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
FBLIM1	54751	broad.mit.edu	37	1	16097029	16097029	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:16097029T>A	uc001axd.1	+	7	1110	c.667T>A	c.(667-669)TTC>ATC	p.F223I	FBLIM1_uc001axe.1_Missense_Mutation_p.F223I|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.F223I|FBLIM1_uc001axh.1_Missense_Mutation_p.F126I|FBLIM1_uc001axi.1_Missense_Mutation_p.F126I	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	223	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TGGGCAGAGCTTCTACCAGAA	0.537												
SLC6A9	6536	broad.mit.edu	37	1	44476517	44476517	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:44476517T>C	uc001cll.2	-	3	479	c.287A>G	c.(286-288)CAG>CGG	p.Q96R	SLC6A9_uc009vxe.2_5'UTR|SLC6A9_uc010okm.1_Missense_Mutation_p.Q23R|SLC6A9_uc001clm.2