c.(2311-2313)CGG>CAG	p.R771Q	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	771	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CTTATTAAACCGAGGGCCCCA	0.408										HNSCC(23;0.051)		
TARS	6897	broad.mit.edu	37	5	33461072	33461072	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:33461072T>C	uc003jhy.2	+	12	1611	c.1316T>C	c.(1315-1317)GTA>GCA	p.V439A	TARS_uc011cob.1_Missense_Mutation_p.V427A|TARS_uc010iup.1_Missense_Mutation_p.V380A|TARS_uc011coc.1_Missense_Mutation_p.V460A|TARS_uc003jhz.2_Missense_Mutation_p.V335A|TARS_uc011cod.1_Missense_Mutation_p.V318A	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	439				V -> G (in Ref. 1; AAB04939).	threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	GATTTTGGGGTACTTCATAGG	0.502												
SPEF2	79925	broad.mit.edu	37	5	35659271	35659271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:35659271C>T	uc003jjo.2	+	8	1240	c.1129C>T	c.(1129-1131)CGA>TGA	p.R377*	SPEF2_uc003jjn.1_Nonsense_Mutation_p.R377*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.R377*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	377	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGAAAGACGACTTAAAGA	0.408												
ITGA2	3673	broad.mit.edu	37	5	52379218	52379218	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:52379218G>A	uc003joy.2	+	27	3336	c.3193G>A	c.(3193-3195)GTT>ATT	p.V1065I	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.V989I|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	1065	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTTGAAAGACGTTCACATGAA	0.348												
SKIV2L2	23517	broad.mit.edu	37	5	54711853	54711853	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:54711853A>G	uc003jpy.3	+	25	3130	c.2864A>G	c.(2863-2865)GAG>GGG	p.E955G	SKIV2L2_uc011cqi.1_Missense_Mutation_p.E854G	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	955					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GAAATTGATGAGGAAACTTAT	0.348												
PPWD1	23398	broad.mit.edu	37	5	64865507	64865507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:64865507G>A	uc003jtv.3	+	3	355	c.348G>A	c.(346-348)TGG>TGA	p.W116*	PPWD1_uc011cqv.1_Nonsense_Mutation_p.W86*|PPWD1_uc011cqw.1_5'UTR	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	116	WD 1.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCAAGTTCTGGAAAAAAATAG	0.318												
OCLN	4950	broad.mit.edu	37	5	68800096	68800096	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:68800096C>T	uc003jwu.2	+	2	461	c.25C>T	c.(25-27)CCA>TCA	p.P9S	OCLN_uc003jwv.3_Missense_Mutation_p.P9S	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TCTTGAAAGTCCACCTCCTTA	0.368												
BDP1	55814	broad.mit.edu	37	5	70785231	70785231	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:70785231T>C	uc003kbp.1	+	10	1477	c.1214T>C	c.(1213-1215)GTG>GCG	p.V405A	BDP1_uc003kbn.1_Missense_Mutation_p.V405A|BDP1_uc003kbo.2_Missense_Mutation_p.V405A	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	405	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTGTTTTCAGTGAAAAAAGTT	0.333												
BDP1	55814	broad.mit.edu	37	5	70811960	70811960	+	Silent	SNP	C	C	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:70811960C>G	uc003kbp.1	+	21	4985	c.4722C>G	c.(4720-4722)GGC>GGG	p.G1574G	BDP1_uc003kbo.2_Silent_p.G1574G	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1574					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGTAAGGGGCCGACTTCAGA	0.423												
MCCC2	64087	broad.mit.edu	37	5	70944923	70944923	+	Splice_Site	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:70944923G>T	uc003kbs.3	+	14	1355	c.1217_splice	c.e14-1	p.G406_splice	MCCC2_uc003kbt.3_Splice_Site	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)						leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)	1		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTTTCTCTCAGGATTTATGGT	0.458												
ENC1	8507	broad.mit.edu	37	5	73931829	73931829	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:73931829C>T	uc003kdc.3	-	2	1613	c.482G>A	c.(481-483)TGC>TAC	p.C161Y	ENC1_uc011css.1_Missense_Mutation_p.C88Y	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	161					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CAGCTTGGTGCACTGGTGTGC	0.512												
THBS4	7060	broad.mit.edu	37	5	79375873	79375873	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:79375873A>G	uc003kgh.2	+	21	2980	c.2657A>G	c.(2656-2658)CAG>CGG	p.Q886R	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	886	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGGTTCCTACAGCACAGGCCC	0.582												
VCAN	1462	broad.mit.edu	37	5	82837118	82837118	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:82837118T>C	uc003kii.3	+	8	8652	c.8296T>C	c.(8296-8298)TCT>CCT	p.S2766P	VCAN_uc003kij.3_Missense_Mutation_p.S1779P|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1430P	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2766	GAG-beta.				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)		GCCAGAATTCTCTTCAGGAGC	0.428												
HAPLN1	1404	broad.mit.edu	37	5	82948392	82948392	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:82948392T>G	uc003kim.2	-	2	423	c.352A>C	c.(352-354)AGT>CGT	p.S118R	HAPLN1_uc003kin.2_Missense_Mutation_p.S118R	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	118	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)|skin(1)	5		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TCACTATCACTGCCTCCCTTC	0.428												
RGMB	285704	broad.mit.edu	37	5	98128867	98128867	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:98128867G>A	uc003knc.2	+	5	1249	c.847G>A	c.(847-849)GCC>ACC	p.A283T		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	242					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)		CCTGCCGGCCGCCTTTGTGGA	0.542												
EPB41L4A	64097	broad.mit.edu	37	5	111540160	111540160	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:111540160G>A	uc003kpv.1	-	15	1562	c.1288C>T	c.(1288-1290)CGC>TGC	p.R430C	EPB41L4A_uc003kpp.1_Missense_Mutation_p.R57C	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	430						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GACTTAGTGCGATCACTGGGA	0.512												
ALDH7A1	501	broad.mit.edu	37	5	125903997	125903997	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:125903997G>A	uc003ktx.2	-	9	1017	c.825C>T	c.(823-825)AGC>AGT	p.S275S	ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Silent_p.S302S|ALDH7A1_uc003ktz.2_Silent_p.S302S	NM_001182	NP_001173	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	275	NAD (By similarity).				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			kidney(2)|ovary(1)	3		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCACCTGAGTGCTCCCAGTGA	0.502												
FBN2	2201	broad.mit.edu	37	5	127595417	127595417	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:127595417G>A	uc003kuu.2	-	65	8908	c.8469C>T	c.(8467-8469)CCC>CCT	p.P2823P		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2823					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTGGATGGCGGGCCTTAGTT	0.542												
FBN2	2201	broad.mit.edu	37	5	127714547	127714547	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:127714547C>A	uc003kuu.2	-	12	2079	c.1640G>T	c.(1639-1641)GGA>GTA	p.G547V	FBN2_uc003kuv.2_Missense_Mutation_p.G514V	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	547	EGF-like 7; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACACAATCTCCATTAGTGCA	0.388												
RAPGEF6	51735	broad.mit.edu	37	5	130825260	130825260	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:130825260T>C	uc003kvn.1	-	15	2025	c.1819A>G	c.(1819-1821)ACT>GCT	p.T607A	RAPGEF6_uc003kvp.1_Missense_Mutation_p.T657A|RAPGEF6_uc003kvo.1_Missense_Mutation_p.T607A|RAPGEF6_uc010jdi.1_Missense_Mutation_p.T607A|RAPGEF6_uc010jdj.1_Missense_Mutation_p.T607A|RAPGEF6_uc003kvq.2_Missense_Mutation_p.T324A|RAPGEF6_uc003kvr.2_Missense_Mutation_p.T607A|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.T607A	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	607	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTCTTCACAGTAAGTGCAAGA	0.294												
CDKL3	51265	broad.mit.edu	37	5	133541779	133541779	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:133541779C>T	uc011cxm.1	-	10	1271	c.1184G>A	c.(1183-1185)CGA>CAA	p.R395Q	CDKL3_uc011cxn.1_RNA|PPP2CA_uc003kze.2_Missense_Mutation_p.R49Q	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	588						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACTGGACATCGAACCTCTTG	0.373												
SEC24A	10802	broad.mit.edu	37	5	133997147	133997147	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:133997147G>A	uc003kzs.2	+	2	724	c.436G>A	c.(436-438)GCC>ACC	p.A146T	SEC24A_uc011cxu.1_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	146	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCATCCACAGCCTCACAAAC	0.423												
LOC153328	153328	broad.mit.edu	37	5	135188361	135188361	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:135188361G>A	uc003laz.1	+	4	444	c.272G>A	c.(271-273)CGC>CAC	p.R91H	LOC153328_uc003lba.2_Missense_Mutation_p.R91H			Q6ZT89	S2548_HUMAN	RecName: Full=Putative mitochondrial carrier protein FLJ44862;	91					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCCAGCACCGCTGCGGGGAG	0.657												
BRD8	10902	broad.mit.edu	37	5	137507779	137507779	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:137507779C>T	uc003lcf.1	-	3	216	c.161G>A	c.(160-162)CGC>CAC	p.R54H	BRD8_uc003lcc.1_RNA|BRD8_uc003lcg.2_Missense_Mutation_p.R54H|BRD8_uc003lci.2_Missense_Mutation_p.R54H|BRD8_uc003lch.2_5'UTR|BRD8_uc011cym.1_Missense_Mutation_p.R38H|BRD8_uc010jer.1_Missense_Mutation_p.R23H|BRD8_uc011cyn.1_Intron|BRD8_uc010jes.1_Intron	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	54					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTCTGGAGGGCGGCCAGGTTC	0.453												
PSD2	84249	broad.mit.edu	37	5	139217239	139217239	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:139217239G>A	uc003leu.1	+	12	1900	c.1695G>A	c.(1693-1695)TCG>TCA	p.S565S		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	565	PH.				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)			AAGCTCTATCGGAGGGTGACC	0.597												
NRG2	9542	broad.mit.edu	37	5	139260469	139260469	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:139260469G>A	uc003lex.1	-	3	1188	c.963C>T	c.(961-963)ACC>ACT	p.T321T	NRG2_uc003lev.1_Silent_p.T321T|NRG2_uc003lew.1_Silent_p.T321T|NRG2_uc003ley.1_Silent_p.T321T	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	321	Ig-like C2-type.|Extracellular (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCCGGACGGTGTCCTTCC	0.622												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139905605	139905605	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:139905605C>G	uc003lfs.1	+	26	4641	c.4517C>G	c.(4516-4518)CCT>CGT	p.P1506R	ANKHD1_uc003lfr.2_Missense_Mutation_p.P1506R|ANKHD1_uc003lfu.1_Missense_Mutation_p.P986R|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P245R|ANKHD1_uc003lfw.2_Missense_Mutation_p.P144R|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1506						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCATAGAACCTCCTAGTGCA	0.383												
HARS	3035	broad.mit.edu	37	5	140056939	140056939	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140056939G>A	uc003lgv.2	-	8	878	c.796C>T	c.(796-798)CGC>TGC	p.R266C	HARS_uc003lgu.2_Missense_Mutation_p.R197C|HARS_uc011czm.1_Missense_Mutation_p.R226C|HARS_uc003lgw.2_Missense_Mutation_p.R246C|HARS_uc011czn.1_Missense_Mutation_p.R206C|HARS_uc010jfu.2_Missense_Mutation_p.R266C|HARS_uc011czo.1_Missense_Mutation_p.R192C|HARS_uc011czp.1_Missense_Mutation_p.R152C|HARS_uc011czq.1_Missense_Mutation_p.R156C	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	266					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)	TCCCCAATGCGGTCAGCCACC	0.572												
PCDHA1	56147	broad.mit.edu	37	5	140167397	140167397	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140167397G>A	uc003lhb.2	+	1	1522	c.1522G>A	c.(1522-1524)GTG>ATG	p.V508M	PCDHA1_uc003lha.2_Missense_Mutation_p.V508M|PCDHA1_uc003lgz.2_Missense_Mutation_p.V508M	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	508	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGAACTACGTGTCAGTGCA	0.687												
PCDHA2	56146	broad.mit.edu	37	5	140176708	140176708	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140176708C>T	uc003lhd.2	+	1	2265	c.2159C>T	c.(2158-2160)GCG>GTG	p.A720V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A720V|PCDHA2_uc011czy.1_Missense_Mutation_p.A720V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	720	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTACACTGCGCTGCGGTGC	0.662												
PCDHA3	56145	broad.mit.edu	37	5	140182372	140182372	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140182372G>A	uc003lhf.2	+	1	1590	c.1590G>A	c.(1588-1590)CTG>CTA	p.L530L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.L530L	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	530	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTAGAGCTGCTGCAGTTCC	0.692												
PCDHA7	56141	broad.mit.edu	37	5	140215088	140215088	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140215088G>A	uc003lhq.2	+	1	1120	c.1120G>A	c.(1120-1122)GTG>ATG	p.V374M	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_Missense_Mutation_p.V374M	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	374	Cadherin 4.|Extracellular (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)			ATTGATTAGCGTGTTTGACCG	0.493												
PCDHA13	56136	broad.mit.edu	37	5	140262306	140262306	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140262306A>G	uc003lif.2	+	1	453	c.453A>G	c.(451-453)CGA>CGG	p.R151R	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.R151R|PCDHA13_uc003lid.2_Silent_p.R151R	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	151	Extracellular (Potential).|Cadherin 2.				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)			CGGAAACTCGATTTCCACTAG	0.463												
PCDHA13	56136	broad.mit.edu	37	5	140263716	140263716	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140263716G>A	uc003lif.2	+	1	1863	c.1863G>A	c.(1861-1863)CCG>CCA	p.P621P	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.P621P|PCDHA13_uc003lid.2_Silent_p.P621P	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	621	Cadherin 6.|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)			CGCGCATCCCGTTCCGCGTGG	0.682												
PCDHB3	56132	broad.mit.edu	37	5	140482221	140482221	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140482221T>C	uc003lio.2	+	1	1988	c.1988T>C	c.(1987-1989)GTG>GCG	p.V663A	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	663	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTCCTGGTGGACGGCTTC	0.701												
PCDHB5	26167	broad.mit.edu	37	5	140516339	140516339	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140516339C>T	uc003liq.2	+	1	1540	c.1323C>T	c.(1321-1323)TCC>TCT	p.S441S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	441	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTCTCCGACGTCAATG	0.587												
PCDHB5	26167	broad.mit.edu	37	5	140516436	140516436	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140516436G>A	uc003liq.2	+	1	1637	c.1420G>A	c.(1420-1422)GCC>ACC	p.A474T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	474	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTGTCAGCGCCACAGACAG	0.642												
PCDHB6	56130	broad.mit.edu	37	5	140530736	140530736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140530736C>T	uc003lir.2	+	1	898	c.898C>T	c.(898-900)CGG>TGG	p.R300W	PCDHB6_uc011dah.1_Missense_Mutation_p.R164W	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	300	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGAAATTCGGCTGAGAAA	0.443												
PCDHB6	56130	broad.mit.edu	37	5	140531711	140531711	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140531711G>A	uc003lir.2	+	1	1873	c.1873G>A	c.(1873-1875)GCC>ACC	p.A625T	PCDHB6_uc011dah.1_Missense_Mutation_p.A489T	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	625	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCGCACCGCCAGGCTGCT	0.687												
PCDHB12	56124	broad.mit.edu	37	5	140590139	140590139	+	Missense_Mutation	SNP	G	G	A	rs145232861	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140590139G>A	uc003liz.2	+	1	1849	c.1660G>A	c.(1660-1662)GCC>ACC	p.A554T	PCDHB12_uc011dak.1_Missense_Mutation_p.A217T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	554	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.711												
PCDHB13	56123	broad.mit.edu	37	5	140594674	140594675	+	Missense_Mutation	DNP	AC	AC	GG	rs114453992	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140594674_140594675AC>GG	uc003lja.1	+	1	1166_1167	c.979_980AC>GG	c.(979-981)ACC>GGC	p.T327G		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	327	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGATGCTGGAACCTTTTCTGGA	0.406												
PCDHGA2	56113	broad.mit.edu	37	5	140720214	140720214	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140720214C>T	uc003ljk.1	+	1	1861	c.1676C>T	c.(1675-1677)GCG>GTG	p.A559V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.A559V	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	559	Extracellular (Potential).|Cadherin 5.				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)			AACGACAACGCGCCCGAGATC	0.622												
PCDHGA6	56109	broad.mit.edu	37	5	140755320	140755320	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140755320A>G	uc003ljy.1	+	1	1670	c.1670A>G	c.(1669-1671)GAC>GGC	p.D557G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.D557G	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	557	Extracellular (Potential).|Cadherin 5.				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)			GACCAGAATGACAATGCGCCC	0.642												
PCDHGB4	8641	broad.mit.edu	37	5	140768971	140768971	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140768971C>T	uc003lkc.1	+	1	1520	c.1520C>T	c.(1519-1521)GCG>GTG	p.A507V	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_uc011dav.1_Missense_Mutation_p.A507V	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	507	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|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)			TCCATAAGCGCGGAGAGCGGG	0.657												
PCDHGB5	56101	broad.mit.edu	37	5	140779318	140779318	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140779318G>A	uc003lkf.1	+	1	1624	c.1624G>A	c.(1624-1626)GTG>ATG	p.V542M	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_uc011daw.1_Missense_Mutation_p.V542M	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	542	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)			CAGCGCAAACGTGAGCCTGCG	0.672												
PCDHGA11	56105	broad.mit.edu	37	5	140802536	140802536	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140802536G>A	uc003lkq.1	+	1	2000	c.1742G>A	c.(1741-1743)CGC>CAC	p.R581H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R581H|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R581H	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	581	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCGCCCCGCTCTGCGGAA	0.637												
PCDHGA11	56105	broad.mit.edu	37	5	140802793	140802793	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140802793G>A	uc003lkq.1	+	1	2257	c.1999G>A	c.(1999-2001)GAC>AAC	p.D667N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.D667N|PCDHGA11_uc003lkp.1_Intron	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	667	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGTGGCCGACAGCATCCC	0.672												
PCDHGC3	5098	broad.mit.edu	37	5	140856568	140856568	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140856568C>T	uc003lkv.1	+	1	1000	c.885C>T	c.(883-885)TTC>TTT	p.F295F	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_uc003lku.1_Silent_p.F295F|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	295	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAACTATTCGCCTTAGACC	0.547												
PCDHGC4	56098	broad.mit.edu	37	5	140866151	140866151	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:140866151G>T	uc003lky.1	+	1	1411	c.1411G>T	c.(1411-1413)GGG>TGG	p.G471W	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_uc011dbb.1_Missense_Mutation_p.G471W|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	471	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATCGCCCAGGGGACCTGCT	0.488												
SPINK5	11005	broad.mit.edu	37	5	147494018	147494018	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:147494018C>A	uc003lox.2	+	21	2054	c.1981C>A	c.(1981-1983)CAT>AAT	p.H661N	SPINK5_uc010jgs.1_Missense_Mutation_p.H633N|SPINK5_uc010jgr.2_Missense_Mutation_p.H642N|SPINK5_uc003low.2_Missense_Mutation_p.H661N|SPINK5_uc003loy.2_Missense_Mutation_p.H661N	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	661	Kazal-like 10.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCAAGACCCATGGCAACAA	0.463												
NDST1	3340	broad.mit.edu	37	5	149900963	149900963	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:149900963G>A	uc003lsk.3	+	2	649	c.147G>A	c.(145-147)GCG>GCA	p.A49A	NDST1_uc011dcj.1_Silent_p.A49A|NDST1_uc003lsl.2_Silent_p.A49A	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	49	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCTCGGCGGATGCCCCCG	0.652												
FAT2	2196	broad.mit.edu	37	5	150885514	150885514	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:150885514C>T	uc003lue.3	-	23	12675	c.12662G>A	c.(12661-12663)GGC>GAC	p.G4221D	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.G828D	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4221	Cytoplasmic (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCATAGAGGCCATTAGGCTC	0.612												
MRPL22	29093	broad.mit.edu	37	5	154346297	154346297	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:154346297G>A	uc003lvy.3	+	7	499	c.461G>A	c.(460-462)GGC>GAC	p.G154D	MRPL22_uc003lvz.3_Missense_Mutation_p.G74D	NM_014180	NP_054899	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22 isoform a	154					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGCTACCATGGCAGAGGTCGC	0.502												
LCP2	3937	broad.mit.edu	37	5	169693822	169693822	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:169693822G>T	uc003man.1	-	10	969	c.762C>A	c.(760-762)CCC>CCA	p.P254P	LCP2_uc011des.1_Silent_p.P49P|LCP2_uc011det.1_Silent_p.P83P|LCP2_uc010jjo.1_Silent_p.P61P	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	254					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)		CTAGTGTGAAGGGTTCTCTAT	0.368												
RANBP17	64901	broad.mit.edu	37	5	170346619	170346619	+	Splice_Site	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:170346619T>C	uc003mba.2	+	11	1290	c.1274_splice	c.e11+2	p.R425_splice	RANBP17_uc003max.1_Splice_Site|RANBP17_uc003may.1_Splice_Site|RANBP17_uc003maz.1_Splice_Site|RANBP17_uc010jjr.1_Splice_Site	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17						mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTTGTGAGGTATTCAAAAAC	0.294			T	TRD@	ALL							
CPEB4	80315	broad.mit.edu	37	5	173376544	173376544	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:173376544C>A	uc003mcs.3	+	6	2896	c.1490C>A	c.(1489-1491)CCT>CAT	p.P497H	CPEB4_uc010jju.1_Missense_Mutation_p.P472H|CPEB4_uc010jjv.2_Missense_Mutation_p.P480H|CPEB4_uc011dfg.1_Missense_Mutation_p.P472H|CPEB4_uc003mct.3_Missense_Mutation_p.P107H|CPEB4_uc003mcu.3_Missense_Mutation_p.P90H	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	497	RRM 1.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCTTTGGCCCTCTGATTGTG	0.303												
FGFR4	2264	broad.mit.edu	37	5	176518804	176518804	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:176518804T>C	uc003mfl.2	+	6	889	c.722T>C	c.(721-723)GTG>GCG	p.V241A	FGFR4_uc003mfm.2_Missense_Mutation_p.V241A|FGFR4_uc011dfu.1_Missense_Mutation_p.V241A|FGFR4_uc011dfw.1_Missense_Mutation_p.V241A|FGFR4_uc003mfo.2_Missense_Mutation_p.V241A	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	241	Extracellular (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	CTGCTAGATGTGCTGGGTGAG	0.612										TSP Lung(9;0.080)		
ADAMTS2	9509	broad.mit.edu	37	5	178541286	178541286	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:178541286A>G	uc003mjw.2	-	22	3218	c.3218T>C	c.(3217-3219)ATG>ACG	p.M1073T	uc003mjv.3_5'Flank	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1073	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAAGACTTCCATCCTACAGAA	0.493												
TBC1D9B	23061	broad.mit.edu	37	5	179290791	179290791	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:179290791C>G	uc003mlh.2	-	22	3447	c.3410G>C	c.(3409-3411)GGC>GCC	p.G1137A	TBC1D9B_uc003mli.2_Missense_Mutation_p.G1120A|TBC1D9B_uc003mlj.2_Missense_Mutation_p.G1119A|TBC1D9B_uc003mlf.2_Missense_Mutation_p.G211A|TBC1D9B_uc003mlg.2_Missense_Mutation_p.G296A|TBC1D9B_uc011dgv.1_Missense_Mutation_p.G296A	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1137						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGGGTGAGCCCTGTCCCTC	0.622												
FOXF2	2295	broad.mit.edu	37	6	1390484	1390484	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:1390484C>T	uc003mtm.2	+	1	416	c.302C>T	c.(301-303)CCG>CTG	p.P101L	FOXF2_uc003mtn.2_Missense_Mutation_p.P101L	NM_001452	NP_001443	Q12947	FOXF2_HUMAN	forkhead box F2	101	Fork-head.				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CCCGAGAAGCCGCCCTACTCG	0.532												
BMP6	654	broad.mit.edu	37	6	7727443	7727443	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:7727443G>A	uc003mxu.3	+	1	433	c.255G>A	c.(253-255)TCG>TCA	p.S85S		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	85					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					AGATCTTGTCGGTGCTGGGGC	0.617												
HIVEP1	3096	broad.mit.edu	37	6	12121648	12121648	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:12121648T>A	uc003nac.2	+	4	1799	c.1620T>A	c.(1618-1620)AAT>AAA	p.N540K	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	540					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCCAGAAAATGTGATAGGTG	0.458												
JARID2	3720	broad.mit.edu	37	6	15513182	15513182	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:15513182A>G	uc003nbj.2	+	15	3416	c.3172A>G	c.(3172-3174)ATG>GTG	p.M1058V	JARID2_uc011div.1_Missense_Mutation_p.M886V	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1058					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCCATTCTCCATGGAGAAGTT	0.463												
RBM24	221662	broad.mit.edu	37	6	17292179	17292179	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:17292179C>A	uc003nbz.3	+	4	544	c.540C>A	c.(538-540)GCC>GCA	p.A180A	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Silent_p.A122A|RBM24_uc003nca.2_Silent_p.A135A|RBM24_uc011diy.1_Missense_Mutation_p.P94H|RBM24_uc011diz.1_Missense_Mutation_p.P79H	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	180	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CCTATGCAGCCTCTCCAGCTG	0.433												
GPLD1	2822	broad.mit.edu	37	6	24436912	24436912	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:24436912C>T	uc003ned.1	-	22	2361	c.2250G>A	c.(2248-2250)CTG>CTA	p.L750L		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	750	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						CTCCCCCAATCAGTCCAGAGG	0.453												
HIST1H2AA	221613	broad.mit.edu	37	6	25726456	25726456	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:25726456G>A	uc003nfc.2	-	1	335	c.300C>T	c.(298-300)GGC>GGT	p.G100G	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	100					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CAATGGTCACGCCGCCCAAAA	0.522												
BTN2A2	10385	broad.mit.edu	37	6	26385502	26385502	+	Silent	SNP	C	C	T	rs143017993		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:26385502C>T	uc003nhq.2	+	3	440	c.354C>T	c.(352-354)AAC>AAT	p.N118N	BTN2A2_uc011dkf.1_Intron|BTN2A2_uc011dkg.1_Silent_p.N118N|BTN2A2_uc003nhr.2_Intron|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Silent_p.N118N|BTN2A2_uc003nht.2_Silent_p.N118N	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	118	Extracellular (Potential).|Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						TCATACATAACGTCACAGCCC	0.552												
BTN2A1	11120	broad.mit.edu	37	6	26463679	26463679	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:26463679C>A	uc003nib.1	+	4	850	c.638C>A	c.(637-639)TCT>TAT	p.S213Y	BTN2A1_uc003nic.1_Missense_Mutation_p.S213Y|BTN2A1_uc003nid.1_Missense_Mutation_p.S61Y|BTN2A1_uc011dko.1_Missense_Mutation_p.S152Y|BTN2A1_uc010jqk.1_5'Flank	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	213	Extracellular (Potential).				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						AGAGACAAGTCTGTGAGGAAC	0.532												
TRIM39	56658	broad.mit.edu	37	6	30297398	30297398	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:30297398C>T	uc010jrz.2	+	3	616	c.304C>T	c.(304-306)CGG>TGG	p.R102W	HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Missense_Mutation_p.R102W|TRIM39_uc003nqb.2_Missense_Mutation_p.R102W|TRIM39_uc003nqc.2_Missense_Mutation_p.R102W|TRIM39_uc010jsa.1_Missense_Mutation_p.R102W	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	102	B box-type.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						GCGGAAGATCCGGGATGAGAG	0.552												
DDR1	780	broad.mit.edu	37	6	30858775	30858775	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:30858775A>G	uc003nrr.2	+	6	702	c.443A>G	c.(442-444)GAG>GGG	p.E148G	DDR1_uc010jse.2_Missense_Mutation_p.E148G|DDR1_uc003nrq.2_Missense_Mutation_p.E148G|DDR1_uc003nrs.2_Missense_Mutation_p.E148G|DDR1_uc003nrt.2_Missense_Mutation_p.E148G|DDR1_uc011dms.1_Missense_Mutation_p.E166G|DDR1_uc011dmt.1_Missense_Mutation_p.E174G|DDR1_uc003nru.2_Missense_Mutation_p.E148G|DDR1_uc011dmu.1_Missense_Mutation_p.E148G|DDR1_uc003nrv.2_Missense_Mutation_p.E148G|DDR1_uc003nrw.1_5'Flank|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	148	Extracellular (Potential).|F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	GAGGACCCTGAGGGAGTGGTG	0.632												
APOM	55937	broad.mit.edu	37	6	31625431	31625431	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:31625431G>A	uc003nvl.2	+	5	545	c.472G>A	c.(472-474)GTG>ATG	p.V158M	APOM_uc003nvk.2_Missense_Mutation_p.V86M	NM_019101	NP_061974	O95445	APOM_HUMAN	apolipoprotein M	158					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity				0						CGAAAAGTGTGTGGAGGAATT	0.507												
EHMT2	10919	broad.mit.edu	37	6	31848498	31848498	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:31848498C>T	uc003nxz.1	-	27	3414	c.3404G>A	c.(3403-3405)CGC>CAC	p.R1135H	EHMT2_uc003nxv.1_Missense_Mutation_p.R174H|EHMT2_uc003nxw.1_Missense_Mutation_p.R174H|EHMT2_uc003nxx.1_Missense_Mutation_p.R333H|EHMT2_uc003nxy.1_Missense_Mutation_p.R933H|EHMT2_uc011don.1_Missense_Mutation_p.R1158H|EHMT2_uc003nya.1_Missense_Mutation_p.R1101H|SLC44A4_uc010jti.2_5'Flank|SLC44A4_uc011dom.1_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1135	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GAAGGCGATGCGTGGAAATCG	0.582												
SKIV2L	6499	broad.mit.edu	37	6	31933701	31933701	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:31933701G>T	uc003nyn.1	+	18	2502	c.2113G>T	c.(2113-2115)GGG>TGG	p.G705W	SKIV2L_uc011dou.1_Missense_Mutation_p.G547W|SKIV2L_uc011dov.1_Missense_Mutation_p.G512W	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	705	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						AGGCCGGGCAGGGCGGAGGGG	0.647												
TNXB	7148	broad.mit.edu	37	6	32024393	32024393	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:32024393C>T	uc003nzl.2	-	23	8315	c.8113G>A	c.(8113-8115)GTG>ATG	p.V2705M		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2765	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						ATGGGGCCCACGCGCTGGCCA	0.632												
TNXB	7148	broad.mit.edu	37	6	32035489	32035489	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:32035489C>T	uc003nzl.2	-	18	6695	c.6493G>A	c.(6493-6495)GGC>AGC	p.G2165S		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2237	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TCGTGGAGGCCGTACAGGTGC	0.672												
TAP2	6891	broad.mit.edu	37	6	32797230	32797230	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:32797230C>T	uc003occ.2	-	10	1910	c.1879G>A	c.(1879-1881)GTC>ATC	p.V627I	TAP2_uc011dqf.1_Missense_Mutation_p.V627I|TAP2_uc003ocb.1_Missense_Mutation_p.V627I|TAP2_uc003ocd.2_Missense_Mutation_p.V627I	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	627	ABC transporter.|Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						AGGATGAGGACCCGCGGGTCT	0.617												
RGL2	5863	broad.mit.edu	37	6	33264534	33264534	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:33264534C>T	uc003odv.2	-	4	393	c.260G>A	c.(259-261)CGT>CAT	p.R87H	RGL2_uc003odu.2_5'Flank|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Missense_Mutation_p.R5H|RGL2_uc011drb.1_Missense_Mutation_p.R5H	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	87					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						TCGGGAGGAACGTGGGGGAGG	0.577												
TAPBP	6892	broad.mit.edu	37	6	33281536	33281536	+	Missense_Mutation	SNP	C	C	T	rs145263363		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:33281536C>T	uc003odx.1	-	2	314	c.143G>A	c.(142-144)CGC>CAC	p.R48H	TAPBP_uc010jus.1_Missense_Mutation_p.R48H|TAPBP_uc003ody.2_Missense_Mutation_p.R48H|TAPBP_uc003odz.2_Missense_Mutation_p.R48H|TAPBP_uc010jut.1_Missense_Mutation_p.R48H|TAPBP_uc011drc.1_Missense_Mutation_p.R48H	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	48	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						CGGTCCCTGGCGCAACAGCAG	0.677												
ANKS1A	23294	broad.mit.edu	37	6	34953019	34953019	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:34953019T>C	uc003ojx.3	+	8	1315	c.1173T>C	c.(1171-1173)GCT>GCC	p.A391A	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	391						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						ACAAGGAGGCTGAGGCAGCAG	0.597												
PI16	221476	broad.mit.edu	37	6	36927008	36927008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:36927008G>A	uc003ona.2	+	2	587	c.259G>A	c.(259-261)GAG>AAG	p.E87K	PI16_uc003omz.1_Missense_Mutation_p.E87K|PI16_uc003onb.2_Missense_Mutation_p.E87K|PI16_uc011dts.1_5'Flank	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	87	Extracellular (Potential).					extracellular region|integral to membrane	peptidase inhibitor activity				0						GCGCCGCGGCGAGAATCTGTT	0.677												
DNAH8	1769	broad.mit.edu	37	6	38843448	38843448	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:38843448G>A	uc003ooe.1	+	51	7651	c.7051G>A	c.(7051-7053)GTG>ATG	p.V2351M		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TAAATTATTTGTGTTTGGCCT	0.408												
GPR116	221395	broad.mit.edu	37	6	46874435	46874435	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:46874435G>A	uc003oyo.3	-	2	354	c.65C>T	c.(64-66)GCA>GTA	p.A22V	GPR116_uc003oyp.3_Missense_Mutation_p.A22V|GPR116_uc003oyq.3_Missense_Mutation_p.A22V|GPR116_uc003oyr.2_Missense_Mutation_p.A22V|uc003oys.2_Intron	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	22	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			CCAGTTCAGTGCAGCTTTGGA	0.373												
TNFRSF21	27242	broad.mit.edu	37	6	47221045	47221045	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:47221045G>A	uc003oyv.2	-	4	1889	c.1456C>T	c.(1456-1458)CGG>TGG	p.R486W		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	486	Cytoplasmic (Potential).|Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			TCGTTTCTCCGGTGCTGGCGC	0.617												
TINAG	27283	broad.mit.edu	37	6	54208055	54208055	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:54208055A>C	uc003pcj.2	+	5	802	c.656A>C	c.(655-657)GAG>GCG	p.E219A	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	219					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GATCTTCCAGAGTTTTTTGTT	0.393												
COL12A1	1303	broad.mit.edu	37	6	75798830	75798830	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:75798830C>G	uc003phs.2	-	64	9168	c.9002G>C	c.(9001-9003)GGC>GCC	p.G3001A	COL12A1_uc003pht.2_Missense_Mutation_p.G1837A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	3001	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ACCTGGGGGGCCAGGCAGCCC	0.473												
TBX18	9096	broad.mit.edu	37	6	85472390	85472390	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:85472390C>T	uc003pkl.1	-	2	369	c.369G>A	c.(367-369)GCG>GCA	p.A123A	TBX18_uc010kbq.1_5'UTR	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	123					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCAGGGAGCGCGCCGGAGACC	0.697												
ZNF292	23036	broad.mit.edu	37	6	87970632	87970632	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:87970632C>T	uc003plm.3	+	8	7326	c.7285C>T	c.(7285-7287)CGG>TGG	p.R2429W		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGTATTCAAACGGTGTTGCAA	0.348												
CNR1	1268	broad.mit.edu	37	6	88854674	88854674	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:88854674C>A	uc011dzq.1	-	2	3883	c.320G>T	c.(319-321)TGT>TTT	p.C107F	CNR1_uc010kbz.2_Missense_Mutation_p.C107F|CNR1_uc011dzr.1_Missense_Mutation_p.C107F|CNR1_uc011dzs.1_Missense_Mutation_p.C107F|CNR1_uc003pmq.3_Missense_Mutation_p.C107F|CNR1_uc011dzt.1_Missense_Mutation_p.C107F|CNR1_uc010kca.2_Missense_Mutation_p.C74F	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	107	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GACCATGAAACACTCTATGTC	0.532												
GABRR2	2570	broad.mit.edu	37	6	90024932	90024932	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:90024932C>T	uc003pnb.2	-	1	36	c.28G>A	c.(28-30)GCC>ACC	p.A10T		NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	10					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				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TAGCCTGTGGCAGAGCAAATC	0.517												
ANKRD6	22881	broad.mit.edu	37	6	90312801	90312801	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:90312801C>T	uc003pni.3	+	4	614	c.273C>T	c.(271-273)ATC>ATT	p.I91I	ANKRD6_uc003pne.3_Silent_p.I91I|ANKRD6_uc003pnf.3_Silent_p.I91I|ANKRD6_uc011dzy.1_Silent_p.I91I|ANKRD6_uc010kcd.2_Silent_p.I91I|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_RNA|ANKRD6_uc003pnh.3_5'UTR	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	91	ANK 3.						protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CGGAGATCATCGCGGCGCTCA	0.612												
MDN1	23195	broad.mit.edu	37	6	90396626	90396626	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:90396626T>C	uc003pnn.1	-	69	11683	c.11567A>G	c.(11566-11568)CAG>CGG	p.Q3856R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3856					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATTACCTTCCTGTTCTTCTGT	0.488												
MDN1	23195	broad.mit.edu	37	6	90449993	90449993	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:90449993A>G	uc003pnn.1	-	32	4669	c.4553T>C	c.(4552-4554)CTA>CCA	p.L1518P		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1518					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATGGTTGCTAGAATACGAAA	0.413												
ZUFSP	221302	broad.mit.edu	37	6	116988046	116988046	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:116988046C>T	uc003pxf.1	-	2	556	c.310G>A	c.(310-312)GCT>ACT	p.A104T	ZUFSP_uc010kef.1_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	104						intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGGTTTTGAGCTGAATTTTTT	0.343												
C6orf170	221322	broad.mit.edu	37	6	121642917	121642917	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:121642917C>T	uc003pyo.1	-	2	247	c.179G>A	c.(178-180)AGG>AAG	p.R60K	C6orf170_uc003pyq.1_RNA	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	60					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		TATATGCTGCCTGAGGTATTT	0.338												
MOXD1	26002	broad.mit.edu	37	6	132695778	132695778	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:132695778T>G	uc003qdf.2	-	2	502	c.403A>C	c.(403-405)AGT>CGT	p.S135R	MOXD1_uc003qde.2_Missense_Mutation_p.S67R	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	135	Lumenal (Potential).|DOMON.				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)		ACCGTTATACTCTTGTCATTT	0.343												
NMBR	4829	broad.mit.edu	37	6	142399736	142399736	+	Missense_Mutation	SNP	C	C	T	rs147317413	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:142399736C>T	uc003qiu.2	-	2	868	c.727G>A	c.(727-729)GCA>ACA	p.A243T		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	243	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AGATTGTGTGCGCTTTTAATT	0.358												
HIVEP2	3097	broad.mit.edu	37	6	143091558	143091558	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:143091558G>A	uc003qjd.2	-	5	5061	c.4318C>T	c.(4318-4320)CGA>TGA	p.R1440*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAAAGCATTCGCTTGCTACCT	0.517												
PHACTR2	9749	broad.mit.edu	37	6	144128231	144128231	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:144128231C>A	uc003qjq.3	+	12	1980	c.1850C>A	c.(1849-1851)ACA>AAA	p.T617K	PHACTR2_uc010khh.2_Missense_Mutation_p.T537K|PHACTR2_uc010khi.2_Missense_Mutation_p.T628K|PHACTR2_uc003qjr.3_Missense_Mutation_p.T548K	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	617							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTTAAAAGCACAGAAATGGAA	0.333												
PHACTR2	9749	broad.mit.edu	37	6	144144816	144144816	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:144144816A>G	uc003qjq.3	+	13	2025	c.1895A>G	c.(1894-1896)CAT>CGT	p.H632R	PHACTR2_uc010khh.2_Missense_Mutation_p.H552R|PHACTR2_uc010khi.2_Missense_Mutation_p.H643R|PHACTR2_uc003qjr.3_Missense_Mutation_p.H563R	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	632							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCAGGTTTCATCGTCCATAA	0.433												
LATS1	9113	broad.mit.edu	37	6	150001447	150001447	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:150001447G>A	uc003qmu.1	-	5	2705	c.2157C>T	c.(2155-2157)GTC>GTT	p.V719V	LATS1_uc010kif.1_Silent_p.V614V|LATS1_uc003qmv.1_Silent_p.V719V	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	719	ATP (By similarity).|Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.V719I(1)		lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTGCTAGACAGACTTCACCAA	0.368												
NUP43	348995	broad.mit.edu	37	6	150067127	150067127	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:150067127G>A	uc003qmz.2	-	2	249	c.192C>T	c.(190-192)GAC>GAT	p.D64D	NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Silent_p.D64D	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	64					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			upper_aerodigestive_tract(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ATAACTGATGGTCTCCTTCAA	0.363												
SYNE1	23345	broad.mit.edu	37	6	152652598	152652598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:152652598C>T	uc010kiw.2	-	78	13824	c.13222G>A	c.(13222-13224)GCA>ACA	p.A4408T	SYNE1_uc003qot.3_Missense_Mutation_p.A4337T|SYNE1_uc003qou.3_Missense_Mutation_p.A4408T|SYNE1_uc010kiz.2_Missense_Mutation_p.A163T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4408	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCCTGTCTGCGTCCTTTATA	0.512										HNSCC(10;0.0054)		
SLC22A1	6580	broad.mit.edu	37	6	160543354	160543354	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:160543354G>A	uc003qtc.2	+	1	492	c.387G>A	c.(385-387)ACG>ACA	p.T129T	SLC22A1_uc003qtd.2_Silent_p.T129T	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	129	Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TGTATGACACGCCCGGCTCTT	0.562												
MAP3K4	4216	broad.mit.edu	37	6	161470396	161470396	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:161470396A>G	uc003qtn.2	+	3	1234	c.1092A>G	c.(1090-1092)ATA>ATG	p.I364M	MAP3K4_uc010kkc.1_Missense_Mutation_p.I364M|MAP3K4_uc003qto.2_Missense_Mutation_p.I364M|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Translation_Start_Site	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	364					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TAGAGTACATAGAAGCACTTT	0.438												
QKI	9444	broad.mit.edu	37	6	163984517	163984517	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:163984517C>T	uc003qui.2	+	6	1251	c.700C>T	c.(700-702)CCG>TCG	p.P234S	QKI_uc003que.2_Missense_Mutation_p.P234S|QKI_uc003quf.2_Missense_Mutation_p.P234S|QKI_uc003qug.2_Missense_Mutation_p.P234S|QKI_uc003quh.2_Missense_Mutation_p.P226S|QKI_uc003quj.2_Missense_Mutation_p.P226S	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	234					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGGGCCTGCGCCGGTTCTCCC	0.522												
C6orf118	168090	broad.mit.edu	37	6	165715680	165715680	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:165715680A>G	uc003qum.3	-	2	167	c.131T>C	c.(130-132)CTT>CCT	p.L44P	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	44											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)		CCGATTCAGAAGTTTCTTCAG	0.537												
FRMD1	79981	broad.mit.edu	37	6	168467457	168467457	+	Missense_Mutation	SNP	C	C	T	rs151107075		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:168467457C>T	uc003qwo.3	-	4	504	c.439G>A	c.(439-441)GTG>ATG	p.V147M	FRMD1_uc003qwm.3_5'Flank|FRMD1_uc011egs.1_Translation_Start_Site|FRMD1_uc011egt.1_Missense_Mutation_p.V59M|FRMD1_uc003qwn.3_Missense_Mutation_p.V79M	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1	147	FERM.					cytoskeleton	binding			ovary(1)	1		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)		CCGTTTTCCACGTAGTGCTGC	0.547												
WDR27	253769	broad.mit.edu	37	6	170036601	170036601	+	Splice_Site	SNP	C	C	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:170036601C>G	uc003qwx.2	-	19	2390	c.1870_splice	c.e19-1	p.G624_splice	WDR27_uc003qwv.1_Intron|WDR27_uc010kkw.1_Splice_Site_p.G624_splice|WDR27_uc003qwy.2_Splice_Site_p.G497_splice			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;											pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TGTCTTTGCCCTGTAATGCAA	0.303												
FAM120B	84498	broad.mit.edu	37	6	170627688	170627688	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:170627688T>C	uc003qxp.2	+	2	1318	c.1210T>C	c.(1210-1212)TGT>CGT	p.C404R	FAM120B_uc003qxo.1_Missense_Mutation_p.C404R|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	404					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGTTCCCATGTGTTCAGACCC	0.527												
CARD11	84433	broad.mit.edu	37	7	2949685	2949685	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:2949685T>C	uc003smv.2	-	24	3663	c.3259A>G	c.(3259-3261)AGA>GGA	p.R1087G		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1087	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAGCCCTACCTGAACCTCTTG	0.592			Mis		DLBCL							
DAGLB	221955	broad.mit.edu	37	7	6474614	6474614	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:6474614T>C	uc003sqa.2	-	4	627	c.457A>G	c.(457-459)ATT>GTT	p.I153V	DAGLB_uc011jwt.1_5'Flank|DAGLB_uc011jwu.1_Intron|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.I112V|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	153	Helical; (Potential).				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		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCAAAGACAATGATAATGGAA	0.537												
THSD7A	221981	broad.mit.edu	37	7	11676525	11676525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:11676525C>T	uc003ssf.3	-	2	506	c.254G>A	c.(253-255)TGG>TAG	p.W85*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	85	TSP type-1 1.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGAGCACACCACACAGCCCT	0.478										HNSCC(18;0.044)		
NUPL2	11097	broad.mit.edu	37	7	23235487	23235487	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:23235487A>G	uc003svu.2	+	4	734	c.475A>G	c.(475-477)AGG>GGG	p.R159G	NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Missense_Mutation_p.R36G|NUPL2_uc011jyw.1_Intron|NUPL2_uc003svx.2_Missense_Mutation_p.R36G|NUPL2_uc011jyx.1_5'UTR	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	159	Interaction with HIV-1 Vpr.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			skin(2)|ovary(1)	3						AGAGGAATTGAGGCTTGAATA	0.328												
HOXA9	3205	broad.mit.edu	37	7	27204803	27204803	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:27204803C>T	uc003syt.2	-	1	347	c.274G>A	c.(274-276)GTG>ATG	p.V92M		NM_152739	NP_689952	P31269	HXA9_HUMAN	homeobox A9	92							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2						TGGGGGTGCACGTAGGGGTGG	0.731			T	NUP98|MSI2	AML*							
EPDR1	54749	broad.mit.edu	37	7	37960482	37960482	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:37960482G>A	uc003tfp.2	+	1	320	c.301G>A	c.(301-303)GGA>AGA	p.G101R	EPDR1_uc003tfq.2_Missense_Mutation_p.G101R|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	Error:Variant_position_missing_in_Q9UM22_after_alignment					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						CTCTGATCCCGGACGCCTCAG	0.701												
ZMIZ2	83637	broad.mit.edu	37	7	44804020	44804020	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:44804020C>T	uc003tlr.2	+	14	1986	c.1863C>T	c.(1861-1863)TGC>TGT	p.C621C	ZMIZ2_uc003tlq.2_Silent_p.C563C|ZMIZ2_uc003tls.2_Silent_p.C595C|ZMIZ2_uc003tlt.2_Silent_p.C244C|ZMIZ2_uc010kyj.2_Silent_p.C143C|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	621	SP-RING-type.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CTCTACAGTGCTTTGACCTGG	0.438												
MYO1G	64005	broad.mit.edu	37	7	45006354	45006354	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:45006354G>A	uc003tmh.2	-	15	2010	c.1866C>T	c.(1864-1866)GTC>GTT	p.V622V	MYO1G_uc003tmf.2_Silent_p.V65V|MYO1G_uc003tmg.2_Silent_p.V384V|MYO1G_uc010kym.2_Silent_p.V507V|MYO1G_uc003tmi.1_Silent_p.V534V	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	622	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						CCAGGTATGCGACCTGGTGGC	0.617												
POM121L12	285877	broad.mit.edu	37	7	53103741	53103741	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:53103741G>T	uc003tpz.2	+	1	393	c.377G>T	c.(376-378)CGT>CTT	p.R126L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	126											0						GGGCTGTGTCGTGCCTGGAAC	0.672												
POM121L12	285877	broad.mit.edu	37	7	53103870	53103870	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:53103870T>C	uc003tpz.2	+	1	522	c.506T>C	c.(505-507)CTC>CCC	p.L169P		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	169											0						gcccAGGAGCTCCTGGACCCC	0.582												
SEPT14	346288	broad.mit.edu	37	7	55914312	55914312	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:55914312G>A	uc003tqz.2	-	3	190	c.73C>T	c.(73-75)CGT>TGT	p.R25C		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	25					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTAAACAACGAATATTATTT	0.284												
ASL	435	broad.mit.edu	37	7	65557610	65557610	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:65557610G>A	uc003tuo.2	+	16	1321	c.1210G>A	c.(1210-1212)GCC>ACC	p.A404T	ASL_uc003tup.2_Missense_Mutation_p.A404T|ASL_uc003tur.2_Missense_Mutation_p.A378T|ASL_uc003tuq.2_Missense_Mutation_p.A384T	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	404					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	CAAGGGGGTCGCCCTCAACCA	0.652												
PTPN12	5782	broad.mit.edu	37	7	77236553	77236553	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:77236553G>A	uc003ugh.2	+	9	788	c.697G>A	c.(697-699)GCA>ACA	p.A233T	PTPN12_uc011kgp.1_Missense_Mutation_p.A114T|PTPN12_uc011kgq.1_Missense_Mutation_p.A103T|PTPN12_uc010lds.2_5'UTR	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	233	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						TATCCTTAGTGCAGGCTGTGG	0.294												
PHTF2	57157	broad.mit.edu	37	7	77569913	77569913	+	Silent	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:77569913T>A	uc003ugs.3	+	14	1935	c.1809T>A	c.(1807-1809)CCT>CCA	p.P603P	PHTF2_uc003ugq.3_Silent_p.P565P|PHTF2_uc010ldv.2_Silent_p.P565P|PHTF2_uc003ugt.3_Silent_p.P569P|PHTF2_uc003ugu.3_Silent_p.P565P	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						CTGAGGTTCCTCATTTCCGGT	0.358												
PCLO	27445	broad.mit.edu	37	7	82583831	82583831	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:82583831T>C	uc003uhx.2	-	5	6727	c.6438A>G	c.(6436-6438)GTA>GTG	p.V2146V	PCLO_uc003uhv.2_Silent_p.V2146V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2077					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TATAATCGGTTACATATTCAT	0.413												
PCLO	27445	broad.mit.edu	37	7	82784516	82784516	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:82784516G>T	uc003uhx.2	-	2	1730	c.1441C>A	c.(1441-1443)CCT>ACT	p.P481T	PCLO_uc003uhv.2_Missense_Mutation_p.P481T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGCTGTTGAGGTGGGGGCTTT	0.597												
GRM3	2913	broad.mit.edu	37	7	86416293	86416293	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:86416293C>T	uc003uid.2	+	3	2284	c.1185C>T	c.(1183-1185)AAC>AAT	p.N395N	GRM3_uc010lef.2_Silent_p.N393N|GRM3_uc010leg.2_Silent_p.N267N|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	395	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTGTGGTGAACGCGGTGTATG	0.542												
RUNDC3B	154661	broad.mit.edu	37	7	87329769	87329769	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:87329769C>T	uc003ujb.2	+	4	733	c.322C>T	c.(322-324)CGT>TGT	p.R108C	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.R91C|RUNDC3B_uc011khe.1_Missense_Mutation_p.R91C|RUNDC3B_uc003ujc.2_Missense_Mutation_p.R91C|RUNDC3B_uc003ujd.2_Missense_Mutation_p.R13C	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	108	RUN.									skin(1)	1	Esophageal squamous(14;0.00164)					TGAAAGTCCTCGTAGCTTCTG	0.348												
DLX5	1749	broad.mit.edu	37	7	96653787	96653787	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:96653787G>A	uc003uon.2	-	1	357	c.149C>T	c.(148-150)CCT>CTT	p.P50L	DLX5_uc011kim.1_Missense_Mutation_p.P50L	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	50					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TCCCCCCGTAGGGCTGTAGTA	0.582												
TECPR1	25851	broad.mit.edu	37	7	97860431	97860431	+	Splice_Site	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:97860431C>T	uc003upg.2	-	15	2330	c.2125_splice	c.e15-1	p.L709_splice	TECPR1_uc003uph.1_Splice_Site_p.L639_splice	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1							integral to membrane	protein binding			pancreas(1)	1						GCAGGGCGAGCTGGTGTGGCA	0.612												
TRRAP	8295	broad.mit.edu	37	7	98531020	98531020	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:98531020A>G	uc003upp.2	+	27	4218	c.4009A>G	c.(4009-4011)ACA>GCA	p.T1337A	TRRAP_uc011kis.1_Missense_Mutation_p.T1337A|TRRAP_uc003upr.2_Missense_Mutation_p.T1029A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1337					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGTTCTACACAGAGGTAGG	0.557												
BUD31	8896	broad.mit.edu	37	7	99015149	99015149	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:99015149C>T	uc003uqf.2	+	5	516	c.315C>T	c.(313-315)TGC>TGT	p.C105C	BUD31_uc011kiu.1_Silent_p.C105C|BUD31_uc011kiv.1_Silent_p.C105C|BUD31_uc003uqg.3_Silent_p.C105C	NM_003910	NP_003901	P41223	BUD31_HUMAN	G10 protein	105					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCCTGCGGTGCATTCAGACAC	0.458												
ZAN	7455	broad.mit.edu	37	7	100377177	100377177	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:100377177G>A	uc003uwj.2	+	36	6592	c.6427G>A	c.(6427-6429)GCA>ACA	p.A2143T	ZAN_uc003uwk.2_Missense_Mutation_p.A2143T|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.A230T	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2143	Extracellular (Potential).|VWFD 3.				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)			AAAGTGCGAGGCAGCGCTCCG	0.642												
MUC17	140453	broad.mit.edu	37	7	100684572	100684572	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:100684572C>T	uc003uxp.1	+	3	9928	c.9875C>T	c.(9874-9876)ACG>ATG	p.T3292M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3292	Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.					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)					AGCACCACAACGGTGGCCAGT	0.512												
TRIM56	81844	broad.mit.edu	37	7	100732838	100732838	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:100732838C>T	uc003uxq.2	+	3	2476	c.2245C>T	c.(2245-2247)CGG>TGG	p.R749W	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	749					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					CCACATCTTTCGGGTCCGTTC	0.617												
RELN	5649	broad.mit.edu	37	7	103243938	103243938	+	Splice_Site	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:103243938C>A	uc003vca.2	-	24	3307	c.3147_splice	c.e24-1	p.R1049_splice	RELN_uc010liz.2_Splice_Site_p.R1049_splice	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a						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)		CTGGTCACACCTATGAGAGAG	0.532												
LAMB1	3912	broad.mit.edu	37	7	107566694	107566694	+	Silent	SNP	G	G	T	rs147490680	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:107566694G>T	uc003vew.2	-	32	5333	c.4998C>A	c.(4996-4998)TCC>TCA	p.S1666S	LAMB1_uc003vev.2_Silent_p.S1690S|LAMB1_uc003veu.2_Silent_p.S149S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1666	Potential.|Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCCTCCCCGGAGTTTTGGG	0.428												
LRRN3	54674	broad.mit.edu	37	7	110763653	110763653	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:110763653A>G	uc003vft.3	+	4	1871	c.825A>G	c.(823-825)ATA>ATG	p.I275M	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.I275M|LRRN3_uc003vfs.3_Missense_Mutation_p.I275M	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	275	Extracellular (Potential).|LRR 9.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTAATAGAATACGAAGGGGTG	0.338												
DOCK4	9732	broad.mit.edu	37	7	111368395	111368395	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:111368395C>A	uc003vfx.2	-	52	6105	c.5836G>T	c.(5836-5838)GGG>TGG	p.G1946W	DOCK4_uc011kml.1_Missense_Mutation_p.G827W|DOCK4_uc011kmm.1_Missense_Mutation_p.G815W|DOCK4_uc003vfw.2_Missense_Mutation_p.G1358W|DOCK4_uc003vfy.2_Missense_Mutation_p.G1991W|DOCK4_uc003vfv.2_Missense_Mutation_p.G259W	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1946	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CTCCGGGCCCCATTCTCCAGG	0.667												
ZNF277	11179	broad.mit.edu	37	7	111958267	111958267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:111958267C>T	uc003vge.2	+	5	625	c.496C>T	c.(496-498)CGA>TGA	p.R166*	ZNF277_uc003vgd.2_Nonsense_Mutation_p.R166*|ZNF277_uc003vgf.2_Nonsense_Mutation_p.R88*|ZNF277_uc003vgg.2_Translation_Start_Site	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	zinc finger protein (C2H2 type) 277	166						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(2)	4						GCAGCAAGAACGAAATGATAC	0.323												
C7orf58	79974	broad.mit.edu	37	7	120884391	120884391	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:120884391A>G	uc003vjq.3	+	18	2756	c.2309A>G	c.(2308-2310)AAG>AGG	p.K770R	C7orf58_uc003vjs.3_Missense_Mutation_p.K770R|C7orf58_uc003vjt.3_Missense_Mutation_p.K550R	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	770						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					GGAGGAAGGAAGGTAGGTTCT	0.478												
WNT16	51384	broad.mit.edu	37	7	120979305	120979305	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:120979305G>T	uc003vjw.2	+	4	1261	c.1004G>T	c.(1003-1005)AGG>ATG	p.R335M	WNT16_uc003vjv.2_Missense_Mutation_p.R325M|WNT16_uc010lkl.2_Missense_Mutation_p.R119M	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	335					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			lung(2)|ovary(2)|large_intestine(1)	5	all_neural(327;0.117)					CATGTGGTCAGGCACGTGGAG	0.537												
PTPRZ1	5803	broad.mit.edu	37	7	121652619	121652619	+	Silent	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:121652619A>C	uc003vjy.2	+	12	3914	c.3519A>C	c.(3517-3519)TCA>TCC	p.S1173S	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1173	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ATGAGACCTCAGCTTCTTTTA	0.428												
IQUB	154865	broad.mit.edu	37	7	123101557	123101557	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:123101557G>A	uc003vkn.2	-	11	2438	c.1861C>T	c.(1861-1863)CGC>TGC	p.R621C	IQUB_uc011kny.1_5'UTR|IQUB_uc003vko.2_Missense_Mutation_p.R621C|IQUB_uc010lkt.2_RNA	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	621										ovary(3)|large_intestine(1)	4						CGGTATATGCGGCGTGAGGTG	0.383												
FLNC	2318	broad.mit.edu	37	7	128488744	128488744	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:128488744C>T	uc003vnz.3	+	27	4919	c.4710C>T	c.(4708-4710)GGC>GGT	p.G1570G	FLNC_uc003voa.3_Silent_p.G1570G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1570	Filamin 14.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GGGACGCGGGCGAGGGGTTGC	0.657												
PLXNA4	91584	broad.mit.edu	37	7	132193357	132193357	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:132193357C>T	uc003vra.3	-	2	325	c.96G>A	c.(94-96)CCG>CCA	p.P32P	PLXNA4_uc003vrc.2_Silent_p.P32P|PLXNA4_uc003vrb.2_Silent_p.P32P	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	32	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TCTGGGACAGCGGGGCTGGCT	0.597												
SLC13A4	26266	broad.mit.edu	37	7	135376308	135376308	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:135376308T>C	uc003vta.2	-	12	1995	c.1306A>G	c.(1306-1308)AAA>GAA	p.K436E	SLC13A4_uc003vtb.2_Missense_Mutation_p.K437E|PL-5283_uc003vsz.3_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	436						integral to plasma membrane	sodium:sulfate symporter activity				0						TCATTCTTTTTCCCAAAGCAG	0.458												
CHRM2	1129	broad.mit.edu	37	7	136700051	136700051	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:136700051G>A	uc003vtf.1	+	4	1062	c.439G>A	c.(439-441)GCC>ACC	p.A147T	CHRM2_uc003vtg.1_Missense_Mutation_p.A147T|CHRM2_uc003vtj.1_Missense_Mutation_p.A147T|CHRM2_uc003vtk.1_Missense_Mutation_p.A147T|CHRM2_uc003vtl.1_Missense_Mutation_p.A147T|CHRM2_uc003vtm.1_Missense_Mutation_p.A147T|CHRM2_uc003vti.1_Missense_Mutation_p.A147T|CHRM2_uc003vto.1_Missense_Mutation_p.A147T|CHRM2_uc003vtn.1_Missense_Mutation_p.A147T|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	147	Helical; Name=4; (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GATTGCAGCTGCCTGGGTCCT	0.502												
PARP12	64761	broad.mit.edu	37	7	139746769	139746769	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:139746769A>G	uc003vvl.1	-	5	1775	c.901T>C	c.(901-903)TGG>CGG	p.W301R	PARP12_uc003vvk.1_Missense_Mutation_p.W87R|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	301	WWE 1.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					AAGAATTGCCATCGATACGGC	0.403												
DENND2A	27147	broad.mit.edu	37	7	140267037	140267037	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:140267037A>G	uc010lnj.2	-	7	1773	c.1628T>C	c.(1627-1629)CTG>CCG	p.L543P	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.L543P|DENND2A_uc003vvw.2_Missense_Mutation_p.L543P|DENND2A_uc003vvx.2_Missense_Mutation_p.L543P	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	543										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CGCCTGCTTCAGCCGGGACTT	0.413												
BRAF	673	broad.mit.edu	37	7	140434475	140434475	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:140434475C>A	uc003vwc.3	-	18	2284	c.2223G>T	c.(2221-2223)GAG>GAT	p.E741D		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	741					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GACTAAAATCCTCTGTTTGGA	0.483		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome			
MGAM	8972	broad.mit.edu	37	7	141708379	141708379	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:141708379C>T	uc003vwy.2	+	3	255	c.201C>T	c.(199-201)ACC>ACT	p.T67T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	67	Ser/Thr-rich.|Lumenal (Potential).				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)	CAACTGGTACCACACATGCTA	0.483												
EPHB6	2051	broad.mit.edu	37	7	142561892	142561892	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:142561892C>T	uc011kst.1	+	7	1121	c.334C>T	c.(334-336)CGG>TGG	p.R112W	EPHB6_uc011ksu.1_Missense_Mutation_p.R112W|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	112	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					CTTCTCTGTGCGGGCATGCTC	0.657												
EPHB6	2051	broad.mit.edu	37	7	142562206	142562206	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:142562206G>A	uc011kst.1	+	7	1435	c.648G>A	c.(646-648)ACG>ACA	p.T216T	EPHB6_uc011ksu.1_Silent_p.T216T|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_Intron|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	216	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					TCCAGGACACGGGGGCCTGCC	0.657												
GSTK1	373156	broad.mit.edu	37	7	142962174	142962174	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:142962174G>A	uc003wci.2	+	4	458	c.373G>A	c.(373-375)GTC>ATC	p.V125I	GSTK1_uc011ksy.1_Missense_Mutation_p.V82I|GSTK1_uc003wcj.2_Missense_Mutation_p.V125I|GSTK1_uc011ksz.1_Missense_Mutation_p.V125I	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1 isoform a	125						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity				0	Melanoma(164;0.059)				Glutathione(DB00143)	GTGGATGCGCGTCTGGTCAAG	0.587												
TAS2R41	259287	broad.mit.edu	37	7	143175662	143175662	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:143175662C>A	uc003wdc.1	+	1	697	c.697C>A	c.(697-699)CTG>ATG	p.L233M	uc003wda.2_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	233	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			pancreas(1)|skin(1)	2	Melanoma(164;0.15)					CACCAGAGCTCTGAAGTCCCT	0.478												
CNTNAP2	26047	broad.mit.edu	37	7	147092722	147092722	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:147092722A>T	uc003weu.1	+	10	2036	c.1520A>T	c.(1519-1521)AAC>ATC	p.N507I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	507	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	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)			CAGATGAATAACTCAAGTCAC	0.398										HNSCC(39;0.1)		
SLC4A2	6522	broad.mit.edu	37	7	150765012	150765012	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:150765012T>A	uc003wit.3	+	8	1274	c.1018T>A	c.(1018-1020)TGG>AGG	p.W340R	SLC4A2_uc011kve.1_Missense_Mutation_p.W331R|SLC4A2_uc003wiu.3_Missense_Mutation_p.W326R	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	340	Cytoplasmic (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGCCCCAGTGGCGGGAGAC	0.592												
WDR86	349136	broad.mit.edu	37	7	151093229	151093229	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:151093229C>T	uc003wkb.2	-	3	808	c.359G>A	c.(358-360)CGG>CAG	p.R120Q	WDR86_uc003wka.2_Missense_Mutation_p.R78Q|WDR86_uc011kvk.1_Missense_Mutation_p.R120Q|WDR86_uc003wkc.2_5'UTR	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	120	WD 3.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTCCAGACCCGAGCTGTCCG	0.642												
GALNT11	63917	broad.mit.edu	37	7	151805283	151805283	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:151805283C>T	uc010lqg.1	+	6	1103	c.873C>T	c.(871-873)CGC>CGT	p.R291R	GALNT11_uc011kvm.1_Silent_p.R210R|GALNT11_uc003wku.2_Silent_p.R291R|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_Silent_p.R39R	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	291	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CTGTCGTCCGCGGAGGGTTCA	0.602												
MNX1	3110	broad.mit.edu	37	7	156802962	156802962	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:156802962A>G	uc003wnd.1	-	1	386	c.83T>C	c.(82-84)CTG>CCG	p.L28P	MNX1_uc003wmz.2_5'Flank|MNX1_uc003wna.2_Missense_Mutation_p.L28P|MNX1_uc010lqq.1_5'Flank|MNX1_uc003wnc.1_5'Flank|MNX1_uc010lqr.1_5'Flank|uc003wne.1_5'Flank	NM_005515	NP_005506	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1 isoform 1	28				DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPH EPPLAERALAKVTSPPVP (in Ref. 1; AAB60647).	humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCAAGGCCAGCGGCGCGCT	0.567									Currarino_syndrome			
ERICH1	157697	broad.mit.edu	37	8	623572	623572	+	Silent	SNP	C	C	T	rs115887455	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:623572C>T	uc003wph.2	-	4	845	c.780G>A	c.(778-780)CCG>CCA	p.P260P	ERICH1_uc011kwh.1_Silent_p.P260P|ERICH1_uc003wpe.1_Silent_p.P166P|ERICH1_uc003wpi.2_Silent_p.P72P	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	260	Glu-rich.									large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CCTCCCCGGCCGGTGTCGGAT	0.617												
CLN8	2055	broad.mit.edu	37	8	1719304	1719304	+	Missense_Mutation	SNP	G	G	T	rs148763945		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:1719304G>T	uc003wpo.3	+	2	389	c.84G>T	c.(82-84)ATG>ATT	p.M28I		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	28	Helical; (Potential).				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		p.M28I(2)		ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CCACGCTGATGGTCGCTGGCT	0.542												
MYOM2	9172	broad.mit.edu	37	8	2046748	2046748	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:2046748G>A	uc003wpx.3	+	19	2513	c.2375G>A	c.(2374-2376)GGC>GAC	p.G792D	MYOM2_uc011kwi.1_Missense_Mutation_p.G217D	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	792	Fibronectin type-III 4.				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)		AACCTGGCCGGCATCGGGGAG	0.567												
CSMD1	64478	broad.mit.edu	37	8	2886956	2886956	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:2886956G>A	uc011kwk.1	-	51	8133	c.7743C>T	c.(7741-7743)TAC>TAT	p.Y2581Y	CSMD1_uc011kwj.1_Silent_p.Y1910Y|CSMD1_uc010lrg.2_Silent_p.Y649Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2581	Extracellular (Potential).|Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTGAGCACCGTACTCATTCA	0.532												
SGK223	157285	broad.mit.edu	37	8	8176630	8176630	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:8176630G>A	uc003wsh.3	-	5	3255	c.3255C>T	c.(3253-3255)TGC>TGT	p.C1085C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1085	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TGACCACCACGCAGTCCTGCT	0.716												
PPP1R3B	79660	broad.mit.edu	37	8	8998651	8998651	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:8998651T>G	uc003wsn.3	-	2	676	c.511A>C	c.(511-513)AGC>CGC	p.S171R	PPP1R3B_uc003wso.3_Missense_Mutation_p.S170R	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	171	CBM21.				glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TCTGTGTAGCTCTTCCAGGTG	0.502												
TNKS	8658	broad.mit.edu	37	8	9622250	9622250	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:9622250A>G	uc003wss.2	+	23	3402	c.3397A>G	c.(3397-3399)AGA>GGA	p.R1133G	TNKS_uc011kww.1_Missense_Mutation_p.R896G	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1133	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		TCGAGAACACAGAGATGGTGG	0.353												
BLK	640	broad.mit.edu	37	8	11420558	11420558	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:11420558C>T	uc003wty.2	+	12	1832	c.1251C>T	c.(1249-1251)GAC>GAT	p.D417D	BLK_uc003wtz.2_Silent_p.D346D|BLK_uc003wua.2_Silent_p.D253D	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	417	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCAAAGCAGACGTGTGGTCGT	0.592												
USP17L2	377630	broad.mit.edu	37	8	11995172	11995172	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:11995172C>A	uc003wvc.1	-	1	1098	c.1098G>T	c.(1096-1098)CAG>CAT	p.Q366H	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	366					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)	3						GGACATAGGCCTGTTGACTCA	0.483												
DLC1	10395	broad.mit.edu	37	8	12943849	12943849	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:12943849G>T	uc003wwm.2	-	17	4860	c.4416C>A	c.(4414-4416)CCC>CCA	p.P1472P	DLC1_uc003wwk.1_Silent_p.P1035P|DLC1_uc003wwl.1_Silent_p.P1069P|DLC1_uc011kxx.1_Silent_p.P961P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1472	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CTGGCCCACAGGGTTCAATCA	0.453												
DLC1	10395	broad.mit.edu	37	8	12957883	12957883	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:12957883C>A	uc003wwm.2	-	9	2407	c.1963G>T	c.(1963-1965)GGC>TGC	p.G655C	DLC1_uc003wwk.1_Missense_Mutation_p.G218C|DLC1_uc003wwl.1_Missense_Mutation_p.G252C|DLC1_uc011kxx.1_Missense_Mutation_p.G144C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	655					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TTTTCGTGGCCTTTCATGCTG	0.557												
EFHA2	286097	broad.mit.edu	37	8	16971623	16971623	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:16971623A>G	uc003wxd.2	+	12	1321	c.1279A>G	c.(1279-1281)AGG>GGG	p.R427G		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	427	EF-hand 2.					integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		TGATGAATTCAGGTCATTTTT	0.318												
PSD3	23362	broad.mit.edu	37	8	18432748	18432748	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:18432748G>A	uc003wza.2	-	13	2632	c.2529C>T	c.(2527-2529)AAC>AAT	p.N843N	PSD3_uc003wyx.3_Silent_p.N172N|PSD3_uc003wyy.2_Silent_p.N309N|PSD3_uc003wyz.2_Silent_p.N144N	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	844	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CACTCACAGCGTTTTTCAAGT	0.428												
XPO7	23039	broad.mit.edu	37	8	21840178	21840178	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:21840178C>T	uc003xaa.3	+	11	1234	c.1132C>T	c.(1132-1134)CAC>TAC	p.H378Y	XPO7_uc010lti.2_Missense_Mutation_p.H387Y|XPO7_uc010ltk.2_Missense_Mutation_p.H379Y	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	378				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AAATAGTGTGCACTATCTTCT	0.483												
FGF17	8822	broad.mit.edu	37	8	21903771	21903771	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:21903771C>A	uc003xag.2	+	3	231	c.219C>A	c.(217-219)ATC>ATA	p.I73I	FGF17_uc003xah.2_Silent_p.I62I|FGF17_uc003xai.2_Silent_p.I96I	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	73					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GGCGTCGCATCTCCGCCACCG	0.657												
FGF17	8822	broad.mit.edu	37	8	21905606	21905606	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:21905606G>A	uc003xag.2	+	5	509	c.497G>A	c.(496-498)CGC>CAC	p.R166H	FGF17_uc003xah.2_Missense_Mutation_p.R155H|FGF17_uc003xai.2_Missense_Mutation_p.R189H	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	166					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TCCCGCAGCCGCCAGAACCAG	0.657												
SLC39A14	23516	broad.mit.edu	37	8	22265945	22265945	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:22265945C>A	uc003xbq.3	+	3	568	c.393C>A	c.(391-393)ACC>ACA	p.T131T	SLC39A14_uc011kzg.1_Silent_p.T131T|SLC39A14_uc003xbp.3_Silent_p.T131T|SLC39A14_uc011kzh.1_Silent_p.T131T	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	131	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GGGCCTGCACCTCGGAGAACC	0.627												
EGR3	1960	broad.mit.edu	37	8	22548215	22548215	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:22548215C>T	uc003xcm.1	-	2	1293	c.935G>A	c.(934-936)CGG>CAG	p.R312Q	EGR3_uc011kzn.1_Missense_Mutation_p.R274Q|EGR3_uc011kzo.1_Missense_Mutation_p.R258Q	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	312	C2H2-type 2.				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GCTGAAGCTCCGCATGCAGAT	0.667												
RHOBTB2	23221	broad.mit.edu	37	8	22864426	22864426	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:22864426A>G	uc003xcq.2	+	5	1205	c.668A>G	c.(667-669)AAT>AGT	p.N223S	RHOBTB2_uc003xcp.2_Missense_Mutation_p.N245S|RHOBTB2_uc011kzp.1_Missense_Mutation_p.N230S|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	223					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CACCTCCGCAATGTGCAGCGG	0.662												
NKX3-1	4824	broad.mit.edu	37	8	23539062	23539062	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:23539062C>T	uc011kzx.1	-	2	425	c.377G>A	c.(376-378)CGC>CAC	p.R126H	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	NK3 homeobox 1	126	Homeobox.				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding				0		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		AGCTCGGGAGCGCTTCTGCGG	0.577												
NEFL	4747	broad.mit.edu	37	8	24811209	24811209	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:24811209A>G	uc003xee.2	-	3	1372	c.1270T>C	c.(1270-1272)TAC>CAC	p.Y424H		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	424	Tail.|Tail, subdomain A.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|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)		AAACCGCCGTAGGCAGATCGG	0.567												
NEFL	4747	broad.mit.edu	37	8	24813312	24813312	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:24813312A>G	uc003xee.2	-	1	820	c.718T>C	c.(718-720)TAC>CAC	p.Y240H		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	240	Rod.|Linker 12.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|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)		ATCTGCGCGTACTGGATCTGC	0.587												
CDCA2	157313	broad.mit.edu	37	8	25323706	25323706	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:25323706T>C	uc003xep.1	+	5	882	c.403T>C	c.(403-405)TAT>CAT	p.Y135H	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.Y135H|CDCA2_uc003xeq.1_Missense_Mutation_p.Y120H|CDCA2_uc003xer.1_5'Flank	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	135					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)		CCCTGCACTGTATCGAAATGT	0.378												
PPP2R2A	5520	broad.mit.edu	37	8	26227792	26227792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:26227792C>T	uc003xeu.2	+	10	1509	c.1207C>T	c.(1207-1209)CGA>TGA	p.R403*	PPP2R2A_uc003xek.2_Nonsense_Mutation_p.R404*|PPP2R2A_uc011laf.1_Nonsense_Mutation_p.R413*	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	403					protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		AAGTGGCAAGCGAAAGAAAGA	0.453												
EXTL3	2137	broad.mit.edu	37	8	28575242	28575242	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:28575242C>T	uc003xgz.1	+	3	2259	c.1666C>T	c.(1666-1668)CGT>TGT	p.R556C		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	556	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GATCCCCCACCGTTCAGGCAA	0.607												
FUT10	84750	broad.mit.edu	37	8	33247281	33247281	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:33247281G>A	uc003xje.2	-	4	768	c.412C>T	c.(412-414)CGG>TGG	p.R138W	FUT10_uc003xjc.2_Missense_Mutation_p.R145W|FUT10_uc003xjd.2_Missense_Mutation_p.R110W|FUT10_uc011lbi.1_Missense_Mutation_p.R188W|FUT10_uc003xjf.2_Missense_Mutation_p.R76W|FUT10_uc003xjg.2_Missense_Mutation_p.R110W|FUT10_uc003xjh.2_Missense_Mutation_p.R138W	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	138	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TGGGCTTTCCGAGGCAGAGGT	0.388												
KCNU1	157855	broad.mit.edu	37	8	36780117	36780117	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:36780117C>T	uc010lvw.2	+	24	2793	c.2706C>T	c.(2704-2706)TCC>TCT	p.S902S	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	902	Segment S10.|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)		CTGTTTTTTCCGGCAGCTTCT	0.493												
ASH2L	9070	broad.mit.edu	37	8	37974227	37974227	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:37974227T>C	uc003xkt.3	+	8	895	c.837T>C	c.(835-837)ACT>ACC	p.T279T	ASH2L_uc011lbk.1_Silent_p.T140T|ASH2L_uc003xku.3_Silent_p.T185T|ASH2L_uc010lwa.2_Silent_p.T185T	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	279					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTGTGTCTACTAGTGGGAATT	0.378												
PLEKHA2	59339	broad.mit.edu	37	8	38809830	38809830	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:38809830G>T	uc003xmi.3	+	7	867	c.633G>T	c.(631-633)GTG>GTT	p.V211V	PLEKHA2_uc011lce.1_Silent_p.V161V	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A	211	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding				0		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			AAGGGAATGTGGTGAGTGTCA	0.562												
ADAM2	2515	broad.mit.edu	37	8	39644523	39644523	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:39644523A>G	uc003xnj.2	-	10	936	c.861T>C	c.(859-861)TGT>TGC	p.C287C	ADAM2_uc003xnk.2_Silent_p.C268C|ADAM2_uc011lck.1_Silent_p.C287C|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	287	Extracellular (Potential).|Peptidase M12B.				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)		AGTTTGCATCACACATCTTCC	0.284												
SFRP1	6422	broad.mit.edu	37	8	41166419	41166419	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:41166419A>G	uc003xnt.2	-	1	562	c.260T>C	c.(259-261)ATG>ACG	p.M87T		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	87	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACCTCCGCCATGGTCTCGTG	0.652												
ANK1	286	broad.mit.edu	37	8	41551449	41551449	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:41551449T>C	uc003xok.2	-	29	3583	c.3499A>G	c.(3499-3501)ACC>GCC	p.T1167A	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.T483A|ANK1_uc003xoi.2_Missense_Mutation_p.T1167A|ANK1_uc003xoj.2_Missense_Mutation_p.T1167A|ANK1_uc003xol.2_Missense_Mutation_p.T1167A|ANK1_uc003xom.2_Missense_Mutation_p.T1208A	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1167					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGCTGGTGGTGTCTCCCTCC	0.667												
IKBKB	3551	broad.mit.edu	37	8	42151029	42151029	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:42151029T>C	uc003xow.1	+	5	564	c.387T>C	c.(385-387)ATT>ATC	p.I129I	IKBKB_uc003xov.2_Silent_p.I129I|IKBKB_uc010lxh.1_Intron|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.I127I|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.I70I	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	129	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)	TGAGTGACATTGGTAAATCCC	0.542												
HOOK3	84376	broad.mit.edu	37	8	42819545	42819545	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:42819545C>A	uc003xpr.2	+	9	949	c.707C>A	c.(706-708)CCT>CAT	p.P236H	HOOK3_uc010lxq.1_Missense_Mutation_p.P236H	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	236	Potential.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATAGAAGACCCTAACAGTCCA	0.393			T	RET	papillary thyroid							
SNAI2	6591	broad.mit.edu	37	8	49832848	49832848	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:49832848C>T	uc003xqp.2	-	2	396	c.232G>A	c.(232-234)GGA>AGA	p.G78R		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	78					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GAGGAGTATCCGGAAAGAGGA	0.567												
TCEA1	6917	broad.mit.edu	37	8	54900776	54900776	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:54900776C>T	uc003xru.2	-	5	687	c.364G>A	c.(364-366)GCT>ACT	p.A122T	TCEA1_uc003xrv.2_Missense_Mutation_p.A101T|TCEA1_uc011ldw.1_Intron|TCEA1_uc003xrw.1_RNA	NM_006756	NP_006747	P23193	TCEA1_HUMAN	transcription elongation factor A 1 isoform 1	122					positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding				0		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GTATCTCGAGCATTTGTCTCA	0.443			T	PLAG1	salivary adenoma							
XKR4	114786	broad.mit.edu	37	8	56436612	56436612	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:56436612A>G	uc003xsf.2	+	3	1811	c.1779A>G	c.(1777-1779)TCA>TCG	p.S593S		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	593						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTGAAGAATCAGTCATTAAAA	0.488												
CHD7	55636	broad.mit.edu	37	8	61757811	61757811	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:61757811T>C	uc003xue.2	+	23	5530	c.5053T>C	c.(5053-5055)TTG>CTG	p.L1685L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1685					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GATTCTAGGTTTGTCAGCTCC	0.498												
LRRC67	286187	broad.mit.edu	37	8	67900734	67900734	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:67900734T>G	uc003xxc.2	-	6	716	c.571A>C	c.(571-573)AAC>CAC	p.N191H		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	leucine rich repeat containing 67	191											0						ATCAACTTGTTCAGTAAAAAC	0.343												
CSPP1	79848	broad.mit.edu	37	8	68007920	68007920	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:68007920T>C	uc003xxi.2	+	8	1039	c.1008T>C	c.(1006-1008)TAT>TAC	p.Y336Y	CSPP1_uc003xxg.1_Silent_p.Y328Y|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.Y301Y|CSPP1_uc003xxk.2_Silent_p.Y7Y	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	336						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GGTTTAGATATGAAAGTGATT	0.308												
C8orf34	116328	broad.mit.edu	37	8	69358682	69358682	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:69358682G>A	uc010lyz.2	+	3	385	c.336G>A	c.(334-336)CCG>CCA	p.P112P	C8orf34_uc010lyx.1_Silent_p.P112P|C8orf34_uc010lyy.1_Silent_p.P112P|C8orf34_uc003xyb.2_Silent_p.P87P	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	112					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CACCATCACCGGACTCCAAAT	0.343												
SULF1	23213	broad.mit.edu	37	8	70515459	70515459	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:70515459C>T	uc010lza.1	+	11	1811	c.1094C>T	c.(1093-1095)GCC>GTC	p.A365V	SULF1_uc003xyd.2_Missense_Mutation_p.A365V|SULF1_uc003xye.2_Missense_Mutation_p.A365V|SULF1_uc003xyf.2_Missense_Mutation_p.A365V|SULF1_uc003xyg.2_Missense_Mutation_p.A365V|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	365					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)			ATTGACTTGGCCCCCACGATC	0.542												
EYA1	2138	broad.mit.edu	37	8	72127929	72127929	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:72127929C>A	uc003xys.3	-	14	1682	c.1395G>T	c.(1393-1395)CTG>CTT	p.L465L	EYA1_uc003xyr.3_Silent_p.L430L|EYA1_uc003xyt.3_Silent_p.L432L|EYA1_uc010lzf.2_Silent_p.L392L|EYA1_uc003xyu.2_Silent_p.L465L|EYA1_uc011lfe.1_Silent_p.L459L|EYA1_uc003xyv.2_Silent_p.L343L	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	465					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCCTCAACTGCAGCCAGGCTT	0.527												
JPH1	56704	broad.mit.edu	37	8	75233296	75233296	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:75233296G>A	uc003yae.2	-	1	267	c.227C>T	c.(226-228)ACG>ATG	p.T76M	JPH1_uc003yaf.2_Missense_Mutation_p.T76M|JPH1_uc003yag.1_Intron	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	76	Gly-rich.|MORN 3.|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)			CTTGCCCTTCGTCTCCACCCC	0.682												
ZFHX4	79776	broad.mit.edu	37	8	77765070	77765070	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:77765070A>T	uc003yav.2	+	10	6165	c.5778A>T	c.(5776-5778)CAA>CAT	p.Q1926H	ZFHX4_uc003yau.1_Missense_Mutation_p.Q1971H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1926H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1926						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACATGGGCAATTTTTTCCAT	0.373										HNSCC(33;0.089)		
ZFHX4	79776	broad.mit.edu	37	8	77767659	77767659	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:77767659A>G	uc003yav.2	+	10	8754	c.8367A>G	c.(8365-8367)AAA>AAG	p.K2789K	ZFHX4_uc003yau.1_Silent_p.K2834K|ZFHX4_uc003yaw.1_Silent_p.K2789K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2789						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGATGTGAAACCGGCTTTGT	0.488										HNSCC(33;0.089)		
LRRCC1	85444	broad.mit.edu	37	8	86049698	86049698	+	Splice_Site	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:86049698G>T	uc003ycw.2	+	15	2484	c.2330_splice	c.e15-1	p.G777_splice	LRRCC1_uc010maa.1_Splice_Site_p.G478_splice|LRRCC1_uc003ycx.2_Splice_Site_p.G684_splice|LRRCC1_uc003ycy.2_Splice_Site_p.G757_splice	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a						cell division|mitosis	centriole|nucleus					0						TTGTTTCTTAGGATCTTCTCT	0.303												
FAM82B	51115	broad.mit.edu	37	8	87487047	87487047	+	Splice_Site	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:87487047A>G	uc003ydu.2	-	9	1054	c.894_splice	c.e9+1	p.Q298_splice	FAM82B_uc011lfz.1_Splice_Site_p.Q255_splice|FAM82B_uc011lga.1_Splice_Site_p.Q268_splice	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1							microtubule|spindle pole	binding			ovary(1)	1						GAGATGTTTTACCTGTTTATC	0.348												
RIPK2	8767	broad.mit.edu	37	8	90770378	90770378	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:90770378C>T	uc003yee.2	+	1	404	c.90C>T	c.(88-90)GGC>GGT	p.G30G	uc003yed.2_5'Flank|RIPK2_uc003yef.2_5'UTR	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	30	ATP (By similarity).|Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|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 protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)			GCGCCTCTGGCACTGTGTCGT	0.687												
SLC26A7	115111	broad.mit.edu	37	8	92365208	92365208	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:92365208T>C	uc003yex.2	+	12	1576	c.1298T>C	c.(1297-1299)GTG>GCG	p.V433A	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.V433A|SLC26A7_uc003yfa.2_Missense_Mutation_p.V433A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	433	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TATTGGAATGTGGATAAAATC	0.323												
RUNX1T1	862	broad.mit.edu	37	8	92983012	92983012	+	Silent	SNP	C	C	T	rs142225049	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:92983012C>T	uc003yfd.2	-	10	1497	c.1413G>A	c.(1411-1413)GCG>GCA	p.A471A	RUNX1T1_uc003yfc.1_Silent_p.A444A|RUNX1T1_uc003yfe.1_Silent_p.A434A|RUNX1T1_uc010mao.2_Silent_p.A444A|RUNX1T1_uc011lgi.1_Silent_p.A482A|RUNX1T1_uc010man.1_Silent_p.A96A|RUNX1T1_uc003yfb.1_Silent_p.A434A	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	471			A -> V (in a colorectal cancer sample; somatic mutation).		generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTTTCCGCTCCGCCTCAGACA	0.617												
RBM12B	389677	broad.mit.edu	37	8	94746566	94746566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:94746566C>T	uc003yfz.2	-	3	2266	c.2073G>A	c.(2071-2073)TGG>TGA	p.W691*		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	691							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GTGGTCGCCTCCATTCTCCCT	0.612												
TSPYL5	85453	broad.mit.edu	37	8	98290066	98290066	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:98290066C>T	uc003yhy.2	-	1	111	c.7G>A	c.(7-9)GGC>AGC	p.G3S		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	3					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					CGACTTCGGCCGCTCATGGTG	0.706												
POP1	10940	broad.mit.edu	37	8	99170031	99170031	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:99170031C>T	uc003yij.3	+	16	2707	c.2607C>T	c.(2605-2607)CCC>CCT	p.P869P	POP1_uc011lgv.1_Silent_p.P869P|POP1_uc003yik.2_Silent_p.P869P	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	869					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)			AGGGCAGCCCCGAGCCTCACA	0.607												
VPS13B	157680	broad.mit.edu	37	8	100654346	100654346	+	Missense_Mutation	SNP	A	A	T	rs141211386	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:100654346A>T	uc003yiv.2	+	34	5714	c.5603A>T	c.(5602-5604)GAA>GTA	p.E1868V	VPS13B_uc003yiw.2_Missense_Mutation_p.E1843V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1868					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGAATAATGAAAAAACAGAC	0.373												
UBR5	51366	broad.mit.edu	37	8	103340002	103340002	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:103340002G>T	uc003ykr.1	-	12	1482	c.1449C>A	c.(1447-1449)ACC>ACA	p.T483T	UBR5_uc003yks.1_Silent_p.T483T	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	483					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)			GCTGAGCGCAGGTGTAAAGGG	0.418												
ABRA	137735	broad.mit.edu	37	8	107782296	107782296	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:107782296G>A	uc003ymm.3	-	1	177	c.123C>T	c.(121-123)AGC>AGT	p.S41S		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	41					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCTGCCTGATGCTGTTCTCAT	0.632												
EBAG9	9166	broad.mit.edu	37	8	110563098	110563098	+	Silent	SNP	A	A	G	rs149468671		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:110563098A>G	uc003ynf.2	+	2	280	c.45A>G	c.(43-45)CTA>CTG	p.L15L	EBAG9_uc010mcn.1_RNA|EBAG9_uc003yng.2_Silent_p.L15L	NM_198120	NP_936056	O00559	RCAS1_HUMAN	estrogen receptor binding site associated	15	Helical; Signal-anchor for type III membrane protein; (Potential).				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity				0			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			GTACCTGCCTAGCAACAGTAT	0.358												
EBAG9	9166	broad.mit.edu	37	8	110576774	110576774	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:110576774G>A	uc003ynf.2	+	7	863	c.628G>A	c.(628-630)GTG>ATG	p.V210M	EBAG9_uc003yng.2_Missense_Mutation_p.V210M	NM_198120	NP_936056	O00559	RCAS1_HUMAN	estrogen receptor binding site associated	210	Cytoplasmic (Potential).|Potential.				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity				0			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CAAAATTGGTGTGAAACTTTC	0.368												
CSMD3	114788	broad.mit.edu	37	8	113267603	113267603	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:113267603T>C	uc003ynu.2	-	62	10075	c.9916A>G	c.(9916-9918)AGC>GGC	p.S3306G	CSMD3_uc003yns.2_Missense_Mutation_p.S2508G|CSMD3_uc003ynt.2_Missense_Mutation_p.S3266G|CSMD3_uc011lhx.1_Missense_Mutation_p.S3137G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3306	Extracellular (Potential).|Sushi 26.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TATATAAAGCTTTTGCCTTCT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113988083	113988083	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:113988083G>T	uc003ynu.2	-	7	1484	c.1325C>A	c.(1324-1326)GCA>GAA	p.A442E	CSMD3_uc003ynt.2_Missense_Mutation_p.A402E|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	442	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGTAACAACTGCAAGCTCTTT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116426634	116426634	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:116426634C>A	uc003ynz.2	-	6	3922	c.3463G>T	c.(3463-3465)GCT>TCT	p.A1155S	TRPS1_uc011lhy.1_Missense_Mutation_p.A1159S|TRPS1_uc003yny.2_Missense_Mutation_p.A1168S|TRPS1_uc010mcy.2_Missense_Mutation_p.A1155S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1155	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GATCCAACAGCTGAAAAATGA	0.502									Langer-Giedion_syndrome			
TAF2	6873	broad.mit.edu	37	8	120844797	120844797	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:120844797A>G	uc003you.2	-	1	278	c.8T>C	c.(7-9)CTG>CCG	p.L3P		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	3					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TACACCAGTCAGCGGCATGAA	0.532												
ATAD2	29028	broad.mit.edu	37	8	124413003	124413003	+	RNA	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:124413003C>T	uc003yqi.3	-	2		c.516G>A			uc003yqk.2_5'Flank			Q6PL18	ATAD2_HUMAN	Homo sapiens PRO2000 mRNA, complete cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACGCTGAAGACGCCGCTGATC	0.537												
TATDN1	83940	broad.mit.edu	37	8	125506109	125506109	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:125506109G>A	uc003yrd.2	-	11	798	c.756C>T	c.(754-756)CAC>CAT	p.H252H	TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Silent_p.H205H|TATDN1_uc003yrf.2_Silent_p.H288H	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1 isoform a	252						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTTAAGCAGTGCCCACTTT	0.368												
KIAA0196	9897	broad.mit.edu	37	8	126091168	126091168	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:126091168C>T	uc003yrt.2	-	6	852	c.523G>A	c.(523-525)GCT>ACT	p.A175T	KIAA0196_uc011lir.1_Missense_Mutation_p.A27T	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	175					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)			GAAGATCGAGCAGCACTGAGT	0.388												
ADCY8	114	broad.mit.edu	37	8	132051792	132051792	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:132051792C>T	uc003ytd.3	-	1	1044	c.788G>A	c.(787-789)GGC>GAC	p.G263D	ADCY8_uc010mds.2_Missense_Mutation_p.G263D	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	263	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|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)			GAGCCCGTAGCCGAGGCCTGC	0.662										HNSCC(32;0.087)		
WISP1	8840	broad.mit.edu	37	8	134225301	134225301	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:134225301G>A	uc003yub.2	+	2	340	c.264G>A	c.(262-264)ACG>ACA	p.T88T	WISP1_uc003yuc.2_Silent_p.T88T|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Silent_p.T88T|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	88	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ACAACTGCACGGAGGCTGCCA	0.642												
TRAPPC9	83696	broad.mit.edu	37	8	141461251	141461251	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:141461251G>A	uc003yvj.2	-	2	356	c.222C>T	c.(220-222)CAC>CAT	p.H74H	TRAPPC9_uc003yvh.2_Silent_p.H172H|TRAPPC9_uc003yvi.1_Silent_p.H74H	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	74					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						CGACTTTGCGGTGGGTCTGGA	0.582												
EIF2C2	27161	broad.mit.edu	37	8	141561443	141561443	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:141561443C>T	uc003yvn.2	-	11	1402	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	EIF2C2_uc010men.2_Silent_p.A377A|EIF2C2_uc010meo.2_Silent_p.A454A	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	454					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)			GGGCGAAGCACGCAATGGCCC	0.617												
BAI1	575	broad.mit.edu	37	8	143603466	143603466	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:143603466C>T	uc003ywm.2	+	20	3348	c.3165C>T	c.(3163-3165)TGC>TGT	p.C1055C		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1055	Helical; Name=4; (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCTTCCTCTGCCTGGGCTGGG	0.672												
C8orf31	286122	broad.mit.edu	37	8	144126111	144126111	+	Missense_Mutation	SNP	G	G	A	rs137944456		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:144126111G>A	uc003yxp.1	+	4	584	c.232G>A	c.(232-234)GCT>ACT	p.A78T	C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	hypothetical protein LOC286122	78										ovary(1)	1	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCCAAAGACGCTCACTTTCT	0.617												
FAM83H	286077	broad.mit.edu	37	8	144811445	144811445	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:144811445C>T	uc003yzk.2	-	3	565	c.496G>A	c.(496-498)GAA>AAA	p.E166K	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	166					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCAGCACTTCGCTGAGCAGG	0.637												
SCRIB	23513	broad.mit.edu	37	8	144892734	144892734	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:144892734T>C	uc003yzp.1	-	13	1452	c.1445A>G	c.(1444-1446)AAG>AGG	p.K482R	SCRIB_uc003yzo.1_Missense_Mutation_p.K482R	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	482	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTTCATCACCTTGAGCTCGCT	0.672												
EPPK1	83481	broad.mit.edu	37	8	144944631	144944631	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:144944631C>T	uc003zaa.1	-	1	2804	c.2791G>A	c.(2791-2793)GCT>ACT	p.A931T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	931	Plectin 17.					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)			CCGCCCACAGCTCCCAGGCCG	0.687												
PLEC	5339	broad.mit.edu	37	8	144992277	144992277	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:144992277G>A	uc003zaf.1	-	32	12293	c.12123C>T	c.(12121-12123)GAC>GAT	p.D4041D	PLEC_uc003zab.1_Silent_p.D3904D|PLEC_uc003zac.1_Silent_p.D3908D|PLEC_uc003zad.2_Silent_p.D3904D|PLEC_uc003zae.1_Silent_p.D3872D|PLEC_uc003zag.1_Silent_p.D3882D|PLEC_uc003zah.2_Silent_p.D3890D|PLEC_uc003zaj.2_Silent_p.D3931D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4041	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						CCGTGGCCTCGTCCATGACCT	0.652												
OPLAH	26873	broad.mit.edu	37	8	145112396	145112396	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:145112396G>A	uc003zar.3	-	10	1459	c.1377C>T	c.(1375-1377)CGC>CGT	p.R459R	OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_3'UTR	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	459							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)	CGTTGGCCACGCGCACGAACC	0.706												
SCRT1	83482	broad.mit.edu	37	8	145556953	145556953	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:145556953G>A	uc003zbw.1	-	2	1053	c.941C>T	c.(940-942)GCG>GTG	p.A314V		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	314	C2H2-type 5; atypical.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGACTTGAGCGCGAAGCTCTT	0.657												
SCRT1	83482	broad.mit.edu	37	8	145557181	145557181	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:145557181G>A	uc003zbw.1	-	2	825	c.713C>T	c.(712-714)GCC>GTC	p.A238V		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	238	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CAGGTGCATGGCCATGGCCGG	0.697												
GPR172A	79581	broad.mit.edu	37	8	145583308	145583308	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:145583308T>C	uc003zcc.1	+	3	313	c.156T>C	c.(154-156)TCT>TCC	p.S52S	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.S52S|GPR172A_uc003zce.1_Silent_p.S52S|GPR172A_uc010mfy.1_Silent_p.S52S|GPR172A_uc003zcf.1_Silent_p.S52S|GPR172A_uc011llc.1_5'UTR	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	52	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CTTACGTCTCTGTGCTTGTGG	0.637												
ZNF7	7553	broad.mit.edu	37	8	146067086	146067086	+	Silent	SNP	C	C	T	rs146614064		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:146067086C>T	uc003zeg.3	+	5	731	c.594C>T	c.(592-594)TGC>TGT	p.C198C	ZNF7_uc010mge.2_Silent_p.C209C|ZNF7_uc011lln.1_Silent_p.C102C|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Silent_p.C102C|COMMD5_uc003zel.1_RNA	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	198					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CCCAGAGATGCGAGGAGTGTG	0.502												
ZNF16	7564	broad.mit.edu	37	8	146156297	146156297	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:146156297C>T	uc003zet.2	-	4	2063	c.1876G>A	c.(1876-1878)GAG>AAG	p.E626K	ZNF16_uc003zeu.2_Missense_Mutation_p.E626K	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TAGGGGCGCTCGCCCGTGTGG	0.527												
DOCK8	81704	broad.mit.edu	37	9	429834	429834	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:429834T>C	uc003zgf.2	+	36	4718	c.4606T>C	c.(4606-4608)TTC>CTC	p.F1536L	DOCK8_uc010mgu.2_Missense_Mutation_p.F838L|DOCK8_uc010mgv.2_Missense_Mutation_p.F1436L|DOCK8_uc003zgk.2_Missense_Mutation_p.F994L	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1536	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTCATGAGGTTCAGTTTTGG	0.483												
GLIS3	169792	broad.mit.edu	37	9	4117878	4117878	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:4117878A>G	uc003zhw.1	-	3	1329	c.1135T>C	c.(1135-1137)TTC>CTC	p.F379L	GLIS3_uc003zhx.1_Missense_Mutation_p.F534L|GLIS3_uc003zic.1_Missense_Mutation_p.F534L|GLIS3_uc003zie.1_Missense_Mutation_p.F534L|GLIS3_uc010mhh.1_Missense_Mutation_p.F409L|GLIS3_uc003zid.1_Missense_Mutation_p.F312L|GLIS3_uc010mhi.1_Missense_Mutation_p.F341L|GLIS3_uc003zif.1_Missense_Mutation_p.F312L|GLIS3_uc003zig.1_Missense_Mutation_p.F378L|GLIS3_uc003zih.1_Missense_Mutation_p.F312L|GLIS3_uc003zhy.1_Missense_Mutation_p.F312L|GLIS3_uc003zhz.1_Missense_Mutation_p.F312L|GLIS3_uc003zib.1_Missense_Mutation_p.F378L|GLIS3_uc010mhg.1_Missense_Mutation_p.F312L	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	379	C2H2-type 2; atypical.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AAGCAAGTGAAGTCCTCCCCT	0.592												
PPAPDC2	403313	broad.mit.edu	37	9	4663138	4663138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:4663138C>T	uc003zin.2	+	1	841	c.763C>T	c.(763-765)CGG>TGG	p.R255W	C9orf68_uc003zik.2_Intron|C9orf68_uc003zil.2_Intron|C9orf68_uc010mhj.2_Intron|C9orf68_uc011lly.1_Intron|C9orf68_uc011llz.1_Intron|C9orf68_uc003zim.2_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain	255						integral to membrane	hydrolase activity				0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CATGCTGGGGCGGCACAATGT	0.567												
INSL4	3641	broad.mit.edu	37	9	5233697	5233697	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:5233697T>C	uc003ziy.2	+	2	345	c.240T>C	c.(238-240)GGT>GGC	p.G80G		NM_002195	NP_002186	Q14641	INSL4_HUMAN	insulin-like 4 precursor	80					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		AAGCCTTAGGTACGACATCAG	0.398												
PTPRD	5789	broad.mit.edu	37	9	8341229	8341229	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:8341229T>C	uc003zkk.2	-	40	5698	c.4987A>G	c.(4987-4989)AGT>GGT	p.S1663G	PTPRD_uc003zkp.2_Missense_Mutation_p.S1257G|PTPRD_uc003zkq.2_Missense_Mutation_p.S1256G|PTPRD_uc003zkr.2_Missense_Mutation_p.S1247G|PTPRD_uc003zks.2_Missense_Mutation_p.S1256G|PTPRD_uc003zkl.2_Missense_Mutation_p.S1654G|PTPRD_uc003zkm.2_Missense_Mutation_p.S1650G|PTPRD_uc003zkn.2_Missense_Mutation_p.S1252G|PTPRD_uc003zko.2_Missense_Mutation_p.S1253G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1663	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				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)		AGATTGGCACTGATAAACCTT	0.388										TSP Lung(15;0.13)		
BNC2	54796	broad.mit.edu	37	9	16435650	16435650	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:16435650C>T	uc003zml.2	-	6	2682	c.2542G>A	c.(2542-2544)GTG>ATG	p.V848M	BNC2_uc011lmw.1_Missense_Mutation_p.V753M|BNC2_uc003zmm.2_Missense_Mutation_p.V806M|BNC2_uc003zmq.1_Missense_Mutation_p.V862M|BNC2_uc003zmr.1_Missense_Mutation_p.V885M|BNC2_uc003zmp.1_Missense_Mutation_p.V876M|BNC2_uc010mij.1_Missense_Mutation_p.V770M|BNC2_uc011lmv.1_Missense_Mutation_p.V674M|BNC2_uc003zmo.1_Missense_Mutation_p.V770M|BNC2_uc003zmj.2_Missense_Mutation_p.V613M|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.V613M|BNC2_uc003zmn.1_Missense_Mutation_p.V613M	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	848	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TGAAGTTTCACACTGTAGGAG	0.502												
ADAMTSL1	92949	broad.mit.edu	37	9	18504860	18504860	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:18504860G>A	uc003zne.3	+	2	224	c.97G>A	c.(97-99)GAC>AAC	p.D33N	ADAMTSL1_uc003znb.2_Missense_Mutation_p.D33N|ADAMTSL1_uc003znc.3_Missense_Mutation_p.D33N	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	33	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGGACCGGGACGGCCTATG	0.572												
KIAA1161	57462	broad.mit.edu	37	9	34372511	34372511	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:34372511T>C	uc003zue.3	-	3	598	c.431A>G	c.(430-432)CAC>CGC	p.H144R		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	144	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GATGAAGAAGTGCAGCGGCAG	0.711												
MELK	9833	broad.mit.edu	37	9	36657290	36657290	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:36657290C>T	uc003zzn.2	+	13	1244	c.1106C>T	c.(1105-1107)GCG>GTG	p.A369V	MELK_uc011lpm.1_Missense_Mutation_p.A238V|MELK_uc011lpn.1_Intron|MELK_uc011lpo.1_Missense_Mutation_p.A175V|MELK_uc010mll.2_Missense_Mutation_p.A337V|MELK_uc011lpp.1_Missense_Mutation_p.A321V|MELK_uc010mlm.2_Missense_Mutation_p.A298V|MELK_uc011lpq.1_Missense_Mutation_p.A175V|MELK_uc011lpr.1_Missense_Mutation_p.A298V|MELK_uc011lps.1_Missense_Mutation_p.A289V	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	369						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AATTATGTGGCGGGATTAATA	0.378												
FRMPD1	22844	broad.mit.edu	37	9	37745147	37745147	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:37745147G>T	uc004aag.1	+	16	3162	c.3118G>T	c.(3118-3120)GAC>TAC	p.D1040Y	FRMPD1_uc004aah.1_Missense_Mutation_p.D1040Y	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1040						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CTCTCAAGGAGACACACTAGA	0.493												
RG9MTD3	158234	broad.mit.edu	37	9	37763751	37763751	+	Splice_Site	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:37763751G>A	uc004aai.2	+	4	497	c.420_splice	c.e4+1	p.K140_splice	RG9MTD3_uc011lqo.1_Splice_Site_p.K140_splice|RG9MTD3_uc011lqp.1_Intron|RG9MTD3_uc011lqq.1_Intron|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Splice_Site_p.K45_splice	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	RNA (guanine-9-) methyltransferase domain								methyltransferase activity				0				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		GTCAAAGAAGGTAGAACATCC	0.468												
APBA1	320	broad.mit.edu	37	9	72067157	72067157	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:72067157T>C	uc004ahh.2	-	9	2125	c.1849A>G	c.(1849-1851)AGG>GGG	p.R617G		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	617	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						CCATTGGCCCTGAGGAATTCC	0.522												
APBA1	320	broad.mit.edu	37	9	72082837	72082837	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:72082837C>T	uc004ahh.2	-	5	1660	c.1384G>A	c.(1384-1386)GCC>ACC	p.A462T		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	462	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						TAATTGGCGGCAAAAATGATT	0.547												
SMC5	23137	broad.mit.edu	37	9	72901115	72901115	+	Splice_Site	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:72901115G>T	uc004ahr.2	+	8	1099	c.982_splice	c.e8-1	p.A328_splice		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						TAATTTTACAGGCAACAGATA	0.363												
GDA	9615	broad.mit.edu	37	9	74817603	74817603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:74817603C>T	uc004aiq.2	+	3	512	c.329C>T	c.(328-330)GCA>GTA	p.A110V	GDA_uc011lse.1_Missense_Mutation_p.A36V|GDA_uc011lsf.1_Missense_Mutation_p.A36V|GDA_uc004air.2_Missense_Mutation_p.A110V|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.A68V|GDA_uc004ait.1_Missense_Mutation_p.A36V	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	110					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ACATTTCCTGCAGAACACAGA	0.448												
PRUNE2	158471	broad.mit.edu	37	9	79323686	79323686	+	Silent	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:79323686T>G	uc010mpk.2	-	8	3628	c.3504A>C	c.(3502-3504)ACA>ACC	p.T1168T		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1168					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GCTGTCTCACTGTAAATCGGG	0.542												
PSAT1	29968	broad.mit.edu	37	9	80943978	80943978	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:80943978A>T	uc004ala.2	+	9	1157	c.1089A>T	c.(1087-1089)AAA>AAT	p.K363N	PSAT1_uc004alb.2_Missense_Mutation_p.K317N	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	363					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TCATGAAAAAATTTTTGGAGA	0.423												
GAS1	2619	broad.mit.edu	37	9	89560829	89560829	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:89560829C>T	uc004aox.3	-	1	1276	c.866G>A	c.(865-867)GGC>GAC	p.G289D	uc004aoy.2_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	growth arrest-specific 1 precursor	289					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane					0						GTGCGGGACGCCGTCGTCGTC	0.697												
DAPK1	1612	broad.mit.edu	37	9	90317955	90317955	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:90317955C>T	uc004apc.2	+	25	3021	c.2883C>T	c.(2881-2883)CCC>CCT	p.P961P	DAPK1_uc004apd.2_Silent_p.P961P|DAPK1_uc011ltg.1_Silent_p.P895P|DAPK1_uc011lth.1_Silent_p.P698P	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	961					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						TCTGTCCTCCCATGACTCACC	0.562									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of			
SEMA4D	10507	broad.mit.edu	37	9	92006233	92006233	+	Silent	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:92006233C>A	uc004aqo.1	-	11	1292	c.720G>T	c.(718-720)GTG>GTT	p.V240V	SEMA4D_uc011ltm.1_Silent_p.V240V|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.V238V	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	240	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						ACTCATACTCCACAGACACCT	0.557												
IARS	3376	broad.mit.edu	37	9	95033316	95033316	+	Nonsense_Mutation	SNP	G	G	A	rs140292751		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:95033316G>A	uc004art.1	-	12	1413	c.1156C>T	c.(1156-1158)CGA>TGA	p.R386*	IARS_uc004ars.1_Nonsense_Mutation_p.R231*|IARS_uc004aru.3_Nonsense_Mutation_p.R386*|IARS_uc010mqr.2_Nonsense_Mutation_p.R276*|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	386					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	ACCAGAAGTCGGCCTTGTTCC	0.383												
HABP4	22927	broad.mit.edu	37	9	99220764	99220764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:99220764C>A	uc010msg.2	+	2	601	c.453C>A	c.(451-453)TAC>TAA	p.Y151*	HABP4_uc010msh.2_Nonsense_Mutation_p.Y151*	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	151					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				ACAGGGAATACCGACCCTATG	0.567												
ABCA1	19	broad.mit.edu	37	9	107571802	107571802	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:107571802C>T	uc004bcl.2	-	30	4532	c.4219G>A	c.(4219-4221)GCC>ACC	p.A1407T		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1407	Extracellular.		A -> T (in a colorectal cancer sample; somatic mutation).		Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.A1407T(1)		large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGGTGAGGGCGTTTAAGAGT	0.517												
ZNF462	58499	broad.mit.edu	37	9	109690810	109690810	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:109690810G>A	uc004bcz.2	+	3	4906	c.4617G>A	c.(4615-4617)CCG>CCA	p.P1539P	ZNF462_uc010mto.2_Silent_p.P1387P|ZNF462_uc004bda.2_Silent_p.P1387P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1539					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGCGACACCCGTCCATCAAGG	0.542												
KLF4	9314	broad.mit.edu	37	9	110250473	110250473	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:110250473C>T	uc004bdh.2	-	3	796	c.175G>A	c.(175-177)GCG>ACG	p.A59T	KLF4_uc004bdf.1_Missense_Mutation_p.A18T|KLF4_uc004bdg.2_Missense_Mutation_p.A68T	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	68					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3						GCCACGGTCGCCGCCGCCAGG	0.706												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705624	112705624	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:112705624A>C	uc004bei.2	+	7	1347	c.1155A>C	c.(1153-1155)GAA>GAC	p.E385D	PALM2_uc004bef.2_Missense_Mutation_p.E387D|PALM2_uc004beg.2_Missense_Mutation_p.E353D|PALM2_uc004beh.3_Missense_Mutation_p.E385D|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	Error:Variant_position_missing_in_Q9Y2D5_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						CATCCCCAGAAGGGAAGGAAG	0.557												
TXN	7295	broad.mit.edu	37	9	113013693	113013693	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:113013693A>G	uc004bep.1	-	2	137	c.74T>C	c.(73-75)GTT>GCT	p.V25A	TXN_uc004beq.1_Missense_Mutation_p.V25A	NM_003329	NP_003320	P10599	THIO_HUMAN	thioredoxin	25	Thioredoxin.				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity				0				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		TGAGAAGTCAACTACTACAAG	0.353												
SVEP1	79987	broad.mit.edu	37	9	113141745	113141745	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:113141745T>C	uc010mtz.2	-	44	10627	c.10290A>G	c.(10288-10290)GTA>GTG	p.V3430V	SVEP1_uc010mty.2_Silent_p.V1356V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3430	Sushi 34.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ATTGATAATGTACGCCTCGAG	0.398												
ZNF483	158399	broad.mit.edu	37	9	114304767	114304767	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:114304767A>G	uc004bff.2	+	6	1776	c.1552A>G	c.(1552-1554)ACT>GCT	p.T518A	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	518					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						GAGAATTCATACTGGAGAAAA	0.388												
C9orf84	158401	broad.mit.edu	37	9	114453907	114453907	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:114453907T>C	uc004bfr.2	-	25	4293	c.4158A>G	c.(4156-4158)CAA>CAG	p.Q1386Q	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Silent_p.Q1347Q|C9orf84_uc010mug.2_Silent_p.Q1297Q	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1386										ovary(2)	2						TTCCAGCTCTTTGGTAGAAAT	0.358												
ZFP37	7539	broad.mit.edu	37	9	115805377	115805377	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:115805377A>G	uc004bgm.1	-	4	1549	c.1521T>C	c.(1519-1521)CAT>CAC	p.H507H	ZFP37_uc011lwz.1_Silent_p.H522H|ZFP37_uc011lxa.1_Silent_p.H508H	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	507	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GAGTTCTCATATGGTAAGTAA	0.368												
DBC1	1620	broad.mit.edu	37	9	121929807	121929807	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:121929807G>A	uc004bkc.2	-	8	2297	c.1841C>T	c.(1840-1842)ACG>ATG	p.T614M		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	614					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GATGTGGACCGTCTCGAAAAA	0.552												
CRB2	286204	broad.mit.edu	37	9	126133621	126133621	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:126133621G>A	uc004bnx.1	+	8	2292	c.2200G>A	c.(2200-2202)GGG>AGG	p.G734R	CRB2_uc004bnw.1_Missense_Mutation_p.G734R	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	734	Extracellular (Potential).|Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GCTCAGCTTCGGGCCTGACCA	0.692												
CRB2	286204	broad.mit.edu	37	9	126134595	126134595	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:126134595G>A	uc004bnx.1	+	9	2668	c.2576G>A	c.(2575-2577)TGT>TAT	p.C859Y	CRB2_uc004bnw.1_Missense_Mutation_p.C859Y	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	859	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CCTGCCACGTGTGAGGAGGTC	0.408												
PPP6C	5537	broad.mit.edu	37	9	127911967	127911967	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:127911967C>T	uc004bpg.3	-	7	1124	c.903G>A	c.(901-903)ACG>ACA	p.T301T	PPP6C_uc010mwv.2_Silent_p.T338T|PPP6C_uc010mww.2_Silent_p.T279T|PPP6C_uc011lzr.1_Silent_p.T154T	NM_002721	NP_002712	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit isoform	301					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(1)|skin(1)	2						GGAAATATGGCGTTGTCGTTC	0.418												
ZBTB43	23099	broad.mit.edu	37	9	129596068	129596068	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:129596068C>T	uc004bql.2	+	3	1553	c.1280C>T	c.(1279-1281)CCG>CTG	p.P427L	ZBTB43_uc010mxf.2_Missense_Mutation_p.P427L	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGCATAAAGCCGTATGAGTGT	0.488												
FPGS	2356	broad.mit.edu	37	9	130571113	130571113	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:130571113C>T	uc004bsg.1	+	11	1055	c.1005C>T	c.(1003-1005)CTC>CTT	p.L335L	FPGS_uc004bsh.1_Silent_p.L152L|FPGS_uc011mal.1_Silent_p.L309L|FPGS_uc004bsi.1_Silent_p.L285L	NM_004957	NP_004948	Q05932	FOLC_HUMAN	folylpolyglutamate synthase isoform a precursor	335					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity				0					L-Glutamic Acid(DB00142)	GGCCAGGGCTCCTGTGGCAGC	0.657												
NAIF1	203245	broad.mit.edu	37	9	130829050	130829050	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:130829050C>T	uc004bta.2	-	1	550	c.331G>A	c.(331-333)GGT>AGT	p.G111S	NAIF1_uc004bsz.2_Intron|SLC25A25_uc004btb.2_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	111	Gly-rich.				apoptosis|induction of apoptosis	nucleus					0						CCACTGCCACCGCCTGTCCCA	0.701												
SLC25A25	114789	broad.mit.edu	37	9	130868770	130868770	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:130868770T>C	uc004bte.2	+	8	1074	c.1045T>C	c.(1045-1047)TAT>CAT	p.Y349H	SLC25A25_uc004btb.2_Missense_Mutation_p.Y383H|SLC25A25_uc004btc.2_Missense_Mutation_p.Y369H|SLC25A25_uc004btd.2_Missense_Mutation_p.Y381H|SLC25A25_uc004btf.2_Missense_Mutation_p.Y246H	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	349	Solcar 2.|Helical; Name=4; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0						CATCATCCCCTATGCCGGCAT	0.592												
CIZ1	25792	broad.mit.edu	37	9	130941148	130941148	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:130941148C>A	uc004btt.2	-	8	1501	c.1338G>T	c.(1336-1338)CAG>CAT	p.Q446H	CIZ1_uc004btr.2_Missense_Mutation_p.Q418H|CIZ1_uc004bts.2_Missense_Mutation_p.Q417H|CIZ1_uc011maq.1_Missense_Mutation_p.Q385H|CIZ1_uc004btu.2_Missense_Mutation_p.Q366H|CIZ1_uc011mar.1_Missense_Mutation_p.Q345H|CIZ1_uc011mas.1_Missense_Mutation_p.Q476H|CIZ1_uc004btw.2_Missense_Mutation_p.Q390H|CIZ1_uc004btv.2_Missense_Mutation_p.Q446H|CIZ1_uc004btx.2_Missense_Mutation_p.Q422H	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	446	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						GAGGATGCTCCTGTGGCTGGA	0.617												
DNM1	1759	broad.mit.edu	37	9	130984785	130984785	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:130984785C>T	uc011mau.1	+	8	1125	c.1038C>T	c.(1036-1038)GGC>GGT	p.G346G	DNM1_uc010mxr.2_Silent_p.G346G|DNM1_uc011mat.1_Silent_p.G346G	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	346					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						GCATTGAGGGCTCAGGAGATC	0.592												
PPP2R4	5524	broad.mit.edu	37	9	131885369	131885369	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:131885369C>T	uc004bxm.1	+	3	435	c.168C>T	c.(166-168)AAC>AAT	p.N56N	PPP2R4_uc004bxl.1_Silent_p.N56N|PPP2R4_uc011mbo.1_Silent_p.N56N|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Silent_p.N56N|PPP2R4_uc004bxo.1_Silent_p.N56N|PPP2R4_uc011mbp.1_Intron|PPP2R4_uc011mbq.1_Silent_p.N56N|PPP2R4_uc010mys.1_Silent_p.N21N	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	56					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TTACCCTCAACGAAGGTGTGA	0.572												
LAMC3	10319	broad.mit.edu	37	9	133901811	133901811	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:133901811C>T	uc004caa.1	+	2	611	c.513C>T	c.(511-513)TAC>TAT	p.Y171Y		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	171	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGAAGACCTACGGCCGGCCCG	0.677												
BAT2L1	84726	broad.mit.edu	37	9	134360159	134360159	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:134360159C>T	uc004can.3	+	23	5602	c.5547C>T	c.(5545-5547)ACC>ACT	p.T1849T	BAT2L1_uc004cao.3_Silent_p.T1206T|BAT2L1_uc004cap.3_5'Flank|SNORD62A_uc004caq.2_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1849							protein binding				0						CCTTCCCCACCGCCGACCTTA	0.602												
GTF3C4	9329	broad.mit.edu	37	9	135553584	135553584	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:135553584T>C	uc010mzv.2	+	2	836	c.578T>C	c.(577-579)ATC>ACC	p.I193T	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	193					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CGCCTGACCATCCAGGCAAAT	0.507												
C9orf98	158067	broad.mit.edu	37	9	135739050	135739050	+	Splice_Site	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:135739050A>G	uc004cbu.1	-	4	889	c.333_splice	c.e4+1	p.K111_splice	C9orf98_uc010mzx.1_Splice_Site|C9orf98_uc004cbv.1_Splice_Site	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98							cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		GGCCAGTCCTACCTTCCTTTG	0.522												
ADAMTSL2	9719	broad.mit.edu	37	9	136406014	136406014	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:136406014C>T	uc011mdl.1	+	7	1130	c.573C>T	c.(571-573)GAC>GAT	p.D191D	ADAMTSL2_uc004cei.2_Silent_p.D191D	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	191					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TCGGCTGTGACGGGGTGCTTT	0.687												
SARDH	1757	broad.mit.edu	37	9	136594912	136594912	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:136594912A>G	uc004cep.3	-	6	1024	c.890T>C	c.(889-891)GTC>GCC	p.V297A	SARDH_uc004ceo.2_Missense_Mutation_p.V297A|SARDH_uc011mdn.1_Missense_Mutation_p.V297A|SARDH_uc011mdo.1_Missense_Mutation_p.V129A	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	297					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGCTCGGTGACGACATAGGC	0.507												
KIAA0649	9858	broad.mit.edu	37	9	138377333	138377333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:138377333G>A	uc004cfr.1	+	4	1526	c.977G>A	c.(976-978)CGC>CAC	p.R326H		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	326						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		ACCCCCTGCCGCCCTTCAGAA	0.622												
C9orf116	138162	broad.mit.edu	37	9	138387292	138387292	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:138387292C>A	uc004cft.1	-	3	456	c.392G>T	c.(391-393)AGG>ATG	p.R131M	C9orf116_uc004cfs.1_3'UTR|C9orf116_uc004cfu.1_RNA	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN	hypothetical protein LOC138162 isoform 1	131											0				OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GATGGATGGCCTGTTGATGTT	0.547												
NOTCH1	4851	broad.mit.edu	37	9	139400304	139400304	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:139400304G>A	uc004chz.2	-	25	4044	c.4044C>T	c.(4042-4044)GAC>GAT	p.D1348D	NOTCH1_uc004cia.1_Silent_p.D578D	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1348	Extracellular (Potential).|EGF-like 35.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTACGAGCGTCATTCTCAC	0.736			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
AGPAT2	10555	broad.mit.edu	37	9	139571443	139571443	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:139571443G>A	uc004cii.1	-	3	564	c.462C>T	c.(460-462)GCC>GCT	p.A154A	AGPAT2_uc004cij.1_Silent_p.A154A	NM_006412	NP_006403	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	154					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CGCCCAGGTCGGCCATCACTG	0.687												
FAM69B	138311	broad.mit.edu	37	9	139617494	139617494	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:139617494G>A	uc004cik.2	+	5	658	c.564G>A	c.(562-564)CGG>CGA	p.R188R	FAM69B_uc004cil.2_Silent_p.R101R|SNHG7_uc004cim.2_RNA	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	188	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		AGGACAACCGGGTGTCCCTGG	0.637												
C9orf86	55684	broad.mit.edu	37	9	139726255	139726255	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:139726255G>A	uc004cji.1	+	6	809	c.541G>A	c.(541-543)GGC>AGC	p.G181S	C9orf86_uc004cjm.2_Missense_Mutation_p.G181S|C9orf86_uc004cjh.2_Missense_Mutation_p.G181S|C9orf86_uc004cjj.1_Missense_Mutation_p.G181S|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.G181S|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.G66S	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	181	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		CCGGGACATGGGCGAGCACCG	0.632												
ABCA2	20	broad.mit.edu	37	9	139910762	139910762	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:139910762C>T	uc011mem.1	-	20	3230	c.3082G>A	c.(3082-3084)GCG>ACG	p.A1028T	ABCA2_uc011mel.1_Missense_Mutation_p.A1029T|ABCA2_uc004ckl.1_Missense_Mutation_p.A959T|ABCA2_uc004ckm.1_Missense_Mutation_p.A1059T|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1028	ABC transporter 1.|ATP 1 (Potential).				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)		GTCTTGCCCGCCCCGTTGTGG	0.622												
GRIN1	2902	broad.mit.edu	37	9	140055866	140055866	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140055866C>T	uc004clk.2	+	10	1795	c.1465C>T	c.(1465-1467)CGG>TGG	p.R489W	GRIN1_uc004cli.1_Missense_Mutation_p.R164W|GRIN1_uc004clj.1_Missense_Mutation_p.R486W|GRIN1_uc004cll.2_Missense_Mutation_p.R489W|GRIN1_uc004clm.2_Missense_Mutation_p.R489W|GRIN1_uc004cln.2_Missense_Mutation_p.R507W|GRIN1_uc004clo.2_Missense_Mutation_p.R507W	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	489	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CACACAGGAGCGGGTAGGCTG	0.652												
SLC34A3	142680	broad.mit.edu	37	9	140127764	140127764	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140127764C>T	uc004cmf.1	+	7	850	c.664C>T	c.(664-666)CTA>TTA	p.L222L	SLC34A3_uc004cmc.1_Silent_p.L79L|SLC34A3_uc004cmd.1_Silent_p.L222L|SLC34A3_uc011met.1_Silent_p.L222L	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	222	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCTAAGTGAGCTAGCCCTGGG	0.657												
FAM166A	401565	broad.mit.edu	37	9	140140252	140140252	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140140252C>T	uc004cmi.1	-	2	165	c.110G>A	c.(109-111)CGT>CAT	p.R37H		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	37										ovary(1)	1						CCCCGTGGTACGCCCATAGGT	0.612												
PNPLA7	375775	broad.mit.edu	37	9	140400150	140400150	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140400150G>A	uc004cnf.2	-	13	1651	c.1314C>T	c.(1312-1314)CAC>CAT	p.H438H	C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Silent_p.H463H	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	438				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCTCATCCGTGTGACTCTCTG	0.577												
PNPLA7	375775	broad.mit.edu	37	9	140416106	140416106	+	Silent	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140416106G>T	uc004cnf.2	-	9	1201	c.864C>A	c.(862-864)ACC>ACA	p.T288T	PNPLA7_uc011mfa.1_Silent_p.T19T|PNPLA7_uc010ncj.1_Silent_p.T313T	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	288					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGAGCTCTGTGGTCAGGCCGA	0.597												
EHMT1	79813	broad.mit.edu	37	9	140611266	140611266	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140611266G>A	uc011mfc.1	+	3	311	c.274G>A	c.(274-276)GCG>ACG	p.A92T	EHMT1_uc004coa.2_Missense_Mutation_p.A92T|EHMT1_uc004cob.1_Missense_Mutation_p.A61T	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	92					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)		AACTCGGATAGCGGAAAATGG	0.527												
CACNA1B	774	broad.mit.edu	37	9	141016165	141016165	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:141016165G>A	uc004cog.2	+	46	6879	c.6734G>A	c.(6733-6735)AGC>AAC	p.S2245N	CACNA1B_uc004coi.2_Missense_Mutation_p.S1457N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	2245	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GACCCCCTCAGCCAGCCCCTG	0.672												
SFRS17A	8227	broad.mit.edu	37	X	1712646	1712646	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:1712646C>T	uc004cqa.2	+	2	487	c.291C>T	c.(289-291)GAC>GAT	p.D97D	SFRS17A_uc010ncx.1_Silent_p.D97D|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	97	PKA-RI and PKA-RII subunit binding domain.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				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)				CCTGCCTGGACGGCAAGACCA	0.592												
DDX53	168400	broad.mit.edu	37	X	23018779	23018779	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:23018779A>G	uc004daj.2	+	1	693	c.605A>G	c.(604-606)AAC>AGC	p.N202S		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	202						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						GAAAATTTCAACATAACGTGT	0.383												
PRDX4	10549	broad.mit.edu	37	X	23685738	23685738	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:23685738C>A	uc004dam.2	+	1	94	c.51C>A	c.(49-51)CAC>CAA	p.H17Q		NM_006406	NP_006397	Q13162	PRDX4_HUMAN	peroxiredoxin 4	17					cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			upper_aerodigestive_tract(1)	1						ACGGCCGCCACCGAAGgctgc	0.577												
DMD	1756	broad.mit.edu	37	X	32383293	32383293	+	Silent	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:32383293T>C	uc004dda.1	-	35	5113	c.4869A>G	c.(4867-4869)AAA>AAG	p.K1623K	DMD_uc004dcw.2_Silent_p.K279K|DMD_uc004dcx.2_Silent_p.K282K|DMD_uc004dcz.2_Silent_p.K1500K|DMD_uc004dcy.1_Silent_p.K1619K|DMD_uc004ddb.1_Silent_p.K1615K|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1623	Spectrin 11.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCACCTTCTGTTTCTCAATCT	0.413												
DMD	1756	broad.mit.edu	37	X	32481581	32481581	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:32481581G>T	uc004dda.1	-	25	3651	c.3407C>A	c.(3406-3408)ACT>AAT	p.T1136N	DMD_uc004dcz.2_Missense_Mutation_p.T1013N|DMD_uc004dcy.1_Missense_Mutation_p.T1132N|DMD_uc004ddb.1_Missense_Mutation_p.T1128N|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1136	Spectrin 7.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCCCACTGAGTGTTAAGTTC	0.438												
GAGE1	2543	broad.mit.edu	37	X	49369669	49369669	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:49369669C>A	uc004dok.1	+	5	516	c.400C>A	c.(400-402)CTT>ATT	p.L134I	GAGE1_uc004doj.2_Missense_Mutation_p.L133I|GAGE1_uc004dol.1_Intron	NM_001468	NP_001459	Q13065	GAGE1_HUMAN	G antigen 1 isoform 1	134					cellular defense response						0	Ovarian(276;0.236)					CTTCTTAAATCTTTCCCCACG	0.284												
AKAP4	8852	broad.mit.edu	37	X	49958701	49958701	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:49958701G>A	uc004dow.1	-	5	787	c.663C>T	c.(661-663)GTC>GTT	p.V221V	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.V43V|AKAP4_uc004dou.1_Silent_p.V212V	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	221	PKA-RI and PKA-RII subunit binding domain (By similarity).				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					ATAGTCGGTTGACGTAGAAGG	0.453												
AKAP4	8852	broad.mit.edu	37	X	49962241	49962241	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:49962241C>T	uc004dow.1	-	3	252	c.128G>A	c.(127-129)TGC>TAC	p.C43Y	AKAP4_uc004dov.1_Missense_Mutation_p.C34Y|AKAP4_uc010njp.1_5'UTR|AKAP4_uc004dou.1_Missense_Mutation_p.C34Y	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	43					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					ATCGACAAAGCATATCTGCAT	0.343												
DGKK	139189	broad.mit.edu	37	X	50213598	50213598	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:50213598G>A	uc010njr.1	-	1	140	c.80C>T	c.(79-81)CCG>CTG	p.P27L		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	27					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					ccaaggcggcggaggcTCTGG	0.468												
SHROOM4	57477	broad.mit.edu	37	X	50378665	50378665	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:50378665G>A	uc004dpe.2	-	4	434	c.408C>T	c.(406-408)GAC>GAT	p.D136D	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Silent_p.D20D	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	136					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					GCACACACACGTCACTGTAAG	0.572												
MAGED1	9500	broad.mit.edu	37	X	51638632	51638632	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:51638632C>T	uc004dpm.2	+	3	624	c.529C>T	c.(529-531)CCT>TCT	p.P177S	MAGED1_uc004dpn.2_Missense_Mutation_p.P233S|MAGED1_uc004dpo.2_Missense_Mutation_p.P177S|MAGED1_uc011mnx.1_Missense_Mutation_p.P108S	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	177					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					CAACAGCAGGCCTAAGACCCC	0.517										Multiple Myeloma(10;0.10)		
MAGED1	9500	broad.mit.edu	37	X	51641391	51641391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:51641391G>A	uc004dpm.2	+	9	1844	c.1749G>A	c.(1747-1749)TGG>TGA	p.W583*	MAGED1_uc004dpn.2_Nonsense_Mutation_p.W639*|MAGED1_uc004dpo.2_Nonsense_Mutation_p.W583*	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	583	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					CTGTCCTCTGGGAGGCACTAC	0.567										Multiple Myeloma(10;0.10)		
SSX7	280658	broad.mit.edu	37	X	52677445	52677445	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:52677445A>C	uc004dqx.1	-	6	491	c.332T>G	c.(331-333)ATC>AGC	p.I111S		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)					CTTGGGCATGATCTTTATAAT	0.328												
FAM123B	139285	broad.mit.edu	37	X	63411525	63411525	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:63411525A>G	uc004dvo.2	-	2	1915	c.1642T>C	c.(1642-1644)TCC>CCC	p.S548P		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	548					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						GGTGGCCGGGAGGACAAAAAG	0.532												
ZC3H12B	340554	broad.mit.edu	37	X	64708739	64708739	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:64708739G>A	uc010nko.2	+	1	34	c.25G>A	c.(25-27)GAG>AAG	p.E9K		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	9							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3						CTCCAAGGAAGAGAAGCAGCA	0.498												
HEPH	9843	broad.mit.edu	37	X	65428058	65428058	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:65428058A>G	uc011moz.1	+	15	2602	c.2542A>G	c.(2542-2544)ACT>GCT	p.T848A	HEPH_uc004dwn.2_Missense_Mutation_p.T848A|HEPH_uc004dwo.2_Missense_Mutation_p.T578A|HEPH_uc010nkr.2_Missense_Mutation_p.T656A|HEPH_uc011mpa.1_Missense_Mutation_p.T848A|HEPH_uc010nks.2_Missense_Mutation_p.T137A	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	845	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GCTAGAATCTACTACTGTCTG	0.488												
NONO	4841	broad.mit.edu	37	X	70518613	70518613	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:70518613A>C	uc004dzo.2	+	12	1938	c.1228A>C	c.(1228-1230)ACC>CCC	p.T410P	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.T410P|NONO_uc004dzp.2_Missense_Mutation_p.T410P|NONO_uc011mpv.1_Missense_Mutation_p.T321P|NONO_uc004dzq.2_Missense_Mutation_p.T279P	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	410					DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)					GCCAGCTGGTACCCCAGCTCC	0.493			T	TFE3	papillary renal cancer							
ATRX	546	broad.mit.edu	37	X	76855269	76855269	+	Silent	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:76855269A>G	uc004ecp.3	-	24	5950	c.5718T>C	c.(5716-5718)AGT>AGC	p.S1906S	ATRX_uc004ecq.3_Silent_p.S1868S|ATRX_uc004eco.3_Silent_p.S1691S	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1906					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ATTCATCCATACTGTCTTCAT	0.308			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome					
PGK1	5230	broad.mit.edu	37	X	77359863	77359863	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:77359863T>G	uc004ecz.3	+	1	198	c.26T>G	c.(25-27)CTG>CGG	p.L9R	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_5'Flank	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	9					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2						AAGCTGACGCTGGACAAGCTG	0.567												
RPS6KA6	27330	broad.mit.edu	37	X	83359598	83359598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:83359598C>T	uc004eej.1	-	17	1600	c.1523G>A	c.(1522-1524)CGT>CAT	p.R508H	RPS6KA6_uc011mqt.1_Missense_Mutation_p.R508H|RPS6KA6_uc011mqu.1_Missense_Mutation_p.R405H	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	508	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TTTGAGAATACGGTCAAGTAA	0.333												
KLHL4	56062	broad.mit.edu	37	X	86888892	86888892	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:86888892G>A	uc004efb.2	+	8	1875	c.1693G>A	c.(1693-1695)GTT>ATT	p.V565I	KLHL4_uc004efa.2_Missense_Mutation_p.V565I	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	565	Kelch 3.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CACAGTTGGTGTTGTTGCATT	0.418												
DIAPH2	1730	broad.mit.edu	37	X	96013243	96013243	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:96013243G>A	uc004efu.3	+	4	829	c.433G>A	c.(433-435)GCC>ACC	p.A145T	DIAPH2_uc004eft.3_Missense_Mutation_p.A145T|DIAPH2_uc004efs.2_Missense_Mutation_p.A145T	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	145	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						GTATATTTCTGCCACTGCCAA	0.388												
RPA4	29935	broad.mit.edu	37	X	96139267	96139267	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:96139267C>T	uc004efv.3	+	1	256	c.-42C>T	c.(-44--40)GACGA>GATGA		DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	replication protein A4, 34kDa						DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding				0						GAGCCCCAGACGAGCCAAAGC	0.557								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
PCDH19	57526	broad.mit.edu	37	X	99663287	99663287	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:99663287G>A	uc010nmz.2	-	1	1985	c.309C>T	c.(307-309)CTC>CTT	p.L103L	PCDH19_uc004efw.3_Silent_p.L103L|PCDH19_uc004efx.3_Silent_p.L103L	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	103	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						ACATGACCTCGAGCGAGATGA	0.557												
TIMM8A	1678	broad.mit.edu	37	X	100601606	100601606	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:100601606C>T	uc004ehd.2	-	2	480	c.175G>A	c.(175-177)GCT>ACT	p.A59T		NM_004085	NP_004076	O60220	TIM8A_HUMAN	translocase of inner mitochondrial membrane 8	59	Twin CX3C motif.				nervous system development|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	protein binding				0						CAGGCCTCAGCCCGACTGTCC	0.488												
COL4A5	1287	broad.mit.edu	37	X	107867516	107867516	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:107867516C>T	uc004enz.1	+	34	3170	c.2968C>T	c.(2968-2970)CCA>TCA	p.P990S	COL4A5_uc011mso.1_Missense_Mutation_p.P990S|COL4A5_uc004eob.1_Missense_Mutation_p.P598S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	990	Triple-helical region.		Missing (in APSX; adult type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GCCTGGAGACCCAGGGCAACC	0.468									Alport_syndrome_with_Diffuse_Leiomyomatosis			
AMOT	154796	broad.mit.edu	37	X	112054536	112054536	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:112054536A>G	uc004epr.2	-	3	1478	c.1478T>C	c.(1477-1479)ATG>ACG	p.M493T	AMOT_uc004eps.2_Missense_Mutation_p.M84T|AMOT_uc004ept.1_Missense_Mutation_p.M493T	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	493	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						CTTGTTTCTCATGGCTTTCTC	0.478												
ODZ1	10178	broad.mit.edu	37	X	123519752	123519752	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:123519752T>C	uc004euj.2	-	28	5894	c.5830A>G	c.(5830-5832)ACT>GCT	p.T1944A	ODZ1_uc011muj.1_Missense_Mutation_p.T1950A|ODZ1_uc010nqy.2_Missense_Mutation_p.T1951A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1944	YD 10.|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						ATAAAAGAAGTGCTACTGTCC	0.512												
RAP2C	57826	broad.mit.edu	37	X	131351324	131351324	+	Translation_Start_Site	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:131351324G>T	uc004ewp.2	-	2	757	c.-27C>A	c.(-29--25)CTCTG>CTATG		uc004ewr.1_5'Flank|RAP2C_uc004ewo.2_Translation_Start_Site|RAP2C_uc010nrk.2_RNA|RAP2C_uc004ewq.3_Translation_Start_Site	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family precursor						negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					ACTCCTACCAGAGGGGGGGAA	0.488												
HS6ST2	90161	broad.mit.edu	37	X	131762868	131762868	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:131762868C>A	uc011mve.1	-	4	1617	c.1201G>T	c.(1201-1203)GGC>TGC	p.G401C	HS6ST2_uc011mvb.1_Missense_Mutation_p.G295C|HS6ST2_uc011mvc.1_Missense_Mutation_p.G255C|HS6ST2_uc011mvd.1_Missense_Mutation_p.G441C|HS6ST2_uc011mva.1_Missense_Mutation_p.G127C	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	401	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					TTGTAGCAGCCTACCAGGGTC	0.532												
GPC3	2719	broad.mit.edu	37	X	132888179	132888179	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:132888179T>C	uc004exe.1	-	3	552	c.362A>G	c.(361-363)CAT>CGT	p.H121R	GPC3_uc004exd.1_5'UTR|GPC3_uc010nrn.1_Missense_Mutation_p.H121R|GPC3_uc011mvh.1_Missense_Mutation_p.H105R|GPC3_uc010nro.1_Missense_Mutation_p.H67R|GPC3_uc010nrp.1_5'UTR	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	121						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTGGCATGGCGAACAAC	0.363			T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome			
GPR112	139378	broad.mit.edu	37	X	135431510	135431510	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:135431510C>T	uc004ezu.1	+	6	5936	c.5645C>T	c.(5644-5646)TCC>TTC	p.S1882F	GPR112_uc010nsb.1_Missense_Mutation_p.S1677F|GPR112_uc010nsc.1_Missense_Mutation_p.S1649F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1882	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CTTATGACTTCCTGGAACATA	0.433												
ARHGEF6	9459	broad.mit.edu	37	X	135763009	135763009	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:135763009G>T	uc004fab.2	-	15	2047	c.1585C>A	c.(1585-1587)CAT>AAT	p.H529N	ARHGEF6_uc011mwd.1_Missense_Mutation_p.H402N|ARHGEF6_uc011mwe.1_Missense_Mutation_p.H375N	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	529	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					TTGTTACAATGGACCACAATT	0.433												
IDS	3423	broad.mit.edu	37	X	148579680	148579680	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:148579680G>A	uc011mxe.1	-	5	864	c.666C>T	c.(664-666)GCC>GCT	p.A222A	IDS_uc011mxf.1_Silent_p.A132A|IDS_uc011mxg.1_Silent_p.A11A|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Silent_p.A11A|IDS_uc011mxh.1_Silent_p.A222A|IDS_uc011mxi.1_RNA	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	222						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GATACCCAACGGCCAGGAAGA	0.512												
SRPK3	26576	broad.mit.edu	37	X	153050931	153050931	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:153050931G>A	uc004fil.2	+	15	1692	c.1660G>A	c.(1660-1662)GCC>ACC	p.A554T	SRPK3_uc004fik.2_Missense_Mutation_p.A620T|SRPK3_uc010nul.2_Missense_Mutation_p.A478T|SRPK3_uc004fin.2_Missense_Mutation_p.A553T|SRPK3_uc004fim.2_Missense_Mutation_p.A520T	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	554	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	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)					CGAAAAGCGGGCCAGTGCCGC	0.617												
PDZD4	57595	broad.mit.edu	37	X	153073928	153073928	+	Silent	SNP	G	G	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:153073928G>A	uc004fiz.1	-	2	433	c.183C>T	c.(181-183)TCC>TCT	p.S61S	PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fix.2_5'UTR|PDZD4_uc004fja.1_Silent_p.S61S|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	61						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCGTGACAGGAGCTGTCCC	0.662												
HCFC1	3054	broad.mit.edu	37	X	153220508	153220508	+	Silent	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:153220508C>T	uc004fjp.2	-	17	3870	c.3342G>A	c.(3340-3342)ACG>ACA	p.T1114T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1114	HCF repeat 3.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGTGCCCGTCTCGTGGG	0.567												
FLNA	2316	broad.mit.edu	37	X	153587361	153587361	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:153587361C>T	uc004fkk.2	-	26	4714	c.4465G>A	c.(4465-4467)GGG>AGG	p.G1489R	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1489R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1489	Filamin 13.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTTTGGGCCCTTGCACTTTG	0.617												
RPL10	6134	broad.mit.edu	37	X	153631740	153631740	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:153631740C>T	uc004fkr.1	+	3	439	c.404C>T	c.(403-405)CCG>CTG	p.P135L	RPL10_uc004fkq.1_RNA|DNASE1L1_uc004fks.1_Intron|DNASE1L1_uc004fkt.1_Intron|DNASE1L1_uc004fku.1_Intron|DNASE1L1_uc004fkv.1_Intron|DNASE1L1_uc004fkw.1_Intron	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	Error:Variant_position_missing_in_P27635_after_alignment					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCAGGGACCGAGGGCTGCC	0.627												
DDX54	79039	broad.mit.edu	37	12	113600936	113600936	+	Splice_Site	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:113600936delC	uc001tup.2	-	16	2109	c.2081_splice	c.e16+1	p.G694_splice	DDX54_uc001tuq.3_Splice_Site_p.G694_splice	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54						estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						CAGCCACTCACCCCCGCTCGC	0.647												
TNFRSF9	3604	broad.mit.edu	37	1	7998254	7998254	+	Splice_Site	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAACGTACCTTTTTTTGTC	0.408												
DBT	1629	broad.mit.edu	37	1	100681758	100681758	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:100681757_100681757TA>T	uc001dta.3	-	6	589	c.556_splice	c.e6-1	p.I186_splice	DBT_uc010oug.2_Splice_Site_p.I5_splice|DBT_uc021oqo.1_Splice_Site_p.I186_splice	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	186					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		CAGCTTAATCTAAAAAATGAT	0.303												
AKNAD1	254268	broad.mit.edu	37	1	109369927	109369927	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378												
AHCTF1	25909	broad.mit.edu	37	1	247062817	247062817	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:247062816_247062816TA>T	uc001ibv.2	-	11	1557	c.1460_splice	c.e11-1	p.D487_splice	AHCTF1_uc009xgs.1_Splice_Site	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	478	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-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)			AAGTGGCATCTAAAAAAAAGA	0.308												
PCGF1	84759	broad.mit.edu	37	2	74732900	74732900	+	Splice_Site	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:74732899_74732899TG>T	uc002slz.3	-	6	557	c.531_splice	c.e6-1	p.S177_splice	LBX2_uc002slw.3_5'Flank|PCGF1_uc002sly.3_Splice_Site_p.S94_splice	NM_032673	NP_116062	Q9BSM1	PCGF1_HUMAN	Homo sapiens polycomb group ring finger 1 (PCGF1), mRNA.	177					histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAAT	0.527												
ANAPC1	64682	broad.mit.edu	37	2	112614258	112614259	+	Splice_Site	INS	-	-	T	rs4067742		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:112614257_112614258C>CT	uc002thi.3	-	13	1697	c.1450_splice	c.e13-1	p.K484_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	484					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361												
MST1	4485	broad.mit.edu	37	3	49722906	49722906	+	Splice_Site	DEL	G	G	-	rs11393273		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:49722905_49722905TG>T	uc003cxg.3	-	12	1495	c.1423_splice	c.e12+1	p.D475_splice		NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	461					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACTCCTAACCTGGGGGGTCCA	0.587												
WDFY3	23001	broad.mit.edu	37	4	85741342	85741342	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:85741341_85741341TA>T	uc003hpd.3	-	12	2000	c.1592_splice	c.e12-1	p.G531_splice	WDFY3_uc003hpf.3_Splice_Site_p.G531_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	531						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGAGTCCCCTAAAAAAAGGT	0.323												
DDX60	55601	broad.mit.edu	37	4	169182016	169182016	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:169182015_169182015CA>C	uc003irp.3	-	25	3690	c.3398_splice	c.e25+1	p.L1133_splice		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1133							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAATAACTTACAAAAAAAATA	0.388												
ADAMTS2	9509	broad.mit.edu	37	5	178559313	178559313	+	Splice_Site	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:178559312_178559312CT>C	uc003mjw.3	-	15	2312	c.2210_splice	c.e15-1	p.G737_splice		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	737	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTGATGTAACCTTTTTTTGAT	0.547												
TUBE1	51175	broad.mit.edu	37	6	112393106	112393106	+	Splice_Site	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:112393105_112393105CT>C	uc003pvq.3	-	11	1383	c.1269_splice	c.e11+1	p.K423_splice		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	423					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CAATAATTACCTTTTTCTTGT	0.338												
PDE10A	10846	broad.mit.edu	37	6	165844963	165844963	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:165844962_165844962TA>T	uc003qun.3	-	9	909	c.664_splice	c.e9-1	p.V222_splice	PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	222	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGTTGCAACCTAAAAAAAACA	0.328												
MLL3	58508	broad.mit.edu	37	7	151836879	151836879	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma							
DPP7	29952	broad.mit.edu	37	9	140006327	140006327	+	Splice_Site	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140006326_140006326AC>A	uc004clh.3	-	10	1237	c.1207_splice	c.e10+1	p.D403_splice		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	403						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	p.D403fs*1(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CAGCCTTACCACCCCCCCAGA	0.701												
RRP12	23223	broad.mit.edu	37	10	99130320	99130320	+	Splice_Site	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:99130319_99130319TG>T	uc001knf.3	-	23	2723	c.2584_splice	c.e23-1	p.V862_splice	RRP12_uc009xvl.3_Splice_Site|RRP12_uc009xvm.3_Splice_Site_p.V580_splice|RRP12_uc010qou.2_Splice_Site_p.V801_splice|RRP12_uc009xvn.3_Splice_Site_p.V762_splice	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	862						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CAGGATCACCTGGCCAAGACA	0.597												
GUCY2C	2984	broad.mit.edu	37	12	14796510	14796510	+	Splice_Site	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:14796509_14796509CT>C	uc001rcd.3	-	17	2067	c.1930_splice	c.e17+1	p.D644_splice		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	644	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ATTACAGACCCTTTTTTGGAG	0.388												
C14orf149	112849	broad.mit.edu	37	14	59946072	59946072	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333												
ITGA11	22801	broad.mit.edu	37	15	68617582	68617582	+	Splice_Site	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:68617581_68617581TG>T	uc010bib.3	-	18	2299	c.2212_splice	c.e18-1	p.D738_splice	ITGA11_uc002ari.3_Splice_Site_p.D738_splice	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	738					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGCAGTGTCCTGGGGGGTGGA	0.582												
ULK2	9706	broad.mit.edu	37	17	19729453	19729453	+	Splice_Site	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:19729452_19729452AT>A	uc002gwm.4	-	11	1344	c.835_splice	c.e11+1	p.S279_splice	ULK2_uc002gwn.3_Splice_Site_p.S279_splice	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	279					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGATACTCACATTTTTTTACT	0.294												
MAP2K3	5606	broad.mit.edu	37	17	21202191	21202192	+	Splice_Site	INS	-	-	C	rs33911218	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:21202190_21202191A>AC	uc002gys.3	+	3	382	c.117_splice	c.e3-1	p.T39_splice	MAP2K3_uc002gyt.3_Splice_Site_p.T10_splice|MAP2K3_uc021tsq.1_Splice_Site_p.T10_splice|MAP2K3_uc021tsr.1_Splice_Site_p.T10_splice	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	39					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TTCTCCACAGACCCCCCCGGAA	0.629												
CACNB1	782	broad.mit.edu	37	17	37341120	37341121	+	Splice_Site	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:37341119_37341120T>TG	uc002hrm.2	-	8	857	c.649_splice	c.e8-1	p.T217_splice	CACNB1_uc002hrl.1_Splice_Site|CACNB1_uc002hrn.3_Splice_Site_p.T217_splice|CACNB1_uc002hro.3_Splice_Site_p.T262_splice|CACNB1_uc002hrp.2_Intron	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	217				T -> S (in Ref. 3; AAA36167).	axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATGCTCTGTCTGGGGGGGGAAG	0.629												
APPBP2	10513	broad.mit.edu	37	17	58541474	58541474	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:58541473_58541473TA>T	uc002iys.1	-	6	961	c.673_splice	c.e6-1	p.A225_splice	APPBP2_uc010ddl.1_Splice_Site_p.A154_splice	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	225					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTTGTATGCCTAAAAAAATTA	0.323												
SLC17A7	57030	broad.mit.edu	37	19	49937128	49937129	+	Splice_Site	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:49937127_49937128T>TG	uc002pnp.3	-	7	897	c.725_splice	c.e7-1	p.G242_splice	SLC17A7_uc002pnq.1_Intron|SLC17A7_uc002pno.3_Splice_Site	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	242					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGAAGCTGCCTGGGGGGGTCAG	0.678												
SYCP2	10388	broad.mit.edu	37	20	58494655	58494655	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:58494654_58494654TA>T	uc002yaz.3	-	5	437	c.298_splice	c.e5-1	p.M100_splice	SYCP2_uc010gju.1_Splice_Site_p.M1_splice	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	100					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)			GGCAACCATGTAAAAAAAGGA	0.294												
RERE	473	broad.mit.edu	37	1	8420317	8420318	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:8420317_8420318insC	uc001ape.2	-	19	4059_4060	c.3249_3250insG	c.(3247-3252)GGGTCGfs	p.G1083fs	RERE_uc001apf.2_Frame_Shift_Ins_p.G1083fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.G815fs|RERE_uc001apd.2_Frame_Shift_Ins_p.G529fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1083_1084	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)		GGGCAGGACGACCCCCCCGCTA	0.718												
PIK3R3	8503	broad.mit.edu	37	1	46521525	46521525	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:46521525delT	uc001cpb.3	-	7	1639	c.883delA	c.(883-885)ATGfs	p.M295fs	PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Frame_Shift_Del_p.M312fs|PIK3R3_uc001cpc.3_Frame_Shift_Del_p.M295fs|PIK3R3_uc010olw.1_Frame_Shift_Del_p.M341fs|PIK3R3_uc010olv.1_Frame_Shift_Del_p.M85fs	NM_003629	NP_003620	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3	295					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					ATGCTATTCATTTTTTTATCT	0.428												
PPP3CB	5532	broad.mit.edu	37	10	75255610	75255615	+	In_Frame_Del	DEL	GGGGGC	GGGGGC	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:75255610_75255615delGGGGGC	uc001jue.2	-	1	168_173	c.33_38delGCCCCC	c.(31-39)CCGCCCCCA>CCA	p.11_13PPP>P	PPP3CB_uc001juf.2_In_Frame_Del_p.11_13PPP>P|PPP3CB_uc001jug.2_In_Frame_Del_p.11_13PPP>P|PPP3CB_uc001jui.2_In_Frame_Del_p.11_13PPP>P|PPP3CB_uc001juh.2_5'UTR|uc001juj.2_Intron	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	11_13	Catalytic.|Poly-Pro.									skin(1)	1	Prostate(51;0.0119)					gggcgggggtgggggcggTGCAGCCC	0.670												
MUC6	4588	broad.mit.edu	37	11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:1016412_1016414delGAG	uc001lsw.2	-	31	6438_6440	c.6387_6389delCTC	c.(6385-6390)TCCTCA>TCA	p.2129_2130SS>S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2129_2130	Ser-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)		GGGAGAAAATGAGGAGGACAGCT	0.522												
DDX54	79039	broad.mit.edu	37	12	113600936	113600936	+	Splice_Site	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:113600936delC	uc001tup.2	-	16	2109	c.2081_splice	c.e16+1	p.G694_splice	DDX54_uc001tuq.3_Splice_Site_p.G694_splice	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54						estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						CAGCCACTCACCCCCGCTCGC	0.647												
ZMYM2	7750	broad.mit.edu	37	13	20635264	20635264	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:20635264delA	uc001umr.2	+	18	3109	c.2811delA	c.(2809-2811)CTAfs	p.L937fs	ZMYM2_uc001ums.2_Frame_Shift_Del_p.L937fs|ZMYM2_uc001umt.2_Frame_Shift_Del_p.L937fs|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Frame_Shift_Del_p.L317fs|ZMYM2_uc001umw.2_Frame_Shift_Del_p.L390fs	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	937					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTGAGGAGCTAAAAAGCAAGG	0.423												
C13orf33	84935	broad.mit.edu	37	13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:31480852delG	uc001uth.3	+	1	541	c.200delG	c.(199-201)CGGfs	p.R67fs	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	67											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		gcggcggcgcgggggggcTTC	0.582												
PCDH8	5100	broad.mit.edu	37	13	53420095	53420095	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:53420095delC	uc001vhi.2	-	1	2680	c.2477delG	c.(2476-2478)GGCfs	p.G826fs	PCDH8_uc001vhj.2_Intron	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	826	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTTGCCGGTGCCAGGGAAGGT	0.706												
CD276	80381	broad.mit.edu	37	15	74000799	74000801	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:74000799_74000801delGAG	uc002avv.1	+	7	1723_1725	c.1489_1491delGAG	c.(1489-1491)GAGdel	p.E499del	CD276_uc010bjd.1_In_Frame_Del_p.E353del|CD276_uc002avu.1_In_Frame_Del_p.E499del|CD276_uc002avw.1_In_Frame_Del_p.E281del|CD276_uc010ulb.1_In_Frame_Del_p.E445del|CD276_uc002avx.2_RNA	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	499	Cytoplasmic (Potential).				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1						ACAGAGCTGTGAGGAGGAGAATG	0.537												
BCL7C	9274	broad.mit.edu	37	16	30903991	30903991	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:30903991delG	uc002dzv.2	-	4	492	c.358delC	c.(358-360)CAGfs	p.Q120fs	BCL7C_uc002dzt.1_Frame_Shift_Del_p.Q120fs|uc002dzu.2_Intron|MIR762_hsa-mir-762|MI0003892_5'Flank	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	120	Pro-rich.				apoptosis						0			Colorectal(24;0.198)			CGGCTGGGCTGGGGGGTGCCC	0.647												
OSGIN1	29948	broad.mit.edu	37	16	83991264	83991264	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:83991264delC	uc002fha.2	+	3	620	c.237delC	c.(235-237)AGCfs	p.S79fs	OSGIN1_uc002fhb.2_5'UTR|OSGIN1_uc002fhc.2_5'UTR	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	79					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0						CAGCCCCAAGCCCCCCACCAG	0.657												
CPNE7	27132	broad.mit.edu	37	16	89644102	89644102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:89644102delG	uc002fnp.2	+	2	460	c.330delG	c.(328-330)CTGfs	p.L110fs	CPNE7_uc002fnq.2_Frame_Shift_Del_p.L110fs	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	110	C2 1.				lipid metabolic process		transporter activity				0		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		ACGATTTCCTGGGGGGCATGG	0.647												
HDAC5	10014	broad.mit.edu	37	17	42160038	42160038	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:42160038delC	uc002ifd.1	-	20	2733	c.2522delG	c.(2521-2523)GGAfs	p.G841fs	HDAC5_uc002ife.1_Frame_Shift_Del_p.G841fs|HDAC5_uc002iff.1_Frame_Shift_Del_p.G842fs|HDAC5_uc010czp.1_Frame_Shift_Del_p.G756fs|HDAC5_uc002ifg.1_Frame_Shift_Del_p.G151fs|HDAC5_uc002ifh.2_Frame_Shift_Del_p.G841fs	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	841	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GAAGCAGAATCCCCTGAGGAG	0.557												
MBD2	8932	broad.mit.edu	37	18	51750910	51750910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:51750910delC	uc002lfg.1	-	1	249	c.20delG	c.(19-21)GGAfs	p.G7fs	MBD2_uc002lfh.1_Frame_Shift_Del_p.G7fs|SNORA37_uc002lfi.1_5'Flank	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	7	Gly-rich.				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	GCAGCGGCCTCCCCCCGGGTG	0.692												
MAP1S	55201	broad.mit.edu	37	19	17837574	17837574	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:17837574delC	uc002nhe.1	+	5	1390	c.1381delC	c.(1381-1383)CCCfs	p.P461fs	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Frame_Shift_Del_p.P461fs|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Frame_Shift_Del_p.P435fs	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	461	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CGTGGTGACGCCCCAGGACCT	0.716												
GDF15	9518	broad.mit.edu	37	19	18499387	18499387	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:18499387delG	uc002niv.2	+	2	601	c.569delG	c.(568-570)AGGfs	p.R190fs		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	190					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1						CAAGCCGCCAGGGGGCGCCGC	0.726											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MLL4	9757	broad.mit.edu	37	19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-	rs60207923	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:36210764delC	uc010eei.2	+	3	515	c.515delC	c.(514-516)ACCfs	p.T172fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	172					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGGCTCCTACCCCCCCAAAG	0.632												
SHANK1	50944	broad.mit.edu	37	19	51170817	51170817	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:51170817delG	uc002psx.1	-	22	4419	c.4400delC	c.(4399-4401)CCGfs	p.P1467fs	SHANK1_uc002psw.1_Frame_Shift_Del_p.P851fs	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1467					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTGCGGGGCCGGGGGCTCCGT	0.761												
TET3	200424	broad.mit.edu	37	2	74274036	74274037	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:74274036_74274037delTC	uc002skb.3	+	1	587_588	c.587_588delTC	c.(586-588)ATCfs	p.I196fs	TET3_uc010fez.1_Frame_Shift_Del_p.I196fs	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	196							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GTGCCCCAGATCTCTCCCCAAG	0.649												
POTEE	445582	broad.mit.edu	37	2	132021259	132021260	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:132021259_132021260insG	uc002tsn.2	+	15	2283_2284	c.2231_2232insG	c.(2230-2232)ATGfs	p.M744fs	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Frame_Shift_Ins_p.M344fs|POTEE_uc002tsl.2_Frame_Shift_Ins_p.M326fs|POTEE_uc010fmy.1_Frame_Shift_Ins_p.M208fs	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	744	Actin-like.						ATP binding				0						CAGGGCATGATGGGGGGCATGC	0.629												
ZRANB3	84083	broad.mit.edu	37	2	136033260	136033260	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:136033260delA	uc002tum.2	-	9	1149	c.1032delT	c.(1030-1032)TTTfs	p.F344fs	ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Frame_Shift_Del_p.F344fs|ZRANB3_uc002tun.1_Frame_Shift_Del_p.F284fs	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	344	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		AATGGTGAGCAAAAACCAGAA	0.318												
SLC4A10	57282	broad.mit.edu	37	2	162719484	162719485	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:162719484_162719485insA	uc002ubx.3	+	6	862_863	c.678_679insA	c.(676-681)CAGAAAfs	p.Q226fs	SLC4A10_uc010fpa.1_Frame_Shift_Ins_p.Q238fs|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Frame_Shift_Ins_p.Q226fs|SLC4A10_uc010zcs.1_Frame_Shift_Ins_p.Q237fs	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	226_227	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						ATCAGAATCAGAAAAAACTCAC	0.401												
MTX2	10651	broad.mit.edu	37	2	177194090	177194090	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:177194090delA	uc002ukx.2	+	8	714	c.479delA	c.(478-480)CAAfs	p.Q160fs	MTX2_uc002ukw.2_Frame_Shift_Del_p.Q150fs	NM_006554	NP_006545	O75431	MTX2_HUMAN	metaxin 2	160					protein targeting to mitochondrion	mitochondrial outer membrane				ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TTGGCCTATCAAAAACAGTGG	0.403												
SPEG	10290	broad.mit.edu	37	2	220349122	220349122	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:220349122delC	uc010fwg.2	+	30	6937	c.6937delC	c.(6937-6939)CCCfs	p.P2313fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2313	Pro-rich.				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)		TCCCACGGTGCCCCCCAGGCC	0.692												
CEP250	11190	broad.mit.edu	37	20	34078523	34078524	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:34078523_34078524insA	uc002xcm.2	+	22	3318_3319	c.2647_2648insA	c.(2647-2649)GAAfs	p.E883fs	CEP250_uc010zve.1_Frame_Shift_Ins_p.E251fs	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	883	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTAGAAAGGGAAAAAATGGAG	0.525												
NFATC2	4773	broad.mit.edu	37	20	50159027	50159027	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:50159027delG	uc002xwd.2	-	1	232	c.12delC	c.(10-12)CCCfs	p.P4fs	NFATC2_uc002xwc.2_Frame_Shift_Del_p.P4fs|NFATC2_uc010zyv.1_5'UTR|NFATC2_uc010zyw.1_5'UTR|NFATC2_uc010zyx.1_Intron|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	4					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					GCTGCCGCTCGGGGGCGTTCA	0.612												
PLXNA1	5361	broad.mit.edu	37	3	126735391	126735391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:126735391delC	uc003ejg.2	+	15	2981	c.2977delC	c.(2977-2979)CCCfs	p.P993fs		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1016	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GTGCCTGACACCCCCCGGGCA	0.627												
LRRC31	79782	broad.mit.edu	37	3	169579523	169579523	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:169579523delT	uc003fgc.1	-	2	331	c.254delA	c.(253-255)AAGfs	p.K85fs	LRRC31_uc010hwp.1_Frame_Shift_Del_p.K85fs	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	85										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GTTGACAGCCTTTTTGCCCAG	0.408												
USP13	8975	broad.mit.edu	37	3	179408081	179408081	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:179408081delT	uc003fkh.2	+	3	428	c.347delT	c.(346-348)ATTfs	p.I116fs	USP13_uc003fkf.2_Frame_Shift_Del_p.I116fs	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	116					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AATTCCAAGATTTTTTTAGGT	0.353												
RNF212	285498	broad.mit.edu	37	4	1075367	1075368	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:1075367_1075368delTT	uc003gcj.2	-	6	732_733	c.402_403delAA	c.(400-405)AAAAGTfs	p.K134fs	RNF212_uc003gch.2_5'UTR|RNF212_uc003gci.2_Frame_Shift_Del_p.K134fs|RNF212_uc010ibp.2_Intron|RNF212_uc010ibq.2_Intron	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	ring finger protein 212 isoform a	134_135							zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GAAACTGAACTTTTTATTGTGC	0.371												
CUL9	23113	broad.mit.edu	37	6	43191022	43191023	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:43191022_43191023delAG	uc003ouk.2	+	39	7246_7247	c.7171_7172delAG	c.(7171-7173)AGAfs	p.R2391fs	CUL9_uc003oul.2_Frame_Shift_Del_p.R2363fs|CUL9_uc010jyk.2_Frame_Shift_Del_p.R1543fs|CUL9_uc003oun.2_Frame_Shift_Del_p.R186fs	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2391					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						GCTGCGGTGCAGAGACCTGGCC	0.564												
SCIN	85477	broad.mit.edu	37	7	12680083	12680083	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:12680083delC	uc003ssn.3	+	11	1732	c.1522delC	c.(1522-1524)CCCfs	p.P508fs	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Frame_Shift_Del_p.P261fs	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	508	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGCACCTGCTCCCCCTACACG	0.458												
SND1	27044	broad.mit.edu	37	7	127724828	127724828	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:127724828delC	uc003vmi.2	+	19	2389	c.2163delC	c.(2161-2163)CACfs	p.H721fs	SND1_uc010lle.2_Frame_Shift_Del_p.H374fs	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	721					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						TTGCCAGTCACCCCCCTGTAG	0.557												
KIAA1549	57670	broad.mit.edu	37	7	138601643	138601643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:138601643delG	uc011kql.1	-	2	2778	c.2729delC	c.(2728-2730)CCAfs	p.P910fs	KIAA1549_uc003vuk.3_Frame_Shift_Del_p.P860fs|KIAA1549_uc011kqj.1_Frame_Shift_Del_p.P910fs	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	910						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						ACTACTCTCTGGGGGGCTCTG	0.627			O	BRAF	pilocytic astrocytoma							
DOCK5	80005	broad.mit.edu	37	8	25240190	25240190	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:25240190delA	uc003xeg.2	+	40	4164	c.4027delA	c.(4027-4029)AAAfs	p.K1343fs	PPP2R2A_uc003xek.2_Frame_Shift_Del_p.K132fs|DOCK5_uc003xei.2_Frame_Shift_Del_p.K913fs|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1343	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGTTTTCCAGAAAAAAAGGGC	0.408												
KIAA1539	80256	broad.mit.edu	37	9	35108148	35108148	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:35108148delC	uc003zwl.2	-	3	449	c.124delG	c.(124-126)GCGfs	p.A42fs	KIAA1539_uc003zwm.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwp.1_Frame_Shift_Del_p.A42fs|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	42						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGGATGTCGCCCCCCCTGCT	0.657												
ZNF483	158399	broad.mit.edu	37	9	114293219	114293222	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:114293219_114293222delTGTT	uc004bff.2	+	3	701_704	c.477_480delTGTT	c.(475-480)ACTGTTfs	p.T159fs	ZNF483_uc011lwq.1_Frame_Shift_Del_p.T159fs|ZNF483_uc004bfg.2_Frame_Shift_Del_p.T159fs	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	159_160					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AAATGGTCACTGTTTGTCCCAATA	0.377												
CXorf59	286464	broad.mit.edu	37	X	36162895	36162896	+	Frame_Shift_Ins	INS	-	-	T	rs138216098	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:36162895_36162896insT	uc004ddk.1	+	11	1664_1665	c.1478_1479insT	c.(1477-1479)CATfs	p.H493fs		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	493						integral to membrane				central_nervous_system(1)	1						agcaggatgcatttttttctcc	0.000												
USP9Y	8287	broad.mit.edu	37	Y	14847611	14847611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrY:14847611delT	uc004fst.1	+	8	1668	c.723delT	c.(721-723)CGTfs	p.R241fs	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	241					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						TGCATGATCGTTTTTTTAATG	0.279												
TNFRSF9	3604	broad.mit.edu	37	1	7998254	7998254	+	Splice_Site	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAACGTACCTTTTTTTGTC	0.408												
RCC2	55920	broad.mit.edu	37	1	17735597	17735597	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:17735596_17735596CG>C	uc001bal.3	-	11	1608	c.1559_1559CG>G	c.(1558-1560)cgafs	p.R520fs	RCC2_uc001bam.3_Frame_Shift_Del_p.R520fs	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	520					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		TCAGAGGGTTCGGGGGTTGTA	0.527												
MRTO4	51154	broad.mit.edu	37	1	19583571	19583571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:19583570_19583570CA>C	uc001bbs.3	+	3	459	c.204_204CA>C	c.(202-204)ggcfs	p.G68fs		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.	68					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTCTTTGGCAAAAACAAGG	0.537												
EIF4G3	8672	broad.mit.edu	37	1	21226332	21226332	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:21226331_21226331CT>C	uc001bec.3	-	10	1946	c.1690_1690AG>G	c.(1690-1692)gtgfs	p.V564fs	EIF4G3_uc010odi.2_Frame_Shift_Del_p.V168fs|EIF4G3_uc010odj.2_Frame_Shift_Del_p.V563fs|EIF4G3_uc009vpz.3_Frame_Shift_Del_p.V284fs|EIF4G3_uc001bef.3_Frame_Shift_Del_p.V563fs|EIF4G3_uc001bee.3_Frame_Shift_Del_p.V570fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	564					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACAGCTTTCACTTTTTTTAGG	0.438												
ARID1A	8289	broad.mit.edu	37	1	27107166	27107166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:27107165_27107165TG>T	uc001bmv.1	+	19	7149	c.6776_6776TG>T	c.(6775-6777)ttgfs	p.L2259fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.L2042fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.L1105fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.L587fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.L501fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2259					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.L2259fs*2(2)	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)		TCACGGCTGTTGGACATCTCG	0.527			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
MAP3K6	9064	broad.mit.edu	37	1	27685239	27685239	+	Frame_Shift_Del	DEL	G	G	-	rs34008139		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:27685238_27685238AG>A	uc001bny.1	-	18	2794	c.2545_2545CT>T	c.(2545-2547)ttcfs	p.F849fs	MAP3K6_uc009vsw.1_Frame_Shift_Del_p.F841fs|MAP3K6_uc001bnz.1_Frame_Shift_Del_p.F372fs	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	849	Protein kinase.				activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding	p.F709fs*40(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTCGTGGAAGGGGGGGCGA	0.622												
SYNC	81493	broad.mit.edu	37	1	33160673	33160675	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:33160672_33160674ACTC>A	uc001bvt.2	-	1	1125_1127	c.1025_1027GAGT>T	c.(1024-1029)gagtat>gTat	p.342_343EY>V	SYNC_uc010ohl.1_In_Frame_Del_p.342_343EY>V	NM_030786	NP_110413	Q9H7C4	SYNCI_HUMAN	Homo sapiens syncoilin, intermediate filament protein (SYNC), transcript variant 1, mRNA.	342	Linker 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGAGGCTCATACTCCTCCTCCAG	0.571												
ZMYM4	9202	broad.mit.edu	37	1	35825031	35825031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:35825030_35825030GT>G	uc001byt.3	+	2	670	c.590_590GT>G	c.(589-591)agtfs	p.S197fs	ZMYM4_uc009vuu.3_Frame_Shift_Del_p.S165fs|ZMYM4_uc001byu.3_Intron|ZMYM4_uc009vuv.3_5'UTR	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	197					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGAAAAGCAGTTTTTTTGAT	0.299												
TRIT1	54802	broad.mit.edu	37	1	40312897	40312897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:40312896_40312896CA>C	uc021olz.1	-	7	1016	c.1002_1002TG>G	c.(1000-1002)ttgfs	p.L334fs	TRIT1_uc001ced.4_Frame_Shift_Del_p.L30fs|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceh.4_Frame_Shift_Del_p.L88fs|TRIT1_uc009vvv.3_Intron|TRIT1_uc001cei.4_Frame_Shift_Del_p.L88fs|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Frame_Shift_Del_p.L30fs|TRIT1_uc001cek.3_Frame_Shift_Del_p.L30fs|TRIT1_uc009vvx.3_Intron|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Frame_Shift_Del_p.L252fs|TRIT1_uc001cen.3_Frame_Shift_Del_p.L88fs|TRIT1_uc001ceo.3_Frame_Shift_Del_p.L88fs|TRIT1_uc001cep.3_Frame_Shift_Del_p.L88fs	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	334					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTACTGCTCAAAAAACGGT	0.368												
PODN	127435	broad.mit.edu	37	1	53543377	53543377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:53543376_53543376TC>T	uc001cuv.3	+	6	1070	c.902_902TC>T	c.(901-903)atcfs	p.I301fs	PODN_uc010onr.2_Frame_Shift_Del_p.I282fs|PODN_uc010ons.2_Frame_Shift_Del_p.I159fs|PODN_uc001cuw.3_Frame_Shift_Del_p.I282fs	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	253					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGAGAAGATCCCCCCGGGG	0.617												
NFIA	4774	broad.mit.edu	37	1	61818150	61818150	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:61818149_61818149AT>A	uc010oos.2	+	5	945	c.863_863AT>A	c.(862-864)aatfs	p.N288fs	NFIA_uc001czy.3_Frame_Shift_Del_p.N235fs|NFIA_uc001czw.3_Frame_Shift_Del_p.N243fs|NFIA_uc001czv.3_Frame_Shift_Del_p.N243fs	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	243					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ACTGGCCCAAATTTTTCTCTC	0.383												
GBP7	388646	broad.mit.edu	37	1	89613322	89613323	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:89613321_89613322G>GC	uc001dna.2	-	7	1432_1433	c.1293_1294C>GC	c.(1291-1296)gggcacfs	p.G431fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	431						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436												
DBT	1629	broad.mit.edu	37	1	100681758	100681758	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:100681757_100681757TA>T	uc001dta.3	-	6	589	c.556_splice	c.e6-1	p.I186_splice	DBT_uc010oug.2_Splice_Site_p.I5_splice|DBT_uc021oqo.1_Splice_Site_p.I186_splice	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	186					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		CAGCTTAATCTAAAAAATGAT	0.303												
CEPT1	10390	broad.mit.edu	37	1	111703836	111703836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:111703835_111703835GT>G	uc001eah.1	+	3	754	c.546_546GT>G	c.(544-546)atgfs	p.M182fs	CEPT1_uc001eai.1_Frame_Shift_Del_p.M182fs|CEPT1_uc001eaj.1_Frame_Shift_Del_p.M182fs	NM_001007794	NP_006081	Q9Y6K0	CEPT1_HUMAN	Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA.	182						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	CTGATTGGATGTTTTTTTGTT	0.378												
PRUNE	58497	broad.mit.edu	37	1	151006351	151006351	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:151006350_151006350TA>T	uc001ewh.1	+	7	1138	c.1002_1002TA>T	c.(1000-1002)cctfs	p.P334fs	PRUNE_uc001ewi.1_Frame_Shift_Del_p.P152fs|PRUNE_uc010pco.1_Frame_Shift_Del_p.P102fs|PRUNE_uc001ewj.1_Frame_Shift_Del_p.P49fs|PRUNE_uc001ewk.1_Frame_Shift_Del_p.P99fs|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	Homo sapiens prune homolog (Drosophila) (PRUNE), mRNA.	334						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTACCCACCCTAACCTCCATG	0.512												
ZNF687	57592	broad.mit.edu	37	1	151261079	151261079	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:151261078_151261078AC>A	uc001exq.3	+	2	2288	c.2190_2190AC>A	c.(2188-2190)cgafs	p.R730fs	ZNF687_uc009wmo.3_Frame_Shift_Del_p.R730fs|ZNF687_uc009wmp.3_Frame_Shift_Del_p.R730fs	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATAAGAATCGACCCCCCCATG	0.582												
LCE1D	353134	broad.mit.edu	37	1	152770558	152770558	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:152770557_152770557CG>C	uc021ozh.1	+	0	287	c.287_287CG>C	c.(286-288)tcgfs	p.S96fs	LCE1D_uc009wnp.3_Frame_Shift_Del_p.S96fs	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	Homo sapiens late cornified envelope 1D (LCE1D), mRNA.	96	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGCCCTCGGGGGGCTCC	0.652												
SPRR2D	6703	broad.mit.edu	37	1	153012734	153012735	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:153012733_153012734C>CG	uc021ozq.1	-	0	89_90	c.89_90G>CG	c.(88-90)ccgfs	p.P30fs	SPRR2D_uc001fbb.2_Frame_Shift_Ins_p.P30fs	NM_006945	NP_008876	P22532	SPR2D_HUMAN	Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA.	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGACA	0.619												
TRIM46	80128	broad.mit.edu	37	1	155152179	155152179	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:155152178_155152178GC>G	uc001fhs.1	+	7	1439	c.1356_1356GC>G	c.(1354-1356)ctgfs	p.L452fs	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Frame_Shift_Del_p.L452fs|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Frame_Shift_Del_p.L326fs|TRIM46_uc001fhu.1_Frame_Shift_Del_p.L429fs|TRIM46_uc009wpg.1_Frame_Shift_Del_p.L439fs|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	452	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGCTGCCCCCCCATT	0.647												
BRP44	25874	broad.mit.edu	37	1	167889284	167889284	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:167889283_167889283CA>C	uc001ges.3	-	3	641	c.281_281TG>G	c.(280-282)tggfs	p.W94fs	BRP44_uc001geu.3_Frame_Shift_Del_p.W94fs|BRP44_uc001get.3_Frame_Shift_Del_p.W94fs	NM_015415	NP_056230	O95563	BR44_HUMAN	Homo sapiens brain protein 44 (BRP44), transcript variant 2, mRNA.	94						mitochondrion				breast(1)|kidney(1)|large_intestine(2)	4	all_hematologic(923;0.215)			KIRC - Kidney renal clear cell carcinoma(1967;0.247)		AAACAGACTCCAATTTTTTGG	0.353												
DCAF6	55827	broad.mit.edu	37	1	167962611	167962611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:167962610_167962610CT>C	uc001gew.3	+	6	1188	c.835_835CT>C	c.(835-837)cttfs	p.L279fs	DCAF6_uc001gex.3_Frame_Shift_Del_p.L279fs|DCAF6_uc010plk.2_Frame_Shift_Del_p.L248fs|DCAF6_uc001gev.3_Frame_Shift_Del_p.L279fs|DCAF6_uc001gey.3_Frame_Shift_Del_p.L132fs	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	279					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TTACATATATCTTTTTGACCC	0.408												
SOAT1	6646	broad.mit.edu	37	1	179304653	179304653	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:179304652_179304652AT>A	uc001gml.3	+	3	420	c.189_189AT>A	c.(187-189)ccafs	p.P63fs	SOAT1_uc010pni.2_5'UTR|SOAT1_uc001gmm.3_Frame_Shift_Del_p.P5fs|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_5'UTR	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AATTGAAGCCATTTTTTATGA	0.378												
B3GALT2	8707	broad.mit.edu	37	1	193149709	193149709	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:193149708_193149708TA>T	uc021pgr.1	-	0	985	c.985_985TA>A	c.(985-987)aaafs	p.K329fs	CDC73_uc001gtb.3_Intron|B3GALT2_uc001gtc.4_Frame_Shift_Del_p.K329fs	NM_003783	NP_003774	O43825	B3GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 (B3GALT2), mRNA.	329					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AAAGAAACTTTAAAAATCTTT	0.438												
RCOR3	55758	broad.mit.edu	37	1	211452638	211452638	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:211452637_211452637CA>C	uc010psw.2	+	6	894	c.699_699CA>C	c.(697-699)cccfs	p.P233fs	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Frame_Shift_Del_p.P233fs|RCOR3_uc001hif.3_Frame_Shift_Del_p.P233fs|RCOR3_uc001hig.3_Frame_Shift_Del_p.P175fs	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ATTATGATCCCAAAAAAGAAG	0.318												
TAF5L	27097	broad.mit.edu	37	1	229730519	229730520	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:229730518_229730519GAC>G	uc001htq.3	-	4	1461_1462	c.1295_1296GTC>C	c.(1294-1296)gtcfs	p.V432fs		NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	432					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGTGGAATTTGACACAGTCCAC	0.584												
AHCTF1	25909	broad.mit.edu	37	1	247062817	247062817	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:247062816_247062816TA>T	uc001ibv.2	-	11	1557	c.1460_splice	c.e11-1	p.D487_splice	AHCTF1_uc009xgs.1_Splice_Site	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	478	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-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)			AAGTGGCATCTAAAAAAAAGA	0.308												
ZNF496	84838	broad.mit.edu	37	1	247492781	247492782	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr1:247492780_247492781T>TC	uc009xgv.3	-	0	137_138	c.100_101A>GA	c.(100-102)gagfs	p.E34fs	ZNF496_uc001ico.3_Frame_Shift_Ins_p.E34fs|ZNF496_uc010pyv.1_Frame_Shift_Ins_p.E34fs	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	34					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCTGGGAAGCTCCCCCTGGGGG	0.688												
PXDN	7837	broad.mit.edu	37	2	1652984	1652984	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:1652983_1652983AG>A	uc002qxa.3	-	16	2633	c.2569_2569CT>T	c.(2569-2571)tgcfs	p.C857fs		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	857					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.C857fs*5(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACAGAGAAGCAGGGGGGGTCG	0.667												
USP34	9736	broad.mit.edu	37	2	61571087	61571087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:61571086_61571086AT>A	uc002sbe.3	-	15	2386	c.2364_2364AT>T	c.(2362-2364)aatfs	p.N788fs		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	788					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AATCAGCCATATTTTTTTCTG	0.403												
CCDC142	84865	broad.mit.edu	37	2	74701702	74701703	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:74701701_74701702G>GA	uc002slr.3	-	8	2617_2618	c.2224_2225C>TC	c.(2224-2226)tccfs	p.S742fs	MRPL53_uc002sln.3_5'Flank|CCDC142_uc002slo.3_Intron|CCDC142_uc002slq.3_Frame_Shift_Ins_p.S735fs|CCDC142_uc002slp.2_3'UTR	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	742										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCCCAGGCAGGAAAAAAACGGC	0.569												
PCGF1	84759	broad.mit.edu	37	2	74732900	74732900	+	Splice_Site	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:74732899_74732899TG>T	uc002slz.3	-	6	557	c.531_splice	c.e6-1	p.S177_splice	LBX2_uc002slw.3_5'Flank|PCGF1_uc002sly.3_Splice_Site_p.S94_splice	NM_032673	NP_116062	Q9BSM1	PCGF1_HUMAN	Homo sapiens polycomb group ring finger 1 (PCGF1), mRNA.	177					histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAAT	0.527												
LIPT1	51601	broad.mit.edu	37	2	99778504	99778504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:99778503_99778503TA>T	uc002szp.4	+	2	244	c.206_206TA>T	c.(205-207)gtafs	p.V69fs	MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Frame_Shift_Del_p.V28fs|LIPT1_uc002szn.4_Frame_Shift_Del_p.V28fs|LIPT1_uc002szo.4_Frame_Shift_Del_p.V28fs|LIPT1_uc002szq.4_Frame_Shift_Del_p.V28fs|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Frame_Shift_Del_p.V28fs|LIPT1_uc021vlo.1_Frame_Shift_Del_p.V28fs|LIPT1_uc021vlp.1_Frame_Shift_Del_p.V28fs	NM_145199	NP_660200	Q9Y234	LIPT_HUMAN	Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	28					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	AAAAAAACAGTAAAAAATGGG	0.383												
ANAPC1	64682	broad.mit.edu	37	2	112614258	112614259	+	Splice_Site	INS	-	-	T	rs4067742		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:112614257_112614258C>CT	uc002thi.3	-	13	1697	c.1450_splice	c.e13-1	p.K484_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	484					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361												
PSD4	23550	broad.mit.edu	37	2	113942980	113942980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:113942979_113942979CT>C	uc002tjc.3	+	3	1394	c.1211_1211CT>C	c.(1210-1212)cctfs	p.P404fs	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Frame_Shift_Del_p.P403fs|PSD4_uc002tjf.3_5'UTR	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	404					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGGAGGTCCTTTTTGGCCC	0.562												
SLC4A10	57282	broad.mit.edu	37	2	162719485	162719486	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:162719484_162719485G>GA	uc002ubx.4	+	5	862_863	c.678_679G>GA	c.(676-681)cagaaafs	p.Q226fs	SLC4A10_uc010fpa.1_Frame_Shift_Ins_p.Q238fs|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Frame_Shift_Ins_p.Q237fs|SLC4A10_uc002uby.4_Frame_Shift_Ins_p.Q226fs	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	226					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCAGAATCAGAAAAAACTCAC	0.401												
DHRS9	10170	broad.mit.edu	37	2	169938083	169938083	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:169938082_169938082AG>A	uc010zdc.2	+	1	283	c.171_171AG>A	c.(169-171)acafs	p.T57fs	DHRS9_uc002uep.3_5'UTR|DHRS9_uc002ueq.3_5'UTR|DHRS9_uc002uer.1_5'UTR|DHRS9_uc010zdd.2_5'UTR|DHRS9_uc010zde.2_5'UTR	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	0					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TATCACACACAGGGGGAAAAA	0.388												
LRP2	4036	broad.mit.edu	37	2	170042319	170042319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:170042318_170042318TG>T	uc002ues.3	-	49	9753	c.9540_9540CA>A	c.(9538-9540)ccafs	p.P3180fs		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3180	EGF-like 12; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGAGGTAGCCTGGGGCACACT	0.433												
TTN	7273	broad.mit.edu	37	2	179659863	179659863	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:179659862_179659862AG>A	uc021vsy.1	-	6	1257	c.1032_1032CT>T	c.(1030-1032)cctfs	p.P344fs	TTN_uc021vsz.1_Frame_Shift_Del_p.P344fs|TTN_uc021vta.1_Frame_Shift_Del_p.P344fs|TTN_uc021vtb.1_Frame_Shift_Del_p.P344fs|TTN_uc002unb.2_Frame_Shift_Del_p.P344fs|TTN_uc010frg.1_Frame_Shift_Del_p.P18fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	344							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGCTTCCAAGGGGGAGGCA	0.547												
CYP20A1	57404	broad.mit.edu	37	2	204150354	204150354	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:204150353_204150353GT>G	uc010zif.2	+	8	1515	c.893_893GT>G	c.(892-894)tgtfs	p.C298fs	CYP20A1_uc002uzv.4_Frame_Shift_Del_p.C290fs|CYP20A1_uc002uzx.4_Frame_Shift_Del_p.C188fs|CYP20A1_uc002uzy.4_Frame_Shift_Del_p.C188fs|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_Frame_Shift_Del_p.C20fs	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	290						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TGGGCAATCTGTTTTTTAACC	0.323												
ADAM23	8745	broad.mit.edu	37	2	207460861	207460862	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:207460860_207460861A>AC	uc002vbq.3	+	23	2556_2557	c.2333_2334A>AC	c.(2332-2334)cacfs	p.H778fs	ADAM23_uc010ziv.2_Intron	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455												
USP37	57695	broad.mit.edu	37	2	219346910	219346911	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:219346909_219346910CGA>C	uc010fvs.1	-	16	2131_2132	c.1718_1719TCG>G	c.(1717-1719)tcgfs	p.S573fs	USP37_uc002vie.2_Frame_Shift_Del_p.S573fs|USP37_uc010zkf.1_Frame_Shift_Del_p.S573fs|USP37_uc002vif.2_Frame_Shift_Del_p.S573fs|USP37_uc002vig.2_Frame_Shift_Del_p.S501fs	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	573					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TATTGTTAAGCGAGAGAGCCAC	0.391												
DOCK10	55619	broad.mit.edu	37	2	225729790	225729791	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:225729789_225729790C>CA	uc010fwz.1	-	11	1511_1512	c.1272_1273G>TG	c.(1270-1275)tttgtgfs	p.F424fs	DOCK10_uc002vob.2_Frame_Shift_Ins_p.F418fs|DOCK10_uc002vod.1_Frame_Shift_Ins_p.F424fs	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	424							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCCACACTCACAAAAAAAGGCT	0.401												
SPHKAP	80309	broad.mit.edu	37	2	228882616	228882617	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:228882615_228882616GCT>G	uc002vpq.2	-	6	3001_3002	c.2954_2955AGC>C	c.(2953-2955)agcfs	p.S985fs	SPHKAP_uc002vpp.2_Frame_Shift_Del_p.S985fs|SPHKAP_uc010zlx.1_Frame_Shift_Del_p.S985fs	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	985						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGCTCCCCTGGCTCTCTTTCTT	0.530												
NDUFA10	4705	broad.mit.edu	37	2	240954221	240954222	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr2:240954220_240954221T>TG	uc010fzc.2	-	5	825_826	c.724_725A>CA	c.(724-726)cacfs	p.H242fs	NDUFA10_uc002vyn.3_Frame_Shift_Ins_p.H202fs|NDUFA10_uc002vyo.2_Frame_Shift_Ins_p.H202fs	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535												
IQSEC1	9922	broad.mit.edu	37	3	12977614	12977614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:12977613_12977613AG>A	uc003bxt.2	-	2	954	c.945_945CT>T	c.(943-945)cctfs	p.P315fs	IQSEC1_uc003bxu.3_Frame_Shift_Del_p.P193fs|IQSEC1_uc011auw.1_Frame_Shift_Del_p.P301fs	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	315					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGAGGGGCAGAGGGGGCGACA	0.677												
KCNH8	131096	broad.mit.edu	37	3	19554728	19554729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:19554727_19554728A>AC	uc003cbk.1	+	12	2540_2541	c.2345_2346A>AC	c.(2344-2346)gacfs	p.D782fs	KCNH8_uc010hex.1_Frame_Shift_Ins_p.D243fs	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	782						integral to membrane	two-component sensor activity	p.N785fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGGAAATTGACCCCCCCAACC	0.470												
ZNF385D	79750	broad.mit.edu	37	3	21552445	21552445	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:21552444_21552444AT>A	uc003cce.3	-	3	756	c.348_348AT>T	c.(346-348)aatfs	p.N116fs	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	116						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTCTGCTTATTTTTCATGG	0.458												
CLASP2	23122	broad.mit.edu	37	3	33602361	33602362	+	Frame_Shift_Ins	INS	-	-	T	rs76701586		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:33602360_33602361A>AT	uc021wvc.1	-	27	3104_3105	c.2893_2894T>AT	c.(2893-2895)atgfs	p.M965fs	CLASP2_uc003cfs.3_Frame_Shift_Ins_p.M164fs|CLASP2_uc021wva.1_Frame_Shift_Ins_p.M39fs|CLASP2_uc021wvb.1_Frame_Shift_Ins_p.M744fs|CLASP2_uc011axt.1_Frame_Shift_Ins_p.M557fs	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATCAGCACCCATTTTTTTTAGT	0.342												
EPM2AIP1	9852	broad.mit.edu	37	3	37034280	37034281	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:37034279_37034280GCT>G	uc003cgk.3	-	0	516_517	c.289_290AGC>C	c.(289-291)gctfs	p.A97fs	MLH1_uc011aye.2_5'Flank|MLH1_uc003cgl.3_5'Flank|MLH1_uc011ayb.2_5'Flank|MLH1_uc010hge.3_5'Flank|MLH1_uc011ayc.2_5'Flank|MLH1_uc011ayd.2_5'Flank|MLH1_uc003cgo.3_5'Flank|MLH1_uc003cgn.4_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	Homo sapiens EPM2A (laforin) interacting protein 1 (EPM2AIP1), mRNA.	97						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TGCACGAGCAGCTCTCTCTTCA	0.649												
GOLGA4	2803	broad.mit.edu	37	3	37323751	37323751	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:37323750_37323750GA>G	uc003cgv.3	+	2	824	c.464_464GA>G	c.(463-465)ggafs	p.G155fs	GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgw.3_Frame_Shift_Del_p.G177fs|GOLGA4_uc010hgs.3_Frame_Shift_Del_p.G155fs|GOLGA4_uc003cgx.3_Frame_Shift_Del_p.G36fs|GOLGA4_uc003cgu.2_Frame_Shift_Del_p.G177fs	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	155	Interaction with MACF1.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCTACAGGGGAAAATATTCT	0.418												
BSN	8927	broad.mit.edu	37	3	49688112	49688113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:49688111_49688112A>AC	uc003cxe.4	+	3	1699_1700	c.1585_1586A>AC	c.(1585-1587)accfs	p.T529fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	529					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGAGAGCCGACCCCCCTGCCG	0.619												
MST1	4485	broad.mit.edu	37	3	49722906	49722906	+	Splice_Site	DEL	G	G	-	rs11393273		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:49722905_49722905TG>T	uc003cxg.3	-	12	1495	c.1423_splice	c.e12+1	p.D475_splice		NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	461					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACTCCTAACCTGGGGGGTCCA	0.587												
FLNB	2317	broad.mit.edu	37	3	58089788	58089788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:58089787_58089787TG>T	uc003djj.2	+	9	1750	c.1585_1585TG>T	c.(1585-1587)tggfs	p.W529fs	FLNB_uc010hne.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Del_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Del_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Del_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Del_p.W360fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	529					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCATCACATGGGGGGGACA	0.592												
ADAMTS9	56999	broad.mit.edu	37	3	64527285	64527286	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:64527284_64527285T>TG	uc003dmg.3	-	33	5241_5242	c.5209_5210A>CA	c.(5209-5211)cagfs	p.Q1737fs	ADAMTS9_uc011bfo.2_Frame_Shift_Ins_p.Q1709fs|ADAMTS9_uc011bfp.1_Frame_Shift_Ins_p.Q648fs	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1737	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTGCAATTCTGGGGTAACTCA	0.396												
EPHA3	2042	broad.mit.edu	37	3	89259454	89259454	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:89259453_89259453CA>C	uc003dqy.3	+	2	822	c.597_597CA>C	c.(595-597)ttcfs	p.F199fs	EPHA3_uc003dqx.1_Frame_Shift_Del_p.F199fs|EPHA3_uc021xbf.1_Frame_Shift_Del_p.F199fs	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	199	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GAGTATACTTCAAAAAGTGCC	0.453										TSP Lung(6;0.00050)		
CRYBG3	131544	broad.mit.edu	37	3	97661233	97661233	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:97661232_97661232TA>T	uc003drx.3	+	17	2989	c.2925_2925TA>T	c.(2923-2925)aatfs	p.N975fs	CRYBG3_uc021xbn.1_Frame_Shift_Del_p.N975fs|MINA_uc003dsa.1_3'UTR|MINA_uc003drz.1_3'UTR|MINA_uc003dsb.1_3'UTR|MINA_uc003dsc.1_3'UTR					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GGAGACTGAATAAAAATGGAA	0.438												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCC	0.632												
EAF2	55840	broad.mit.edu	37	3	121573659	121573659	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:121573658_121573658TA>T	uc003een.3	+	2	425	c.326_326TA>T	c.(325-327)gtafs	p.V109fs	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	109					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AACATCACTGTAAAAAAAACA	0.249												
HEG1	57493	broad.mit.edu	37	3	124731960	124731961	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:124731959_124731960ACT>A	uc011bke.2	-	6	2831_2832	c.2763_2764AGT>T	c.(2761-2766)gagtccfs	p.E921fs	HEG1_uc003ehs.4_Frame_Shift_Del_p.E821fs	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	821						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCTGTGGAGGACTCTGTTAAGG	0.470												
PODXL2	50512	broad.mit.edu	37	3	127379415	127379417	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:127379414_127379416AGAG>A	uc003ejq.2	+	2	567_569	c.543_545AGAG>A	c.(541-546)caagag>caAg	p.E188del		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	188	Glu-rich.				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						tagagaaacaagaggaggaggaa	0.547												
PLXND1	23129	broad.mit.edu	37	3	129303235	129303236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:129303234_129303235T>TG	uc003emx.2	-	5	2122_2123	c.2022_2023A>CA	c.(2020-2025)cccaacfs	p.P674fs		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	674					axon guidance	integral to membrane|intracellular|plasma membrane		p.N675fs*8(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TTACCCTGGTTGGGGGGGAAGG	0.639												
ACPP	55	broad.mit.edu	37	3	132036365	132036365	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:132036364_132036364CT>C	uc010htp.2	+	0	154	c.64_64CT>C	c.(64-66)cttfs	p.L22fs	ACPP_uc003eon.3_Frame_Shift_Del_p.L22fs|ACPP_uc003eop.4_Frame_Shift_Del_p.L22fs	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	22				SLGFLFLLFF -> AFASCFCFFC (in Ref. 5; CAA37673).|SLGFLFLLFF -> ALASCFCFFC (in Ref. 3; AAA60022 and 4; CAA36422).		extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTTGTTTCTGCTTTTTTTCTG	0.473												
AMOTL2	51421	broad.mit.edu	37	3	134079021	134079022	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:134079020_134079021T>TG	uc003eqf.2	-	6	2101_2102	c.1984_1985A>CA	c.(1984-1986)cagfs	p.Q662fs	AMOTL2_uc003eqg.1_Frame_Shift_Ins_p.Q604fs|AMOTL2_uc003eqh.1_Frame_Shift_Ins_p.Q602fs|AMOTL2_uc003eqe.1_Frame_Shift_Ins_p.Q229fs	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	604										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGTGAGGGCTGGGGGGAATGT	0.599												
SI	6476	broad.mit.edu	37	3	164781250	164781250	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:164781249_164781249TA>T	uc003fei.3	-	7	951	c.888_888TA>A	c.(886-888)ttafs	p.L296fs		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	296	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.L296fs*4(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCTATTCATTAAAAAAACAC	0.259										HNSCC(35;0.089)		
BCHE	590	broad.mit.edu	37	3	165547558	165547560	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:165547557_165547559CCAA>C	uc003fem.4	-	1	1423_1425	c.1263_1265TTGG>G	c.(1261-1266)gttggg>gtGg	p.G422del	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	422					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATTATAATCCCCAACAACATCAC	0.424												
PRKCI	5584	broad.mit.edu	37	3	170020907	170020908	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr3:170020906_170020907ATG>A	uc003fgs.2	+	17	2020_2021	c.1782_1783ATG>A	c.(1780-1785)gaatgtfs	p.E594fs	PRKCI_uc003fgt.2_Frame_Shift_Del_p.E149fs	NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	594	AGC-kinase C-terminal.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTGCAGAAGAATGTGTCTGATC	0.332												
QDPR	5860	broad.mit.edu	37	4	17492351	17492351	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:17492350_17492350CG>C	uc003gpd.3	-	5	744	c.564_564CG>G	c.(562-564)ccgfs	p.P188fs	QDPR_uc021xmo.1_Non-coding_Transcript|QDPR_uc003gpe.3_Frame_Shift_Del_p.P157fs	NM_000320	NP_000311	P09417	DHPR_HUMAN	Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA.	188					L-phenylalanine catabolic process|dihydrobiopterin metabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	p.P188T(1)|p.P188L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	TCCTGTTCATCGGGGTATCCA	0.502												
NPFFR2	10886	broad.mit.edu	37	4	73013327	73013327	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:73013326_73013326CA>C	uc003hgg.2	+	3	1464	c.1366_1366CA>C	c.(1366-1368)caafs	p.Q456fs	NPFFR2_uc010iig.2_Frame_Shift_Del_p.Q238fs|NPFFR2_uc003hgi.2_Frame_Shift_Del_p.Q357fs|NPFFR2_uc003hgh.2_Frame_Shift_Del_p.Q354fs	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	456					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.C455R(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CCAGCTCTGCCAAAAAAGAGC	0.438												
THAP9	79725	broad.mit.edu	37	4	83838382	83838382	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:83838381_83838381AT>A	uc003hnt.2	+	4	1135	c.1016_1016AT>A	c.(1015-1017)tatfs	p.Y339fs	THAP9_uc003hns.1_Frame_Shift_Del_p.Y195fs|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Frame_Shift_Del_p.Y56fs	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	339							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CCTCTTGGTTATTTTTTTGTA	0.418												
FHDC1	85462	broad.mit.edu	37	4	153864507	153864507	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:153864506_153864506CT>C	uc003inf.2	+	0	372	c.297_297CT>C	c.(295-297)agcfs	p.S99fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	99	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGATGAGAAGCTTTTTTTGGA	0.512												
KIAA0922	23240	broad.mit.edu	37	4	154525352	154525353	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:154525351_154525352AAC>A	uc010ipp.3	+	24	3239_3240	c.3187_3188AAC>A	c.(3187-3189)aacfs	p.N1063fs	KIAA0922_uc003inm.4_Frame_Shift_Del_p.N1062fs|KIAA0922_uc010ipq.3_Frame_Shift_Del_p.N831fs	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1062						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CACACTGAAAAACACAATTGTT	0.361												
FGG	2266	broad.mit.edu	37	4	155526202	155526202	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:155526201_155526201CT>C	uc003ioj.3	-	8	1288	c.1147_1147AG>G	c.(1147-1149)gcafs	p.A383fs	FGG_uc003iog.3_Frame_Shift_Del_p.A383fs	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	383	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGAGTAGATGCTTTTGAGTAA	0.378												
FAM198B	51313	broad.mit.edu	37	4	159091487	159091488	+	In_Frame_Ins	INS	-	-	GCT			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:159091486_159091487C>CGCT	uc003ipq.4	-	2	1330_1331	c.923_924G>AGCG	c.(922-924)gcg>gAGCG	p.A308E	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Intron|FAM198B_uc003ipr.4_Intron|FAM198B_uc003ips.3_3'UTR|AK126266_uc003ipt.1_5'Flank	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	308						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGGAAAGACACGCTGCTGCTGC	0.455												
DDX60	55601	broad.mit.edu	37	4	169173785	169173785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr4:169173784_169173784GT>G	uc003irp.3	-	26	3873	c.3581_3581AC>C	c.(3580-3582)accfs	p.T1194fs		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1194							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACATTTCTGGTTTTTTTCTG	0.323												
SLC12A7	10723	broad.mit.edu	37	5	1085356	1085357	+	Frame_Shift_Ins	INS	-	-	G	rs144700376		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:1085355_1085356C>CG	uc003jbu.3	-	6	974_975	c.908_909G>CG	c.(907-909)ccgfs	p.P303fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	303					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.P302P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	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)	ACGGGATGTCCGGGGGGTCGAA	0.649												
DNAH5	1767	broad.mit.edu	37	5	13701409	13701410	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:13701408_13701409T>TA	uc003jfd.2	-	76	13517_13518	c.13475_13476A>TA	c.(13474-13476)ttafs	p.L4492fs	DNAH5_uc003jfc.2_Frame_Shift_Ins_p.L660fs	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4492					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATTGCAGTTAAAAATCCCTG	0.396									Kartagener syndrome			
CDH10	1008	broad.mit.edu	37	5	24509853	24509853	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:24509852_24509852TA>T	uc003jgr.2	-	6	1585	c.1079_1079TA>A	c.(1078-1080)tatfs	p.Y360fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	360	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCTAGGTAATAAAAACGGGG	0.368										HNSCC(23;0.051)		
CDH6	1004	broad.mit.edu	37	5	31317806	31317806	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:31317805_31317805GA>G	uc003jhe.2	+	10	2016	c.1656_1656GA>G	c.(1654-1656)cggfs	p.R552fs	CDH6_uc003jhd.2_Frame_Shift_Del_p.R552fs	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	552	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTTAACTCGGAAAAATGGCT	0.443												
NNT	23530	broad.mit.edu	37	5	43619173	43619173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:43619172_43619172GT>G	uc003joe.3	+	4	893	c.638_638GT>G	c.(637-639)cgtfs	p.R213fs	NNT_uc003jof.3_Frame_Shift_Del_p.R213fs	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	213					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CATTTTGGACGTTTTTTTACT	0.313												
ITGA2	3673	broad.mit.edu	37	5	52358665	52358666	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:52358664_52358665GAC>G	uc003joy.3	+	12	1650_1651	c.1507_1508GAC>G	c.(1507-1509)gacfs	p.D503fs	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Frame_Shift_Del_p.D427fs|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	503					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGTGGATAAAGACACCATTACA	0.381												
BDP1	55814	broad.mit.edu	37	5	70805906	70805906	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:70805905_70805905GA>G	uc003kbp.1	+	16	3249	c.2986_2986GA>G	c.(2986-2988)gaafs	p.E996fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.E996fs|BDP1_uc003kbo.3_Frame_Shift_Del_p.E996fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	996	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATCCCCAAGGGAAAATGGCCC	0.463												
LMNB1	4001	broad.mit.edu	37	5	126168434	126168436	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:126168433_126168435AGAG>A	uc003kud.2	+	9	2545_2547	c.1659_1661AGAG>A	c.(1657-1662)gaagag>gaAg	p.553_554EE>E	LMNB1_uc010jdb.2_Non-coding_Transcript|LMNB1_uc011cxb.2_In_Frame_Del_p.343_344EE>E	NM_005573	NP_001185486	P20700	LMNB1_HUMAN	Homo sapiens lamin B1 (LMNB1), transcript variant 1, mRNA.	553	Glu-rich (highly acidic; could be involved in chromatin binding).|Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		TACCTGAAGAAGAGGAGGAGGAG	0.330												
SPRY4	81848	broad.mit.edu	37	5	141694154	141694154	+	Frame_Shift_Del	DEL	G	G	-	rs144353509		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:141694153_141694153CG>C	uc010jgi.1	-	2	831	c.590_590CG>G	c.(589-591)cggfs	p.R197fs	SPRY4_uc003lml.2_Frame_Shift_Del_p.R174fs|SPRY4_uc021yet.1_Frame_Shift_Del_p.R174fs	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	174	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGC	0.607									Testicular Cancer, Familial Clustering of			
YIPF5	81555	broad.mit.edu	37	5	143543785	143543785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:143543784_143543784GT>G	uc003lnk.4	-	3	761	c.320_320AC>C	c.(319-321)acafs	p.T107fs	YIPF5_uc003lnl.4_Frame_Shift_Del_p.T107fs|YIPF5_uc010jgl.3_Frame_Shift_Del_p.T53fs	NM_001024947	NP_110426	Q969M3	YIPF5_HUMAN	Homo sapiens Yip1 domain family, member 5 (YIPF5), transcript variant 1, mRNA.	107					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle|Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TACTGTTAGTGTTTTTTGCCA	0.333												
PPARGC1B	133522	broad.mit.edu	37	5	149210339	149210341	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:149210338_149210340GCTC>G	uc003lrc.3	+	3	565_567	c.474_476GCTC>G	c.(472-477)aagctc>aaGc	p.L161del	PPARGC1B_uc003lrb.2_In_Frame_Del_p.L161del|PPARGC1B_uc003lrd.3_Intron|PPARGC1B_uc021yfr.1_Intron|PPARGC1B_uc003lre.1_In_Frame_Del_p.L140del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.L140del	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	161					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCTGCAGAAGCTCCTCCTGGCC	0.611												
TIMD4	91937	broad.mit.edu	37	5	156349159	156349159	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:156349158_156349158AG>A	uc003lwh.2	-	6	1021	c.964_964CT>T	c.(964-966)tccfs	p.S322fs	TIMD4_uc010jii.2_Frame_Shift_Del_p.S294fs|TIMD4_uc003lwg.2_Frame_Shift_Del_p.S24fs	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	322						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATCCCAAGGAGGGGGCGATG	0.527												
ADAMTS2	9509	broad.mit.edu	37	5	178559313	178559313	+	Splice_Site	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr5:178559312_178559312CT>C	uc003mjw.3	-	15	2312	c.2210_splice	c.e15-1	p.G737_splice		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	737	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTGATGTAACCTTTTTTTGAT	0.547												
HIVEP1	3096	broad.mit.edu	37	6	12122472	12122473	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:12122471_12122472A>AC	uc003nac.3	+	3	2622_2623	c.2443_2444A>AC	c.(2443-2445)accfs	p.T815fs	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	815					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCACCTTTCACCCCTACTGAA	0.391												
PHACTR1	221692	broad.mit.edu	37	6	13206135	13206136	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:13206134_13206135T>TG	uc003nah.2	+	7	1125_1126	c.752_753T>TG	c.(751-753)gtgfs	p.V251fs	PHACTR1_uc011dir.2_Frame_Shift_Ins_p.V320fs|PHACTR1_uc010jpc.3_Frame_Shift_Ins_p.V251fs|PHACTR1_uc003nag.2_Frame_Shift_Ins_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)			TGTATGCCCGTGGGGGGGCCAG	0.599												
HIST1H1A	3024	broad.mit.edu	37	6	26017548	26017548	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:26017547_26017547CT>C	uc003nfo.3	-	0	494	c.414_414AG>G	c.(412-414)aagfs	p.K138fs		NM_005325	NP_005316	Q02539	H11_HUMAN	Homo sapiens histone cluster 1, H1a (HIST1H1A), mRNA.	138					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CCTTTTTGAGCTTTTTAGATG	0.502												
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Ins	INS	-	-	AC	rs146992654	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:29455155_29455156G>GAC	uc011dlq.2	-	0	524_525	c.524_525C>GTC	c.(523-525)gtcfs	p.V175fs		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	175						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGGGGAAGAGGACACACACACA	0.490												
HLA-C	3107	broad.mit.edu	37	6	31323363	31323363	+	Frame_Shift_Del	DEL	G	G	-	rs77061046		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:31323362_31323362TG>T	uc003nth.2	-	3	681	c.627_627CA>A	c.(625-627)ccafs	p.P209fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Del_p.P88fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	209	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGTGTGTCTTTGGGGGGTCTG	0.577												
RDBP	7936	broad.mit.edu	37	6	31926206	31926206	+	Frame_Shift_Del	DEL	G	G	-	rs146039608		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:31926205_31926205CG>C	uc003nyk.3	-	1	223	c.19_19CG>G	c.(19-21)ggafs	p.G7fs	RDBP_uc011dot.2_Frame_Shift_Del_p.G7fs|RDBP_uc021yvb.1_Frame_Shift_Del_p.G7fs|MIR1236_uc021yvc.1_5'Flank|SKIV2L_uc003nyn.1_5'Flank|SKIV2L_uc011dou.1_5'Flank|SKIV2L_uc011dov.1_5'Flank	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	7					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						TCGCTCAGTCCGGGGGGTATC	0.542												
BTNL2	56244	broad.mit.edu	37	6	32364081	32364081	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:32364080_32364080TG>T	uc003obg.1	-	4	814	c.814_814CA>A	c.(814-816)aagfs	p.K272fs	BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Frame_Shift_Del_p.K62fs	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	272	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GCATTCGCCTTGGGGGACAGG	0.517												
COL11A2	1302	broad.mit.edu	37	6	33152075	33152076	+	Frame_Shift_Ins	INS	-	-	G	rs147527758		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:33152074_33152075T>TG	uc003ocx.1	-	7	1194_1195	c.966_967A>CA	c.(964-969)cccacafs	p.P322fs	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	322	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.P321fs*21(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTCGGCTGTGGGGGGGACCT	0.604												
C6orf89	221477	broad.mit.edu	37	6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431												
GPR110	266977	broad.mit.edu	37	6	46977604	46977604	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:46977603_46977603GA>G	uc003oyt.3	-	10	1767	c.1568_1568TC>C	c.(1567-1569)tccfs	p.S523fs	GPR110_uc011dwl.2_Frame_Shift_Del_p.S211fs	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	523					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ctctaTCTTGGAAAAAAATAG	0.403												
DST	667	broad.mit.edu	37	6	56716255	56716256	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:56716254_56716255C>CT	uc021zay.1	-	1	277_278	c.151_152G>AG	c.(151-153)agafs	p.R51fs	DST_uc011dxl.1_Frame_Shift_Ins_p.R40fs|DST_uc021zba.1_Frame_Shift_Ins_p.R189fs	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	0	Actin-binding.|CH 1.				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	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGAATCTTTCTTTTCGATCTC	0.540											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
COL12A1	1303	broad.mit.edu	37	6	75797397	75797397	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:75797396_75797396AG>A	uc021zbv.1	-	63	9113	c.9078_9078CT>T	c.(9076-9078)cctfs	p.P3026fs	COL12A1_uc021zbw.1_Frame_Shift_Del_p.P1862fs|COL12A1_uc003phs.3_Frame_Shift_Del_p.P3026fs|COL12A1_uc003pht.3_Frame_Shift_Del_p.P1862fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	3026	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGACGGCCAGGGGGGCCAG	0.547												
DOPEY1	23033	broad.mit.edu	37	6	83838980	83838981	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:83838979_83838980C>CT	uc011dyy.2	+	15	2326_2327	c.2066_2067C>CT	c.(2065-2067)tctfs	p.S689fs	DOPEY1_uc003pjs.1_Frame_Shift_Ins_p.S698fs|DOPEY1_uc010kbl.1_Frame_Shift_Ins_p.S689fs	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	698					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAGAATAACTCTTTTTCTCAGT	0.416												
ASCC3	10973	broad.mit.edu	37	6	101296505	101296506	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:101296504_101296505AAC>A	uc003pqk.3	-	3	649_650	c.320_321GTT>T	c.(319-321)gttfs	p.V107fs	ASCC3_uc011eai.1_Frame_Shift_Del_p.V9fs|ASCC3_uc003pql.3_Frame_Shift_Del_p.V107fs|ASCC3_uc010kcv.3_Frame_Shift_Del_p.V107fs	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCTTGTGACCAACAGAGTCCTT	0.396												
REV3L	5980	broad.mit.edu	37	6	111696940	111696941	+	Frame_Shift_Ins	INS	-	-	A	rs3218594	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:111696939_111696940C>CA	uc003puy.4	-	12	2959_2960	c.2618_2619G>TG	c.(2617-2619)ttgfs	p.L873fs	REV3L_uc003pux.4_Frame_Shift_Ins_p.L795fs|REV3L_uc003puz.4_Frame_Shift_Ins_p.L795fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	873					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATCACTAGCCAATGCATTATC	0.356								DNA polymerases (catalytic subunits)				
TUBE1	51175	broad.mit.edu	37	6	112393106	112393106	+	Splice_Site	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:112393105_112393105CT>C	uc003pvq.3	-	11	1383	c.1269_splice	c.e11+1	p.K423_splice		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	423					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CAATAATTACCTTTTTCTTGT	0.338												
C6orf170	221322	broad.mit.edu	37	6	121629187	121629188	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:121629186_121629187TCA>T	uc003pyo.1	-	4	693_694	c.625_626TGA>A	c.(625-627)gaafs	p.E209fs	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	209					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		AGTCCAATTTTCACAGTTGAGG	0.342												
RNF146	81847	broad.mit.edu	37	6	127608767	127608767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:127608766_127608766AG>A	uc021zes.1	+	2	1144	c.1008_1008AG>A	c.(1006-1008)gcafs	p.A336fs	RNF146_uc021zet.1_Frame_Shift_Del_p.A335fs|RNF146_uc021zeu.1_Frame_Shift_Del_p.A335fs|RNF146_uc021zev.1_Frame_Shift_Del_p.A335fs|RNF146_uc021zew.1_Frame_Shift_Del_p.A336fs|RNF146_uc003qat.3_Frame_Shift_Del_p.A335fs|RNF146_uc021zex.1_Frame_Shift_Del_p.A335fs|RNF146_uc003qaw.3_Frame_Shift_Del_p.A335fs|RNF146_uc003qau.3_Frame_Shift_Del_p.A335fs|RNF146_uc003qav.3_Frame_Shift_Del_p.A336fs|RNF146_uc021zey.1_Frame_Shift_Del_p.A335fs	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	336					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GATCAGTAGCAGGGGGTGGAA	0.463												
MED23	9439	broad.mit.edu	37	6	131921295	131921295	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:131921294_131921294TA>T	uc003qcs.1	-	17	2278	c.2104_2104TA>A	c.(2104-2106)acafs	p.T702fs	MED23_uc003qcq.3_Frame_Shift_Del_p.T708fs|MED23_uc011eca.1_Frame_Shift_Del_p.T343fs|MED23_uc003qct.1_Frame_Shift_Del_p.T708fs	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	702					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TCAGAGCCTGTAAAAAAATCT	0.323												
ARID1B	57492	broad.mit.edu	37	6	157511329	157511329	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:157511328_157511328TG>T	uc003qqp.3	+	13	3807	c.3807_3807TG>T	c.(3805-3807)tttfs	p.F1269fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.F1282fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.F1322fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1269					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)		AGGACCCCTTTGGGGGAATGA	0.572												
PDE10A	10846	broad.mit.edu	37	6	165844963	165844963	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr6:165844962_165844962TA>T	uc003qun.3	-	9	909	c.664_splice	c.e9-1	p.V222_splice	PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	222	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGTTGCAACCTAAAAAAAACA	0.328												
DAGLB	221955	broad.mit.edu	37	7	6474591	6474591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:6474590_6474590TC>T	uc003sqa.3	-	3	651	c.481_481GA>A	c.(481-483)aaafs	p.K161fs	DAGLB_uc011jwt.2_5'UTR|DAGLB_uc011jwu.2_Intron|DAGLB_uc003sqb.3_Intron|DAGLB_uc003sqc.3_Intron|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Frame_Shift_Del_p.K120fs|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	161					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGAGCCATTTTCCCCCCAAGA	0.522												
HOXA2	3199	broad.mit.edu	37	7	27140493	27140493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:27140492_27140492GA>G	uc003syh.3	-	1	1259	c.984_984TC>C	c.(982-984)ttcfs	p.F328fs	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	328						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AATCTGTGGAGAAAACGCTAA	0.507												
AKAP9	10142	broad.mit.edu	37	7	91732039	91732039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:91732038_91732038TG>T	uc003ulg.3	+	45	11453	c.11228_11228TG>T	c.(11227-11229)atgfs	p.M3743fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.M3735fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.M3366fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.M1513fs|AKAP9_uc003ull.3_Frame_Shift_Del_p.M639fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAG	0.537			T	BRAF	papillary thyroid							
SRRT	51593	broad.mit.edu	37	7	100479332	100479333	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:100479331_100479332T>TG	uc003uwy.2	+	3	570_571	c.303_304T>TG	c.(301-306)gctgggfs	p.A101fs	SRRT_uc010lhl.1_Frame_Shift_Ins_p.A101fs|SRRT_uc003uxa.2_Frame_Shift_Ins_p.A101fs|SRRT_uc003uwz.2_Frame_Shift_Ins_p.A101fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	101					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609												
CUX1	1523	broad.mit.edu	37	7	101870784	101870785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:101870783_101870784A>AC	uc003uys.4	+	20	3427_3428	c.3300_3301A>AC	c.(3298-3303)ccaccafs	p.P1100fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Ins_p.P1089fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1089					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ACAGCAAGCCACCAGAGCCCAG	0.639												
C7orf49	78996	broad.mit.edu	37	7	134851448	134851448	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:134851447_134851447AC>A	uc003vsl.3	-	3	703	c.390_390GT>T	c.(388-390)ggtfs	p.G130fs	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Frame_Shift_Del_p.G101fs|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Frame_Shift_Del_p.G75fs|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Frame_Shift_Del_p.G75fs|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	130						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CAGAGCTGGAACCCCCCGGCC	0.592												
EPHB6	2051	broad.mit.edu	37	7	142561448	142561448	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:142561447_142561447AG>A	uc011kst.2	+	5	946	c.159_159AG>A	c.(157-159)ccafs	p.P53fs	EPHB6_uc011ksu.2_Frame_Shift_Del_p.P53fs|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	53						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTACCCACCAGGGGGGGTGA	0.577												
MLL3	58508	broad.mit.edu	37	7	151842328	151842329	+	Frame_Shift_Ins	INS	-	-	GGATTTC			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr7:151842327_151842328A>AGGATTTC	uc003wla.3	-	53	14303_14304	c.14084_14085T>GAAATCCT	c.(14083-14085)cctfs	p.P4695fs	MLL3_uc003wkz.3_Frame_Shift_Ins_p.P3813fs|MLL3_uc003wkx.3_Frame_Shift_Ins_p.P853fs|MLL3_uc003wky.3_Frame_Shift_Ins_p.P2259fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4695					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTCCATGAGAGGATTTCGGCC	0.460			N		medulloblastoma							
MCPH1	79648	broad.mit.edu	37	8	6479067	6479068	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:6479066_6479067G>GC	uc003wqi.3	+	12	2382_2383	c.2306_2307G>GC	c.(2305-2307)agcfs	p.S769fs		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	769	BRCT 3.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CCTGCCAGCAGCCCCCCAGTGG	0.663												
MSR1	4481	broad.mit.edu	37	8	16012628	16012629	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:16012627_16012628C>CT	uc010lsu.3	-	5	961_962	c.897_898G>AG	c.(895-900)aaaggafs	p.K299fs	MSR1_uc003wwz.3_Frame_Shift_Ins_p.K281fs|MSR1_uc003wxa.3_Frame_Shift_Ins_p.K281fs|MSR1_uc003wxb.3_Frame_Shift_Ins_p.K281fs|MSR1_uc011kxz.2_Frame_Shift_Ins_p.K55fs	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	281	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.G300C(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCTCGATCTCCTTTTTCACCCG	0.401												
SLC7A2	6542	broad.mit.edu	37	8	17406330	17406331	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:17406329_17406330C>CA	uc011kye.2	+	3	843_844	c.795_796C>CA	c.(793-798)ctcaaafs	p.L265fs	SLC7A2_uc011kyc.2_Frame_Shift_Ins_p.L225fs|SLC7A2_uc011kyd.2_Frame_Shift_Ins_p.L265fs	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	225					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AAGAGTTTCTCAAAAATATATC	0.332												
PSD3	23362	broad.mit.edu	37	8	18725322	18725322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:18725321_18725321TC>T	uc003wza.3	-	3	1600	c.1497_1497GA>A	c.(1495-1497)ggafs	p.G499fs		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	499					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.R498M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCTGATGTCCTCCCCCTGATG	0.498												
LOXL2	4017	broad.mit.edu	37	8	23155605	23155605	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:23155604_23155604CT>C	uc003xdh.1	-	13	2616	c.2277_2277AG>G	c.(2275-2277)aagfs	p.K759fs	LOXL2_uc010lty.1_Frame_Shift_Del_p.S261fs	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	759					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)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGTGCTCAAACTTTTTTTCCG	0.537												
KCNU1	157855	broad.mit.edu	37	8	36768518	36768519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:36768517_36768518T>TC	uc010lvw.3	+	21	2488_2489	c.2401_2402T>TC	c.(2401-2403)tccfs	p.S801fs	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	801						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCTGTCTTGTCCCCCCCACCC	0.525												
GINS4	84296	broad.mit.edu	37	8	41397247	41397247	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:41397246_41397246AG>A	uc003xnx.3	+	4	557	c.347_347AG>A	c.(346-348)gagfs	p.E116fs	GINS4_uc022aug.1_Intron	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	Homo sapiens GINS complex subunit 4 (Sld5 homolog) (GINS4), mRNA.	116					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			ACACGTCCTGAGGGGGAGCCT	0.512												
RB1CC1	9821	broad.mit.edu	37	8	53569839	53569839	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:53569838_53569838CT>C	uc003xre.4	-	14	3109	c.2551_2551AG>G	c.(2551-2553)gtafs	p.V851fs	RB1CC1_uc003xrf.4_Frame_Shift_Del_p.V851fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	851					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GAACATTTTACTTTTTCAATA	0.284												
RP1	6101	broad.mit.edu	37	8	55533979	55533979	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:55533978_55533978GC>G	uc003xsd.1	+	1	600	c.452_452GC>G	c.(451-453)cgcfs	p.R151fs	RP1_uc011ldy.1_Frame_Shift_Del_p.R151fs	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	151					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)			GGCATGCCCCGCCCCCCACGG	0.687												
CYP7B1	9420	broad.mit.edu	37	8	65509466	65509466	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:65509465_65509465TA>T	uc003xvj.2	-	5	1459	c.1255_1255TA>A	c.(1255-1257)atafs	p.I419fs		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	419					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CCATCTTCTATAAAACGATCA	0.363												
RIMS2	9699	broad.mit.edu	37	8	104933921	104933922	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:104933920_104933921C>CA	uc003yls.3	+	7	1679_1680	c.1438_1439C>CA	c.(1438-1440)caafs	p.Q480fs	RIMS2_uc003ylp.3_Frame_Shift_Ins_p.Q702fs|RIMS2_uc003ylw.2_Frame_Shift_Ins_p.Q510fs|RIMS2_uc003ylq.3_Frame_Shift_Ins_p.Q510fs|RIMS2_uc003ylr.3_Frame_Shift_Ins_p.Q557fs|RIMS2_uc003ylt.3_Frame_Shift_Ins_p.Q103fs|RIMS2_uc003ylv.1_Frame_Shift_Ins_p.Q93fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	780					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTTTGAATCTCAAAAAATGGAT	0.361										HNSCC(12;0.0054)		
ZC3H3	23144	broad.mit.edu	37	8	144620415	144620415	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:144620414_144620414TG>T	uc003yyd.2	-	1	1152	c.1123_1123CA>A	c.(1123-1125)agcfs	p.S375fs		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	375					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTGTACTTGCTGGGGGCAGAC	0.632												
GRINA	2907	broad.mit.edu	37	8	145065718	145065718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr8:145065717_145065717TC>T	uc003zan.1	+	1	492	c.326_326TC>T	c.(325-327)ttcfs	p.F109fs	GRINA_uc003zao.1_Frame_Shift_Del_p.F109fs|GRINA_uc003zap.1_Frame_Shift_Del_p.F109fs	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	109	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGAGCCCCTTCCCCCCCAAC	0.682												
TAF1L	138474	broad.mit.edu	37	9	32633025	32633025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:32633024_32633024CT>C	uc003zrg.1	-	0	2644	c.2554_2554AG>G	c.(2554-2556)gccfs	p.A852fs	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	852					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.A852fs*14(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAAGGAAAGGCTTTTTTTATA	0.443												
DNAJA1	3301	broad.mit.edu	37	9	33026949	33026949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:33026948_33026948GT>G	uc003zsd.1	+	2	453	c.270_270GT>G	c.(268-270)atgfs	p.M90fs	DNAJA1_uc011lnt.1_Intron|DNAJA1_uc003zse.1_Frame_Shift_Del_p.M90fs	NM_001539	NP_001530	P31689	DNJA1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 1 (DNAJA1), mRNA.	90	Gly-rich.				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TCTTTGATATGTTTTTTGGAG	0.443												
DNAJB5	25822	broad.mit.edu	37	9	34996554	34996554	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:34996553_34996553AC>A	uc011los.2	+	2	1080	c.719_719AC>A	c.(718-720)gacfs	p.D240fs	DNAJB5_uc003zvs.3_Frame_Shift_Del_p.D202fs|DNAJB5_uc003zvt.3_Frame_Shift_Del_p.D168fs	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	168					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			AAGGTGCAGGACCCCCCAGTG	0.622												
NAA35	60560	broad.mit.edu	37	9	88631566	88631567	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:88631565_88631566T>TA	uc004aoi.4	+	17	1817_1818	c.1680_1681T>TA	c.(1678-1683)agtaaafs	p.S560fs	NAA35_uc004aoj.4_Frame_Shift_Ins_p.S560fs	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	560					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.T563fs*10(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GCCGTAGTAGTAAAAAAACAAA	0.376												
ASB6	140459	broad.mit.edu	37	9	132400192	132400193	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:132400191_132400192CCA>C	uc004byf.2	-	5	1313_1314	c.1143_1144TGG>G	c.(1141-1146)gtggccfs	p.V381fs	ASB6_uc004bye.1_Frame_Shift_Del_p.V306fs|ASB6_uc010myx.2_Frame_Shift_Del_p.V352fs|ASB6_uc004byg.2_3'UTR|ASB6_uc011mbt.2_Frame_Shift_Del_p.V302fs	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 6 (ASB6), transcript variant 1, mRNA.	381	SOCS box.				intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				AGCCGGATGGCCACACGGCACA	0.629												
SLC2A6	11182	broad.mit.edu	37	9	136341419	136341420	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:136341418_136341419G>GC	uc004cee.3	-	3	597_598	c.502_503C>GC	c.(502-504)gctfs	p.A168fs	SLC2A6_uc004cef.3_Frame_Shift_Ins_p.A168fs|SLC2A6_uc004ceg.3_Frame_Shift_Ins_p.A168fs|SLC2A6_uc011mdj.1_Frame_Shift_Ins_p.A168fs	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	168						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGCCCCCAGAGCCCCACGAACG	0.629												
CAMSAP1	157922	broad.mit.edu	37	9	138713233	138713234	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:138713232_138713233C>CG	uc004cgr.4	-	10	3274_3275	c.3274_3275G>CG	c.(3274-3276)cggfs	p.R1092fs	CAMSAP1_uc004cgq.4_Frame_Shift_Ins_p.R982fs|CAMSAP1_uc010nbg.3_Frame_Shift_Ins_p.R814fs	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1092						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TTGACCCAGCCGGGGGGCTTTG	0.629												
DPP7	29952	broad.mit.edu	37	9	140006327	140006327	+	Splice_Site	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr9:140006326_140006326AC>A	uc004clh.3	-	10	1237	c.1207_splice	c.e10+1	p.D403_splice		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	403						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	p.D403fs*1(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CAGCCTTACCACCCCCCCAGA	0.701												
PFKP	5214	broad.mit.edu	37	10	3172106	3172107	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:3172105_3172106T>TG	uc001igp.3	+	16	1854_1855	c.1778_1779T>TG	c.(1777-1779)atgfs	p.M593fs	PFKP_uc001igq.3_Frame_Shift_Ins_p.M585fs|PFKP_uc009xhr.3_Frame_Shift_Ins_p.M555fs|PFKP_uc009xhs.1_Frame_Shift_Ins_p.M377fs|PFKP_uc009xht.3_Frame_Shift_Ins_p.M331fs|PFKP_uc009xhu.3_Frame_Shift_Ins_p.M99fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	593					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGGCCAACATGGGGGGGCTCG	0.639												
GATA3	2625	broad.mit.edu	37	10	8100728	8100728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:8100727_8100727TC>T	uc001ijz.3	+	2	1258	c.701_701TC>T	c.(700-702)ttcfs	p.F234fs	GATA3_uc001ika.3_Frame_Shift_Del_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						TCCGGACTCTTCCCCCCCAGC	0.692			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""					
FRMD4A	55691	broad.mit.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532												
DNAJC1	64215	broad.mit.edu	37	10	22208767	22208767	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:22208766_22208766AT>A	uc001irc.3	-	4	917	c.630_630AT>T	c.(628-630)aatfs	p.N210fs	DNAJC1_uc021pnz.1_Non-coding_Transcript	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	210					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTCACCTTTCATTTTTTTCTG	0.294												
JMJD1C	221037	broad.mit.edu	37	10	64974250	64974250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:64974249_64974249CT>C	uc001jmn.3	-	7	1978	c.1678_1678AG>G	c.(1678-1680)gatfs	p.D560fs	JMJD1C_uc001jml.3_Frame_Shift_Del_p.D341fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.D272fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.D378fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.D378fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Frame_Shift_Del_p.D272fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	560					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGGTCAGAATCTTTTTTTGCT	0.368												
H2AFY2	55506	broad.mit.edu	37	10	71851665	71851666	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:71851664_71851665A>AG	uc001jqm.3	+	3	890_891	c.431_432A>AG	c.(430-432)aagfs	p.K144fs		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	144	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	p.K147fs*53(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCAGGCAAGAAGGGGGGGAAGA	0.594												
KIAA0913	23053	broad.mit.edu	37	10	75558814	75558814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:75558813_75558813TG>T	uc001jvj.3	+	20	4470	c.4215_4215TG>T	c.(4213-4215)ggtfs	p.G1405fs	KIAA0913_uc001jve.3_Frame_Shift_Del_p.G1410fs|KIAA0913_uc009xrl.3_Frame_Shift_Del_p.G1405fs|KIAA0913_uc001jvf.3_Splice_Site_p.V1405_splice|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Del_p.G840fs|KIAA0913_uc010qkr.2_Frame_Shift_Del_p.G828fs|KIAA0913_uc009xrn.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1405							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CAGCTAAGGGTGGGGGCGTGT	0.562												
SAMD8	142891	broad.mit.edu	37	10	76910362	76910363	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:76910361_76910362C>CT	uc001jwx.2	+	1	178_179	c.75_76C>CT	c.(73-78)ggctttfs	p.G25fs	SAMD8_uc001jwy.2_Frame_Shift_Ins_p.G25fs	NM_001174156	NP_001167627	Q96LT4	SAMD8_HUMAN	Homo sapiens sterile alpha motif domain containing 8 (SAMD8), transcript variant 1, mRNA.	25	SAM.				sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGGATGAAGGCTTTTTTGAATA	0.460												
PTEN	5728	broad.mit.edu	37	10	89717719	89717720	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:89717718_89717719CTG>C	uc001kfb.3	+	6	1775_1776	c.743_744CTG>C	c.(742-744)cctfs	p.P248fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	248	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P248fs*5(17)|p.P248?(8)|p.R55fs*1(5)|p.L247*(3)|p.P248fs*4(2)|p.P248H(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.L247fs*4(2)|p.Y27fs*1(2)|p.C250fs*2(1)|p.V249fs*4(1)|p.L247F(1)|p.L247L(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.P246_L247insGP(1)|p.L247fs*6(1)|p.L247fs*5(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGCCGTTACCTGTGTGTGGTG	0.406		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
PTEN	5728	broad.mit.edu	37	10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-	rs121913289		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:89717769_89717769TA>T	uc001kfb.3	+	6	1826	c.794_794TA>T	c.(793-795)ctafs	p.L265fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	265	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.M264fs*8(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAGATGCTAAAAAAGGTT	0.348		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336476	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:98336474_98336475C>CT	uc001kmm.4	-	1	431_432	c.214_215G>AG	c.(214-216)agtfs	p.S72fs		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATGACTGATACTTTTTTTTGAC	0.361												
RRP12	23223	broad.mit.edu	37	10	99130320	99130320	+	Splice_Site	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:99130319_99130319TG>T	uc001knf.3	-	23	2723	c.2584_splice	c.e23-1	p.V862_splice	RRP12_uc009xvl.3_Splice_Site|RRP12_uc009xvm.3_Splice_Site_p.V580_splice|RRP12_uc010qou.2_Splice_Site_p.V801_splice|RRP12_uc009xvn.3_Splice_Site_p.V762_splice	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	862						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CAGGATCACCTGGCCAAGACA	0.597												
PSD	5662	broad.mit.edu	37	10	104174959	104174960	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:104174958_104174959T>TG	uc001kvg.1	-	3	1312_1313	c.785_786A>CA	c.(784-786)ccafs	p.P262fs	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Frame_Shift_Ins_p.P262fs	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	262					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.S48fs*38(1)|p.S263fs*38(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CAGGTGGAGATGGGGGGGCCTG	0.624												
DCLRE1A	9937	broad.mit.edu	37	10	115608957	115608957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:115608956_115608956CT>C	uc001law.2	-	1	2826	c.1908_1908AG>G	c.(1906-1908)aagfs	p.K636fs		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	636					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTCTACATCTCTTTTTTTGAC	0.363								Other identified genes with known or suspected DNA repair function				
INPP5F	22876	broad.mit.edu	37	10	121556339	121556340	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:121556338_121556339A>AC	uc001leo.3	+	6	997_998	c.781_782A>AC	c.(781-783)accfs	p.T261fs		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	261	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGCCCAGAGACCCCCCCTCAG	0.480												
WDR11	55717	broad.mit.edu	37	10	122665505	122665505	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:122665504_122665504CT>C	uc021pzt.1	+	26	3654	c.3408_3408CT>C	c.(3406-3408)tgcfs	p.C1136fs	WDR11_uc010qte.2_Frame_Shift_Del_p.C738fs|WDR11_uc001lfd.1_Frame_Shift_Del_p.C654fs|AX747838_uc001lfe.1_5'Flank|WDR11_uc021pzu.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1136						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTCTGGGCTGCTTTTTTAGCG	0.527												
UROS	7390	broad.mit.edu	37	10	127483521	127483521	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr10:127483520_127483520TA>T	uc001liw.4	-	7	722	c.589_589TA>A	c.(589-591)agtfs	p.S197fs	UROS_uc001lix.4_Frame_Shift_Del_p.S197fs	NM_000375	NP_000366	P10746	HEM4_HUMAN	Homo sapiens uroporphyrinogen III synthase (UROS), mRNA.	197					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	p.F196fs*44(1)		endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				CCAGAGGGACTAAAAAATGTG	0.448												
ATHL1	80162	broad.mit.edu	37	11	294680	294680	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:294679_294679GC>G	uc010qvu.2	+	13	2259	c.2144_2144GC>G	c.(2143-2145)agcfs	p.S715fs	ATHL1_uc001lor.4_Frame_Shift_Del_p.S467fs|ATHL1_uc001lou.4_Frame_Shift_Del_p.S290fs|ATHL1_uc001lov.4_Frame_Shift_Del_p.S176fs	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	715					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	p.S538I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCGCTCCAGAGCCCCCTCTGG	0.592												
OR52J3	119679	broad.mit.edu	37	11	5068683	5068683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5068682_5068682TA>T	uc010qyv.2	+	0	927	c.927_927TA>T	c.(925-927)actfs	p.T309fs		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTTTTTACTAAAAAATAAG	0.378												
OR56B1	387748	broad.mit.edu	37	11	5758619	5758620	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:5758618_5758619T>TC	uc001mbt.2	+	0	941_942	c.872_873T>TC	c.(871-873)atcfs	p.I291fs	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CACAACATCATCCCCCCTTCCC	0.406												
SMPD1	6609	broad.mit.edu	37	11	6413286	6413286	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:6413285_6413285TC>T	uc001mcw.3	+	1	1175	c.990_990TC>T	c.(988-990)cctfs	p.P330fs	SMPD1_uc021qcz.1_Frame_Shift_Del_p.P330fs|SMPD1_uc001mcv.2_Intron|SMPD1_uc009yew.3_Frame_Shift_Del_p.P329fs|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	328			P -> R (in NPDB).		cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	ATAGCTTCCCTCCCCCCTTCA	0.612												
SCUBE2	57758	broad.mit.edu	37	11	9051502	9051503	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:9051501_9051502A>AT	uc001mhi.2	-	17	2336_2337	c.2261_2262T>AT	c.(2260-2262)aatfs	p.N754fs	SCUBE2_uc021qdk.1_Frame_Shift_Ins_p.N230fs|SCUBE2_uc001mhj.2_Frame_Shift_Ins_p.N656fs	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	782						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AAACACAATTATTTTTTCCAAA	0.431												
AGBL2	79841	broad.mit.edu	37	11	47689211	47689212	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:47689210_47689211C>CT	uc001ngg.3	-	15	2554_2555	c.2252_2253G>AG	c.(2251-2253)aagfs	p.K751fs	AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Frame_Shift_Ins_p.K713fs	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	751					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	p.K751fs*19(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAAGTGACTTCTTTTTTTTCTT	0.366												
OR5I1	10798	broad.mit.edu	37	11	55703686	55703687	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:55703685_55703686G>GA	uc010ris.2	-	0	191_192	c.191_192C>TC	c.(190-192)ttcfs	p.F64fs		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGTTGCTAAGGAAAAAATACAT	0.376												
OR5M8	219484	broad.mit.edu	37	11	56258061	56258062	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:56258060_56258061A>AG	uc001nix.1	-	0	786_787	c.786_787T>CT	c.(784-789)ccctcafs	p.P262fs	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GATTCCTTTGAGGGGGGTCTGA	0.396												
SSRP1	6749	broad.mit.edu	37	11	57093935	57093937	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:57093934_57093936GTTC>G	uc001njt.3	-	16	2342_2344	c.2075_2077GAAC>C	c.(2074-2079)gaacta>gCta	p.692_693EL>A	TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	692	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GTACTGGCTAGTTCTTCTTCTTC	0.552												
ZFP91	80829	broad.mit.edu	37	11	58384785	58384787	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:58384784_58384786GAGA>G	uc001nmx.4	+	10	1486_1488	c.1318_1320GAGA>G	c.(1318-1320)gag>G	p.E440del	ZFP91_uc001nmy.4_In_Frame_Del_p.E439del|CNTF_uc010rkm.2_Non-coding_Transcript	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	440					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAAAAAATTTGAGAAGAAGGACA	0.468												
DTX4	23220	broad.mit.edu	37	11	58949550	58949551	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:58949549_58949550G>GC	uc001nns.2	+	1	806_807	c.549_550G>GC	c.(547-552)tcgcccfs	p.S183fs	DTX4_uc001nnr.2_Frame_Shift_Ins_p.S77fs	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	183					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CAGCCACCTCGCCCCCCATGTC	0.653												
PRPF19	27339	broad.mit.edu	37	11	60671329	60671330	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:60671328_60671329TAG>T	uc001nqf.3	-	1	231_232	c.24_25CTA>A	c.(22-27)tctaacfs	p.S8fs		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.	8	U-box.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.S8S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GGCACTTCGTTAGAGACTGTAG	0.510												
TMEM132A	54972	broad.mit.edu	37	11	60701069	60701069	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:60701068_60701068CG>C	uc001nqi.3	+	7	1607	c.1414_1414CG>C	c.(1414-1416)cggfs	p.R472fs	TMEM132A_uc001nqj.3_Frame_Shift_Del_p.R471fs|TMEM132A_uc001nqk.3_Frame_Shift_Del_p.R484fs|TMEM132A_uc001nql.1_3'UTR	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	471						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGGGGCGCCCGGGGGGTGCG	0.692												
ZBTB3	79842	broad.mit.edu	37	11	62519843	62519845	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:62519842_62519844GAGA>G	uc001nuz.3	-	1	1565_1567	c.1443_1445TCTC>C	c.(1441-1446)ttctca>ttCa	p.S482del		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F481L(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GTAAGAGCATGAGAAGGTCTTCC	0.552												
YIF1A	10897	broad.mit.edu	37	11	66055105	66055105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:66055104_66055104CG>C	uc001ohk.4	-	3	574	c.392_392CG>G	c.(391-393)cggfs	p.R131fs	YIF1A_uc009yrc.3_Frame_Shift_Del_p.R96fs	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Homo sapiens Yip1 interacting factor homolog A (S. cerevisiae) (YIF1A), mRNA.	131					protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment|Golgi membrane|centrosome|endoplasmic reticulum membrane|integral to membrane		p.R131L(2)|p.P130P(1)|p.P130R(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAG	0.622												
CD248	57124	broad.mit.edu	37	11	66083958	66083958	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:66083957_66083957GT>G	uc001ohm.1	-	0	559	c.542_542AC>C	c.(541-543)acgfs	p.T181fs		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	181	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GTGGAAGGGCGTGGTATACAC	0.677												
RAB30	27314	broad.mit.edu	37	11	82705151	82705151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:82705150_82705150TG>T	uc001ozu.3	-	3	369	c.108_108CA>A	c.(106-108)ccafs	p.P36fs	RAB30_uc009yve.3_Frame_Shift_Del_p.P34fs|RAB30_uc010rst.2_Frame_Shift_Del_p.P36fs|RAB30_uc001ozv.3_Frame_Shift_Del_p.P34fs|RAB30_uc009yvg.1_Intron	NM_014488	NP_055303	Q15771	RAB30_HUMAN	Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA.	36					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CTCCTTGACCTGGGGGGAAAA	0.378												
TYR	7299	broad.mit.edu	37	11	88911521	88911521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:88911520_88911520AT>A	uc001pcs.3	+	0	481	c.399_399AT>A	c.(397-399)aaafs	p.K133fs		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	133					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AGAAGGACAAATTTTTTGCCT	0.453												
MMP10	4319	broad.mit.edu	37	11	102647035	102647036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:102647034_102647035T>TC	uc001phg.2	-	5	945_946	c.908_909A>GA	c.(907-909)ggafs	p.G303fs		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	303	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		ACAGATATTCTCCCCTCAGAGT	0.431												
GUCY1A2	2977	broad.mit.edu	37	11	106810878	106810879	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:106810877_106810878C>CT	uc009yxn.1	-	3	904_905	c.514_515G>AG	c.(514-516)agafs	p.R172fs	GUCY1A2_uc001pjg.1_Frame_Shift_Ins_p.R172fs|GUCY1A2_uc010rvo.1_Frame_Shift_Ins_p.R172fs	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	172					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCACCAAATCTTTTTTGAATT	0.337												
RDX	5962	broad.mit.edu	37	11	110104137	110104138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:110104136_110104137A>AG	uc009yxy.3	-	12	1722_1723	c.1412_1413T>CT	c.(1411-1413)cctfs	p.P471fs	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Frame_Shift_Ins_p.P124fs|RDX_uc009yya.3_Intron|RDX_uc001pks.3_Frame_Shift_Ins_p.P5fs|RDX_uc001pkt.3_Frame_Shift_Ins_p.P125fs|RDX_uc001pku.3_Frame_Shift_Ins_p.P471fs|RDX_uc010rwe.2_Frame_Shift_Ins_p.P335fs	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	471	Glu-rich.|Poly-Pro.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431												
CCDC153	283152	broad.mit.edu	37	11	119061043	119061044	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr11:119061042_119061043A>AG	uc010rze.2	-	6	813_814	c.599_600T>CT	c.(598-600)cctfs	p.P200fs		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569												
GUCY2C	2984	broad.mit.edu	37	12	14796510	14796510	+	Splice_Site	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:14796509_14796509CT>C	uc001rcd.3	-	17	2067	c.1930_splice	c.e17+1	p.D644_splice		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	644	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ATTACAGACCCTTTTTTGGAG	0.388												
PLEKHA5	54477	broad.mit.edu	37	12	19427545	19427546	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:19427544_19427545C>CA	uc001reb.3	+	9	1030_1031	c.922_923C>CA	c.(922-924)caafs	p.Q308fs	PLEKHA5_uc010sie.2_Frame_Shift_Ins_p.Q314fs|PLEKHA5_uc001rea.3_Frame_Shift_Ins_p.Q308fs|PLEKHA5_uc009zin.3_Frame_Shift_Ins_p.Q66fs|PLEKHA5_uc010sig.2_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc010sih.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc021qvy.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_uc001rec.1_5'UTR	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	308							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)					CCAAAACAATCAAAAAAACAAG	0.327												
MLL2	8085	broad.mit.edu	37	12	49438221	49438222	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:49438220_49438221TTC>T	uc001rta.4	-	19	5048_5049	c.5048_5049GAA>A	c.(5047-5049)gaafs	p.E1683fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1683					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	p.F1682L(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTTTTTTGCTTTCCTCGGTCTC	0.594			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCNH3	23416	broad.mit.edu	37	12	49948320	49948320	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:49948319_49948319TG>T	uc001ruh.1	+	10	2378	c.2118_2118TG>T	c.(2116-2118)gctfs	p.A706fs	KCNH3_uc010smj.1_Frame_Shift_Del_p.A646fs	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	706					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCTGGGTGCTGGGGGAGGCT	0.657												
ITGA7	3679	broad.mit.edu	37	12	56092301	56092301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:56092300_56092300AC>A	uc001shh.3	-	6	1291	c.1071_1071GT>T	c.(1069-1071)ggtfs	p.G357fs	ITGA7_uc001shg.3_Frame_Shift_Del_p.G353fs|ITGA7_uc010sps.2_Frame_Shift_Del_p.G260fs|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Frame_Shift_Del_p.G240fs	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	397					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CATACACAGCACCCCCCAGCT	0.607												
PA2G4	5036	broad.mit.edu	37	12	56505302	56505303	+	Frame_Shift_Ins	INS	-	-	A	rs149549286	byFrequency	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:56505301_56505302G>GA	uc001sjm.3	+	11	1526_1527	c.1107_1108G>GA	c.(1105-1110)aagaaafs	p.K369fs		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	369	Interaction with RNA (By similarity).|Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CCCAGAAAAAGAAAAAAAAGAA	0.386												
IL23A	51561	broad.mit.edu	37	12	56732898	56732898	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:56732897_56732897TG>T	uc001sla.3	+	0	235	c.69_69TG>T	c.(67-69)cctfs	p.P23fs		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	Homo sapiens interleukin 23, alpha subunit p19 (IL23A), mRNA.	23					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|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|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						GAGCTGTGCCTGGGGGCAGCA	0.587												
MBD6	114785	broad.mit.edu	37	12	57919556	57919556	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:57919555_57919555AC>A	uc001soj.1	+	5	1028	c.804_804AC>A	c.(802-804)acafs	p.T268fs	MBD6_uc001sok.1_Frame_Shift_Del_p.T135fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	268	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ATGCCTTAACACCCCCTCCCC	0.642												
AVPR1A	552	broad.mit.edu	37	12	63541343	63541343	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:63541342_63541342TA>T	uc001sro.1	-	1	3028	c.1054_1054TA>A	c.(1054-1056)agtfs	p.S352fs		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	352					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGATGGCCACTAAAAAACATG	0.398												
TMBIM4	51643	broad.mit.edu	37	12	66547156	66547156	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:66547155_66547155TA>T	uc009zqr.3	-	2	388	c.312_312TA>A	c.(310-312)ttafs	p.L104fs	LLPH_uc010ssx.2_Non-coding_Transcript|TMBIM4_uc001stc.3_Frame_Shift_Del_p.L57fs|TMBIM4_uc001std.3_Frame_Shift_Del_p.L26fs|TMBIM4_uc001stf.3_Frame_Shift_Del_p.L57fs|TMBIM4_uc009zqs.3_Frame_Shift_Del_p.L57fs	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.	57						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ACTCAAAGTATAAAAAAACTG	0.318												
NR2C1	7181	broad.mit.edu	37	12	95442883	95442883	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:95442882_95442882CT>C	uc001tdm.4	-	8	1349	c.1093_1093AG>G	c.(1093-1095)gagfs	p.E365fs	NR2C1_uc010suu.1_Frame_Shift_Del_p.E365fs|NR2C1_uc001tdn.4_Frame_Shift_Del_p.E365fs|NR2C1_uc001tdo.4_Frame_Shift_Del_p.E365fs	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	365					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AGTGGCCCCTCTTTTTCGGTG	0.423												
FBXO21	23014	broad.mit.edu	37	12	117624320	117624320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:117624319_117624319CA>C	uc001twk.3	-	2	472	c.433_433TG>G	c.(433-435)gagfs	p.E145fs	FBXO21_uc001twj.3_Frame_Shift_Del_p.E145fs|FBXO21_uc009zwq.3_Frame_Shift_Del_p.E145fs	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	145					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.F144fs*9(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AGTTCATCCTCAAAAAAAATC	0.368												
PRKAB1	5564	broad.mit.edu	37	12	120110201	120110201	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr12:120110200_120110200CG>C	uc009zwu.3	+	2	357	c.254_254CG>C	c.(253-255)acgfs	p.T85fs	PRKAB1_uc001txg.3_Frame_Shift_Del_p.T85fs	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	85					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTTCGATGGACGGGGGGCGGA	0.517												
SACS	26278	broad.mit.edu	37	13	23915417	23915417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:23915416_23915416AT>A	uc001uon.2	-	9	3188	c.2599_2599AT>T	c.(2599-2601)tatfs	p.Y867fs	SACS_uc001uoo.2_Frame_Shift_Del_p.Y720fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	867					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATGAATATATTTTTTAATA	0.343												
SETDB2	83852	broad.mit.edu	37	13	50062719	50062719	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:50062718_50062718GT>G	uc001vcz.3	+	12	2811	c.1905_1905GT>G	c.(1903-1905)gtgfs	p.V635fs	SETDB2_uc010adh.2_3'UTR|SETDB2_uc001vda.3_Frame_Shift_Del_p.V623fs	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	635	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AAGGGAATGTGTTTTTATTGG	0.373												
DIAPH3	81624	broad.mit.edu	37	13	60582719	60582719	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:60582718_60582718CA>C	uc001vht.3	-	8	1193	c.974_974TG>G	c.(973-975)tgtfs	p.C325fs	DIAPH3_uc001vhu.3_Frame_Shift_Del_p.C62fs|DIAPH3_uc001vhw.1_Frame_Shift_Del_p.C314fs|DIAPH3_uc010aed.1_Frame_Shift_Del_p.C279fs|DIAPH3_uc010aee.1_Frame_Shift_Del_p.C255fs	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	325	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTCCACAATACAAAAAAATCT	0.308												
GAS6	2621	broad.mit.edu	37	13	114523858	114523858	+	Frame_Shift_Del	DEL	G	G	-	rs77565607		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr13:114523857_114523857CG>C	uc001vug.3	-	6	2172	c.1120_1120CG>G	c.(1120-1122)gtgfs	p.V374fs	GAS6_uc001vud.3_Frame_Shift_Del_p.V673fs|GAS6_uc001vuf.3_Frame_Shift_Del_p.V400fs	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	716	Laminin G-like 1.				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	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	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)				GCGGGCTCCACGGGGGGGCAG	0.706												
OR4M1	441670	broad.mit.edu	37	14	20248931	20248931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:20248930_20248930TG>T	uc010tku.2	+	0	449	c.449_449TG>T	c.(448-450)atgfs	p.M150fs		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCCTGGATGGGGGGCTTC	0.502												
MYH7	4625	broad.mit.edu	37	14	23894116	23894118	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:23894115_23894117CCTT>C	uc001wjx.3	-	21	2646_2648	c.2540_2542AAGG>G	c.(2539-2544)aaggag>aGag	p.847_848KE>R		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	847			Missing (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGGCCATCTCCTTCTCTCTTTC	0.552												
RNF31	55072	broad.mit.edu	37	14	24619940	24619941	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:24619939_24619940G>GC	uc001wmn.1	+	7	1579_1580	c.1330_1331G>GC	c.(1330-1332)gccfs	p.A444fs	RNF31_uc001wml.1_Frame_Shift_Ins_p.A293fs|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Frame_Shift_Ins_p.A259fs|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	444	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGCACAACATGCCCCCCGGCCC	0.594												
FOXG1	2290	broad.mit.edu	37	14	29237890	29237890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:29237889_29237889TG>T	uc001wqe.3	+	0	1603	c.1404_1404TG>T	c.(1402-1404)tctfs	p.S468fs		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	468					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CGGGACTGTCTGGGGGACTGT	0.532												
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Ins	INS	-	-	CT	rs117392855	by1000genomes	TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:45642287_45642288A>ACT	uc001wwd.4	+	12	2289_2290	c.2190_2191A>ACT	c.(2188-2193)caactcfs	p.Q730fs	FANCM_uc010anf.3_Frame_Shift_Ins_p.Q704fs|FANCM_uc001wwe.4_Frame_Shift_Ins_p.Q266fs|FANCM_uc010ang.3_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	730					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAATTCATCAACTCTCTCTCTC	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
FERMT2	10979	broad.mit.edu	37	14	53360082	53360082	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:53360081_53360081CT>C	uc001xac.3	-	3	642	c.456_456AG>G	c.(454-456)aagfs	p.K152fs	FERMT2_uc001xad.3_Frame_Shift_Del_p.K152fs|FERMT2_uc001xae.3_Frame_Shift_Del_p.K152fs|FERMT2_uc001xaf.3_Frame_Shift_Del_p.K152fs	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	152					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	p.K152K(2)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CTAGCTTCTTCTTTTTTTTCT	0.383												
C14orf149	112849	broad.mit.edu	37	14	59946072	59946072	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333												
GALNTL1	57452	broad.mit.edu	37	14	69800300	69800301	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:69800299_69800300T>TG	uc001xlb.2	+	8	1276_1277	c.949_950T>TG	c.(949-951)tggfs	p.W317fs	GALNTL1_uc001xla.2_Frame_Shift_Ins_p.W317fs|GALNTL1_uc010aqu.2_Frame_Shift_Ins_p.W317fs	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	317	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GATGGACATCTGGGGGGGAGAG	0.470												
EML5	161436	broad.mit.edu	37	14	89154769	89154769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:89154768_89154768AT>A	uc021ryf.1	-	17	2838	c.2589_2589AT>T	c.(2587-2589)aatfs	p.N863fs	EML5_uc021ryg.1_Frame_Shift_Del_p.N863fs|EML5_uc001xxh.1_Intron	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	863						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCATTGTGTCATTTTTCCCCA	0.393												
KCNK13	56659	broad.mit.edu	37	14	90651285	90651286	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:90651284_90651285A>AG	uc001xye.1	+	1	1606_1607	c.1164_1165A>AG	c.(1162-1167)tcagggfs	p.S388fs		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	388						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G389W(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATGAATTCTCAGGGGGGGTGGG	0.589												
COX8C	341947	broad.mit.edu	37	14	93814398	93814398	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:93814397_93814397GT>G	uc001ybt.1	+	1	228	c.150_150GT>G	c.(148-150)gtgfs	p.V50fs	UNC79_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIIC (COX8C), nuclear gene encoding mitochondrial protein, mRNA.	50						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		GACTTGTGGTGTTTTTTACGA	0.453												
PLD4	122618	broad.mit.edu	37	14	105397162	105397162	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr14:105397161_105397161TG>T	uc010tyl.1	+	6	979	c.821_821TG>T	c.(820-822)ctgfs	p.L274fs	PLD4_uc001ypu.1_Frame_Shift_Del_p.L267fs	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	267					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	TACTGGGTACTGGGGGTGCCC	0.577												
OR4M2	390538	broad.mit.edu	37	15	22369024	22369024	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:22369023_22369023AG>A	uc010tzu.2	+	0	546	c.448_448AG>A	c.(448-450)aggfs	p.R150fs	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		TCTCTCCTGGAGGGGGGGCTT	0.498												
RYR3	6263	broad.mit.edu	37	15	33872197	33872197	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:33872196_33872196GC>G	uc001zhi.3	+	12	1358	c.1288_1288GC>G	c.(1288-1290)gccfs	p.A430fs	RYR3_uc010bar.3_Frame_Shift_Del_p.A430fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	430					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A430A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGCACAGCTGCCCCCATCAC	0.547												
SLC12A6	9990	broad.mit.edu	37	15	34544457	34544458	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:34544456_34544457G>GA	uc001zhw.3	-	8	1411_1412	c.1247_1248C>TC	c.(1246-1248)ttcfs	p.F416fs	SLC12A6_uc001zhv.3_Frame_Shift_Ins_p.F365fs|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Frame_Shift_Ins_p.F401fs|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Frame_Shift_Ins_p.F357fs|SLC12A6_uc001zib.3_Frame_Shift_Ins_p.F407fs|SLC12A6_uc001zic.3_Frame_Shift_Ins_p.F416fs|SLC12A6_uc010bau.3_Frame_Shift_Ins_p.F416fs|SLC12A6_uc001zid.3_Frame_Shift_Ins_p.F357fs|SLC12A6_uc001zht.3_5'Flank|SLC12A6_uc001zhu.3_Frame_Shift_Ins_p.F228fs	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	416					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGGTGGCATTGAAAAATTGACT	0.396												
C15orf52	388115	broad.mit.edu	37	15	40631782	40631783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:40631781_40631782T>TC	uc001zlh.4	-	2	310_311	c.294_295A>GA	c.(292-297)gggatgfs	p.G98fs	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	98								p.M99fs*3(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		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)		GTCACAGCCATCCCCCCCTGCT	0.649												
ADAL	161823	broad.mit.edu	37	15	43641115	43641116	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:43641114_43641115C>CA	uc010udo.2	+	9	1136_1137	c.562_563C>CA	c.(562-564)caafs	p.Q188fs	ADAL_uc001zrh.3_Frame_Shift_Ins_p.Q215fs|ADAL_uc001zri.2_Frame_Shift_Ins_p.Q100fs	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	Homo sapiens adenosine deaminase-like (ADAL), transcript variant 1, mRNA.	215					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGAA	0.455												
B2M	567	broad.mit.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-	rs11553044		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:45003780_45003781ACT>A	uc001zuc.3	+	0	96_97	c.36_37ACT>A	c.(34-39)ctactcfs	p.L12fs	B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	12					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGCTCGCGCTACTCTCTCTTTC	0.614												
NARG2	79664	broad.mit.edu	37	15	60745939	60745940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:60745938_60745939T>TG	uc002agp.3	-	8	1223_1224	c.988_989A>CA	c.(988-990)caafs	p.Q330fs	NARG2_uc002ago.3_Frame_Shift_Ins_p.Q193fs|NARG2_uc002agq.4_5'UTR|NARG2_uc010bgk.3_Frame_Shift_Ins_p.Q330fs|NARG2_uc002agr.1_Frame_Shift_Ins_p.Q330fs	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	330						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CATTTTCTTTTGGGGAAGTGGT	0.297												
ITGA11	22801	broad.mit.edu	37	15	68617582	68617582	+	Splice_Site	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:68617581_68617581TG>T	uc010bib.3	-	18	2299	c.2212_splice	c.e18-1	p.D738_splice	ITGA11_uc002ari.3_Splice_Site_p.D738_splice	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	738					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGCAGTGTCCTGGGGGGTGGA	0.582												
KIAA1024	23251	broad.mit.edu	37	15	79749636	79749636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:79749635_79749635CT>C	uc002bew.1	+	1	1221	c.1146_1146CT>C	c.(1144-1146)tccfs	p.S382fs	KIAA1024_uc010unk.1_Frame_Shift_Del_p.S382fs	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	382						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TTGAACGGTCCTTTTTCAATA	0.527												
PDE8A	5151	broad.mit.edu	37	15	85669470	85669471	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:85669469_85669470CTA>C	uc002blh.3	+	19	2306_2307	c.2117_2118CTA>C	c.(2116-2118)actfs	p.T706fs	PDE8A_uc021stv.1_Frame_Shift_Del_p.T634fs|PDE8A_uc002bli.3_Frame_Shift_Del_p.T660fs|PDE8A_uc010bnc.3_Frame_Shift_Del_p.T459fs|PDE8A_uc010bnd.3_Frame_Shift_Del_p.T459fs|PDE8A_uc002blj.3_Frame_Shift_Del_p.T326fs|PDE8A_uc002blk.3_Frame_Shift_Del_p.T326fs|PDE8A_uc002bll.3_Frame_Shift_Del_p.T58fs	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	706	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.T706N(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GTGATAAACACTATGCTTAGGA	0.455												
SYNM	23336	broad.mit.edu	37	15	99673231	99673233	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr15:99673230_99673232TGAG>T	uc002bup.3	+	4	4782_4784	c.4662_4664TGAG>T	c.(4660-4665)aatgag>aaTg	p.E1558del	SYNM_uc002buo.3_In_Frame_Del_p.E1246del|SYNM_uc002buq.3_Non-coding_Transcript	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1559	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	p.N1554N(1)|p.N1242N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ATCTAGACAATGAGGAGGAGGAG	0.438												
PTX4	390667	broad.mit.edu	37	16	1536186	1536187	+	Frame_Shift_Ins	INS	-	-	G	rs148668779		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:1536185_1536186C>CG	uc010uvf.2	-	2	1176_1177	c.1176_1177G>CG	c.(1174-1179)cccggafs	p.P392fs		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	397	Pentaxin.					extracellular region	metal ion binding	p.G393fs*57(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGGGACCCTCCGGGGGGGATCT	0.663												
GLYR1	84656	broad.mit.edu	37	16	4864621	4864621	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:4864620_4864620CG>C	uc002cxx.4	-	10	972	c.935_935CG>G	c.(934-936)cgtfs	p.R312fs	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Del_p.R226fs|GLYR1_uc002cya.2_Frame_Shift_Del_p.R306fs|GLYR1_uc010uxv.1_Frame_Shift_Del_p.R231fs	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	312					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCTTCCCAGACGGGCCCCCTC	0.577												
SNX29	92017	broad.mit.edu	37	16	12492337	12492338	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:12492336_12492337CAG>C	uc002dby.4	+	16	1995_1996	c.778_779CAG>C	c.(778-780)cagfs	p.Q260fs		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	260					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GTCCGAAGACCAGAGTTTGTCG	0.475												
PALB2	79728	broad.mit.edu	37	16	23632770	23632770	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:23632769_23632769AG>A	uc002dlx.1	-	9	3227	c.3027_3027CT>T	c.(3025-3027)cctfs	p.P1009fs		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	1009	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.P1008L(1)|p.E1010fs*1(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAGTCTCCTCAGGGGGCATCA	0.408			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks				
ERN2	10595	broad.mit.edu	37	16	23718096	23718097	+	Frame_Shift_Ins	INS	-	-	G	rs143761786		TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:23718095_23718096C>CG	uc002dma.4	-	5	779_780	c.610_611G>CG	c.(610-612)cgcfs	p.R204fs	ERN2_uc010bxp.3_Frame_Shift_Ins_p.R204fs|ERN2_uc010bxq.1_Frame_Shift_Ins_p.R12fs	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	156					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGAG	0.604												
GTF3C1	2975	broad.mit.edu	37	16	27509009	27509009	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:27509008_27509008CT>C	uc002dov.2	-	13	2340	c.2300_2300AG>G	c.(2299-2301)agtfs	p.S767fs	GTF3C1_uc002dou.3_Frame_Shift_Del_p.S767fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	767						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTATTATCACTTTTTTTCAT	0.433												
KIF22	3835	broad.mit.edu	37	16	29814177	29814177	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:29814176_29814176AG>A	uc002dts.3	+	8	1390	c.1367_1367AG>A	c.(1366-1368)cagfs	p.Q456fs	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Frame_Shift_Del_p.Q388fs|KIF22_uc010vdw.1_Frame_Shift_Del_p.Q388fs|KIF22_uc002frc.1_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	456				APASASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQ -> SSSLCLPETQPPTEAKAAWTRPCGAPPQLGPSACLPGE P (in Ref. 2; BAA33063).	DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CAGGGGAGCCAGGGGGCCCCT	0.577												
ZNF423	23090	broad.mit.edu	37	16	49671937	49671937	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:49671936_49671936GC>G	uc002efs.3	-	4	1425	c.1127_1127GC>C	c.(1126-1128)gccfs	p.A376fs	ZNF423_uc010vgn.2_Frame_Shift_Del_p.A259fs	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	376					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTCCACAGAGGCGCTGGAGTC	0.667												
ZDHHC7	55625	broad.mit.edu	37	16	85010039	85010039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:85010038_85010038AG>A	uc010voi.1	-	8	1302	c.949_949CT>T	c.(949-951)tcafs	p.S317fs	ZDHHC7_uc002fiq.2_Frame_Shift_Del_p.S280fs|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	280						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CAGAGGAGTGAGGGGGGCCCC	0.582												
ZC3H18	124245	broad.mit.edu	37	16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr16:88694458_88694458AC>A	uc010voz.2	+	15	2672	c.2472_2472AC>A	c.(2470-2472)gcafs	p.A824fs	ZC3H18_uc002fky.3_Frame_Shift_Del_p.A800fs|ZC3H18_uc010chw.3_Intron|ZC3H18_uc002fkz.3_Frame_Shift_Del_p.A70fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	800						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCAGCAGGCACCCCCCGGGC	0.607												
CAMTA2	23125	broad.mit.edu	37	17	4884998	4885000	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:4884997_4884999ACTC>A	uc010cku.2	-	6	1020_1022	c.608_610GAGT>T	c.(607-612)gagttg>gTtg	p.203_204EL>V	CAMTA2_uc002gag.2_In_Frame_Del_p.179_180EL>V|CAMTA2_uc002gah.2_In_Frame_Del_p.180_181EL>V|CAMTA2_uc002gai.2_In_Frame_Del_p.182_183EL>V|CAMTA2_uc010ckv.1_5'Flank|CAMTA2_uc010vsu.2_5'UTR	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	180					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTCCCAACAACTCCTCCCGGGA	0.601												
ULK2	9706	broad.mit.edu	37	17	19729453	19729453	+	Splice_Site	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:19729452_19729452AT>A	uc002gwm.4	-	11	1344	c.835_splice	c.e11+1	p.S279_splice	ULK2_uc002gwn.3_Splice_Site_p.S279_splice	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	279					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGATACTCACATTTTTTTACT	0.294												
ULK2	9706	broad.mit.edu	37	17	19744820	19744821	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:19744819_19744820G>GT	uc002gwm.4	-	8	1195_1196	c.686_687C>AC	c.(685-687)aacfs	p.N229fs	ULK2_uc002gwn.3_Frame_Shift_Ins_p.N229fs	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	229	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TTAAGCTCCTGTTTTTTTCATA	0.307												
LHX1	3975	broad.mit.edu	37	17	35300395	35300396	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:35300394_35300395A>AC	uc002hnh.2	+	4	1910_1911	c.1187_1188A>AC	c.(1186-1188)cacfs	p.H396fs		NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	396					S-shaped body morphogenesis|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|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	p.E399fs*>9(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CACCTGTCCCACCCCCCCGAAA	0.599												
PCGF2	7703	broad.mit.edu	37	17	36896587	36896587	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:36896586_36896586AC>A	uc002hqp.1	-	2	316	c.70_70GT>T	c.(70-72)tacfs	p.Y24fs		NM_007144	NP_009075	P35227	PCGF2_HUMAN	Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.	24					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCGATGAAGTACCCCCCGCAG	0.632												
CACNB1	782	broad.mit.edu	37	17	37341120	37341121	+	Splice_Site	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:37341119_37341120T>TG	uc002hrm.2	-	8	857	c.649_splice	c.e8-1	p.T217_splice	CACNB1_uc002hrl.1_Splice_Site|CACNB1_uc002hrn.3_Splice_Site_p.T217_splice|CACNB1_uc002hro.3_Splice_Site_p.T262_splice|CACNB1_uc002hrp.2_Intron	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	217				T -> S (in Ref. 3; AAA36167).	axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATGCTCTGTCTGGGGGGGGAAG	0.629												
SLC25A39	51629	broad.mit.edu	37	17	42397453	42397453	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:42397452_42397452AG>A	uc002ign.2	-	11	1151	c.997_997CT>T	c.(997-999)tccfs	p.S333fs	SLC25A39_uc002igm.2_Frame_Shift_Del_p.S325fs|SLC25A39_uc010wiw.1_Frame_Shift_Del_p.S310fs	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	333					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATGGCACAGGAGGGGGCAGCC	0.622												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
APPBP2	10513	broad.mit.edu	37	17	58541474	58541474	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:58541473_58541473TA>T	uc002iys.1	-	6	961	c.673_splice	c.e6-1	p.A225_splice	APPBP2_uc010ddl.1_Splice_Site_p.A154_splice	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	225					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTTGTATGCCTAAAAAAATTA	0.323												
TBX4	9496	broad.mit.edu	37	17	59560345	59560345	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:59560344_59560344TC>T	uc010ddo.3	+	8	1271	c.1108_1108TC>T	c.(1108-1110)tccfs	p.S370fs	TBX4_uc002izi.3_Frame_Shift_Del_p.S369fs|TBX4_uc010woy.2_Frame_Shift_Del_p.S370fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	369					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTATTTCCGTTCCCCCCCTCC	0.572												
STRADA	92335	broad.mit.edu	37	17	61781058	61781058	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:61781057_61781057TG>T	uc002jbm.3	-	12	1472	c.1198_1198CA>A	c.(1198-1200)atcfs	p.I400fs	STRADA_uc002jbn.3_Frame_Shift_Del_p.I342fs|STRADA_uc010wpq.2_3'UTR|STRADA_uc010wpr.2_3'UTR|STRADA_uc002jbo.3_Frame_Shift_Del_p.I363fs|STRADA_uc002jbp.3_3'UTR|STRADA_uc010ddw.3_Frame_Shift_Del_p.I371fs|STRADA_uc002jbr.3_3'UTR	NM_001003787	NP_001003788	Q7RTN6	STRAA_HUMAN	Homo sapiens STE20-related kinase adaptor alpha (STRADA), transcript variant 1, mRNA.	400					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						AAATTGGTGATGGGGGTGACA	0.557												
TEX2	55852	broad.mit.edu	37	17	62265578	62265579	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:62265577_62265578T>TG	uc002jed.3	-	4	2546_2547	c.2395_2396A>CA	c.(2395-2397)cagfs	p.Q799fs	TEX2_uc002jec.3_Frame_Shift_Ins_p.Q792fs|TEX2_uc002jee.3_Frame_Shift_Ins_p.Q792fs	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	792					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGGCTCCTCTGGGGGCTTCGG	0.599												
KIF19	124602	broad.mit.edu	37	17	72338838	72338839	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:72338837_72338838CTT>C	uc002jkm.4	+	3	438_439	c.300_301CTT>C	c.(298-303)gtctttfs	p.V100fs	KIF19_uc002jkj.2_Frame_Shift_Del_p.V100fs|KIF19_uc002jkk.2_Frame_Shift_Del_p.V100fs|KIF19_uc002jkl.2_Frame_Shift_Del_p.V100fs	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	100	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGCCACTGTCTTTGCCTATGG	0.604												
CASKIN2	57513	broad.mit.edu	37	17	73498973	73498974	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:73498972_73498973T>TG	uc002joc.3	-	17	2732_2733	c.2182_2183A>CA	c.(2182-2184)cagfs	p.Q728fs	CASKIN2_uc010wsc.2_Frame_Shift_Ins_p.Q646fs	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	728	Pro-rich.					cytoplasm		p.Q728fs*74(2)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTTCCTCTCCTGGGGGGGGCTG	0.649												
UBE2O	63893	broad.mit.edu	37	17	74388089	74388090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:74388088_74388089T>TG	uc002jrm.4	-	15	3117_3118	c.3052_3053A>CA	c.(3052-3054)cacfs	p.H1018fs	UBE2O_uc002jrl.4_Frame_Shift_Ins_p.H622fs	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	1018							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GTAGCAGAAGTGGGGGGGCACG	0.584												
NOTUM	147111	broad.mit.edu	37	17	79911029	79911029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr17:79911028_79911028CG>C	uc010wvg.2	-	10	1572	c.1300_1300CG>G	c.(1300-1302)gtcfs	p.V434fs		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	434						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACCAGGTGGACGGGGCAGCCC	0.667												
MYOM1	8736	broad.mit.edu	37	18	3151848	3151849	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:3151847_3151848GGT>G	uc002klp.3	-	11	2021_2022	c.1687_1688ACC>C	c.(1687-1689)cctfs	p.P563fs	MYOM1_uc002klq.3_Frame_Shift_Del_p.P563fs	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	563	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAACTTCACAGGTGTGTCATTG	0.421											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ASXL3	80816	broad.mit.edu	37	18	31319986	31319986	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr18:31319985_31319985GA>G	uc010dmg.1	+	10	2672	c.2617_2617GA>G	c.(2617-2619)gaafs	p.E873fs	ASXL3_uc002kxq.2_Frame_Shift_Del_p.E580fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAAGAACAGAAAAAAAAGT	0.378												
MAP2K7	5609	broad.mit.edu	37	19	7976149	7976149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:7976148_7976148AC>A	uc002mit.3	+	7	934	c.869_869AC>A	c.(868-870)gacfs	p.D290fs	MAP2K7_uc002miv.2_Frame_Shift_Del_p.D290fs|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Frame_Shift_Del_p.D165fs|MAP2K7_uc010xkb.2_Frame_Shift_Del_p.D290fs	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	290	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D290D(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GAGCGCATTGACCCCCCAGAC	0.701												
MAST3	23031	broad.mit.edu	37	19	18255932	18255933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:18255931_18255932G>GC	uc002nhz.4	+	22	2844_2845	c.2844_2845G>GC	c.(2842-2847)cggcccfs	p.R948fs		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	948							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S949S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCAGCCTGCGGCCCCCCATCGT	0.649												
ZNF253	56242	broad.mit.edu	37	19	20002392	20002392	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:20002391_20002391TA>T	uc002noj.3	+	3	427	c.335_335TA>T	c.(334-336)ttafs	p.L112fs	ZNF253_uc002nok.3_Frame_Shift_Del_p.L36fs|ZNF253_uc002nol.3_Non-coding_Transcript	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	112					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTTACAGTTAAAAAAAGGC	0.373												
ZNF486	90649	broad.mit.edu	37	19	20307886	20307886	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:20307885_20307885TA>T	uc002nou.2	+	3	423	c.366_366TA>T	c.(364-366)tttfs	p.F122fs		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATTTACACTTTAAAAAAGGCT	0.348												
C19orf12	83636	broad.mit.edu	37	19	30193868	30193868	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:30193867_30193867GC>G	uc002nsj.3	-	2	338	c.211_211GC>C	c.(211-213)ctgfs	p.L71fs	C19orf12_uc002nsk.3_Frame_Shift_Del_p.L60fs|C19orf12_uc002nsl.3_3'UTR|C19orf12_uc002nsm.3_Non-coding_Transcript	NM_001031726	NP_113636	Q9NSK7	CS012_HUMAN	Homo sapiens chromosome 19 open reading frame 12 (C19orf12), transcript variant 1, mRNA.	60						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GCACCTAACAGCCCCCCGACA	0.532												
KIAA0355	9710	broad.mit.edu	37	19	34838876	34838876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:34838875_34838875AC>A	uc002nvd.4	+	10	3474	c.2615_2615AC>A	c.(2614-2616)aacfs	p.N872fs		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	872										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGGCCAGGCAACCCCCGGGGC	0.637												
ZNF180	7733	broad.mit.edu	37	19	44982338	44982338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:44982337_44982337CT>C	uc002ozf.4	-	4	643	c.361_361AG>G	c.(361-363)gatfs	p.D121fs	ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Frame_Shift_Del_p.D94fs|ZNF180_uc002ozg.4_Frame_Shift_Del_p.D120fs|ZNF180_uc010ejm.3_Frame_Shift_Del_p.D96fs	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	121	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GAAGTTGAATCTTTTTTTCCA	0.338												
HIF3A	64344	broad.mit.edu	37	19	46811551	46811551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:46811550_46811550AC>A	uc002peh.3	+	3	467	c.436_436AC>A	c.(436-438)accfs	p.T146fs	HIF3A_uc002pef.2_Frame_Shift_Del_p.T146fs|HIF3A_uc002peg.4_Frame_Shift_Del_p.T146fs|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Frame_Shift_Del_p.T90fs|HIF3A_uc002pej.2_Frame_Shift_Del_p.T77fs|HIF3A_uc010xxy.2_Frame_Shift_Del_p.T77fs|HIF3A_uc002pel.3_Frame_Shift_Del_p.T144fs|HIF3A_uc010xxz.2_Frame_Shift_Del_p.T95fs	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	146	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGACGCCCTGACCCCCCAGCA	0.607												
TEAD2	8463	broad.mit.edu	37	19	49850473	49850474	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:49850472_49850473T>TG	uc002pnh.3	-	9	1001_1002	c.895_896A>CA	c.(895-897)catfs	p.H299fs	TEAD2_uc002png.3_Frame_Shift_Ins_p.H298fs|TEAD2_uc002pni.3_Frame_Shift_Ins_p.H298fs|TEAD2_uc002pnj.3_Frame_Shift_Ins_p.H295fs|TEAD2_uc010yao.2_Frame_Shift_Ins_p.H167fs|TEAD2_uc010emw.3_Frame_Shift_Ins_p.H298fs	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	295	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.H295fs*12(1)|p.L299P(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564												
SLC17A7	57030	broad.mit.edu	37	19	49937128	49937129	+	Splice_Site	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:49937127_49937128T>TG	uc002pnp.3	-	7	897	c.725_splice	c.e7-1	p.G242_splice	SLC17A7_uc002pnq.1_Intron|SLC17A7_uc002pno.3_Splice_Site	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	242					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGAAGCTGCCTGGGGGGGTCAG	0.678												
SPIB	6689	broad.mit.edu	37	19	50926122	50926122	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:50926121_50926121AC>A	uc002psd.3	+	3	191	c.166_166AC>A	c.(166-168)accfs	p.T56fs	SPIB_uc021uyc.1_Frame_Shift_Del_p.P36fs|SPIB_uc002pse.3_Frame_Shift_Del_p.T56fs|SPIB_uc010ycc.2_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	56	TAD2.				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TGTCCCAGCCACCCCCTATGA	0.657												
ZNF83	55769	broad.mit.edu	37	19	53117419	53117419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:53117418_53117418AT>A	uc002pzu.4	-	1	1644	c.400_400AT>T	c.(400-402)tcafs	p.S134fs	ZNF83_uc002pzv.4_Frame_Shift_Del_p.S134fs|ZNF83_uc010eps.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010ept.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010epu.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010epw.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010epv.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010epx.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010epy.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010epz.3_Frame_Shift_Del_p.S134fs|ZNF83_uc010eqb.2_Frame_Shift_Del_p.S134fs|ZNF83_uc021uyx.1_Frame_Shift_Del_p.S134fs	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	134						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GCAAGGTTTGATTTTTTATTG	0.343												
ZNF549	256051	broad.mit.edu	37	19	58049657	58049657	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:58049656_58049656CA>C	uc002qpb.2	+	3	1533	c.1284_1284CA>C	c.(1282-1284)cacfs	p.H428fs	ZNF549_uc002qpa.2_Frame_Shift_Del_p.H415fs	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTTCATTCACAAAAAAAGAC	0.418												
ZNF530	348327	broad.mit.edu	37	19	58115649	58115649	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr19:58115648_58115648GT>G	uc002qpk.2	+	1	254	c.34_34GT>G	c.(34-36)gttfs	p.V12fs	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_5'Flank	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCATAGCAGGTTTTTGTAGC	0.532												
PAK7	57144	broad.mit.edu	37	20	9561247	9561247	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:9561246_9561246TC>T	uc002wnl.2	-	4	1081	c.536_536GA>A	c.(535-537)gagfs	p.E179fs	PAK7_uc002wnk.2_Frame_Shift_Del_p.E179fs|PAK7_uc002wnj.2_Frame_Shift_Del_p.E179fs|PAK7_uc010gby.1_Frame_Shift_Del_p.E179fs	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	179	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATAGTAGGCCTCCCCGTGCTT	0.458												
PYGB	5834	broad.mit.edu	37	20	25262728	25262728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:25262727_25262727AC>A	uc002wup.3	+	11	1571	c.1462_1462AC>A	c.(1462-1464)accfs	p.T488fs		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	488					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CAATGGCATCACCCCCCGCCG	0.582												
CEP250	11190	broad.mit.edu	37	20	34078524	34078525	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:34078523_34078524G>GA	uc021wco.1	+	20	3294_3295	c.2647_2648G>GA	c.(2647-2649)gaafs	p.E883fs	CEP250_uc010zve.2_Frame_Shift_Ins_p.E251fs	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	883	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTAGAAAGGGAAAAAATGGAG	0.545												
SYCP2	10388	broad.mit.edu	37	20	58494655	58494655	+	Splice_Site	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:58494654_58494654TA>T	uc002yaz.3	-	5	437	c.298_splice	c.e5-1	p.M100_splice	SYCP2_uc010gju.1_Splice_Site_p.M1_splice	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	100					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)			GGCAACCATGTAAAAAAAGGA	0.294												
PRPF6	24148	broad.mit.edu	37	20	62654186	62654187	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr20:62654185_62654186AGT>A	uc002yho.3	+	12	1891_1892	c.1723_1724AGT>A	c.(1723-1725)agtfs	p.S575fs	PRPF6_uc002yhp.3_Frame_Shift_Del_p.S575fs	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	575					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CAGCAAGAAGAGTGTGTGGCTG	0.574												
TTC3	7267	broad.mit.edu	37	21	38512963	38512964	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:38512962_38512963G>GA	uc002yvz.3	+	19	1866_1867	c.1761_1762G>GA	c.(1759-1764)ttgaaafs	p.L587fs	TTC3_uc011aee.1_Frame_Shift_Ins_p.L277fs|TTC3_uc002ywa.3_Frame_Shift_Ins_p.L587fs|TTC3_uc002ywb.3_Frame_Shift_Ins_p.L587fs|TTC3_uc010gnf.3_Frame_Shift_Ins_p.L352fs|TTC3_uc002ywc.3_Frame_Shift_Ins_p.L277fs|TTC3_uc011aed.1_Frame_Shift_Ins_p.L277fs|TTC3_uc010gne.1_Frame_Shift_Ins_p.L587fs	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	587					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGTATATTTGAAAAAAAACAG	0.347												
ERG	2078	broad.mit.edu	37	21	39755554	39755554	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:39755553_39755553CG>C	uc010gnw.3	-	11	1528	c.1233_1233CG>G	c.(1231-1233)ccgfs	p.P411fs	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Frame_Shift_Del_p.P404fs|ERG_uc011aek.2_Frame_Shift_Del_p.P312fs|ERG_uc010gnv.3_Frame_Shift_Del_p.P288fs|ERG_uc010gnx.3_Frame_Shift_Del_p.P387fs|ERG_uc011ael.2_Frame_Shift_Del_p.P411fs|ERG_uc002yxb.3_Frame_Shift_Del_p.P387fs	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	411					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GAGATGACTCCGGGGGGTGGG	0.592			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""							
KRTAP10-9	386676	broad.mit.edu	37	21	46047366	46047366	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr21:46047365_46047365TC>T	uc002zfp.4	+	0	326	c.277_277TC>T	c.(277-279)tccfs	p.S93fs	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	93	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CTGCACCTCCTCCCcctgcca	0.662												
EIF4ENIF1	56478	broad.mit.edu	37	22	31884676	31884677	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chr22:31884675_31884676TTC>T	uc003akz.2	-	1	227_228	c.29_30GAA>A	c.(28-30)gaafs	p.E10fs	EIF4ENIF1_uc003ala.2_Frame_Shift_Del_p.E10fs|EIF4ENIF1_uc003alb.2_Frame_Shift_Del_p.E10fs|EIF4ENIF1_uc003alc.1_Frame_Shift_Del_p.E10fs	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	10						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATCTCCACTTTCTGTTTCACC	0.441												
RPGR	6103	broad.mit.edu	37	X	38144935	38144935	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:38144934_38144934CT>C	uc004ded.1	-	14	3486	c.3318_3318AG>G	c.(3316-3318)aagfs	p.K1106fs	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	888					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TAGTAACTGACTTTTTTTGAT	0.388												
KDM5C	8242	broad.mit.edu	37	X	53222309	53222310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:53222308_53222309A>AG	uc004drz.3	-	25	5056_5057	c.4523_4524T>CT	c.(4522-4524)cctfs	p.P1508fs	KDM5C_uc022bxe.1_Intron|KDM5C_uc004dsa.3_Frame_Shift_Ins_p.P1507fs|AY927613_uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1508					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			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGATGGGTGCAGGGGGGCCCTC	0.658			"""N, F, S"""		clear cell renal carcinoma							
KLF8	11279	broad.mit.edu	37	X	56291859	56291860	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:56291858_56291859T>TC	uc004dur.3	+	2	1273_1274	c.327_328T>TC	c.(325-330)cgtcccfs	p.R109fs	KLF8_uc010nkg.2_Frame_Shift_Ins_p.R104fs|KLF8_uc011mop.2_Frame_Shift_Ins_p.R109fs|KLF8_uc010nkh.3_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CTCCAATACGTCCCCCCAAGCC	0.545												
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:135314193_135314193TG>T	uc004ezt.3	-	7	1144	c.923_923CA>A	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537												
MAGEC3	139081	broad.mit.edu	37	X	140953263	140953263	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8591-01A-11D-2394-08	TCGA-BR-8591-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d807764-06c1-4711-b3ba-939e11723d45	bd35fe5b-c91a-4e25-b964-9c173673af02	g.chrX:140953262_140953262GA>G	uc011mwp.2	+	1	129	c.129_129GA>G	c.(127-129)cggfs	p.R43fs		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	43										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGCCCCGGAAAAAGGCCA	0.488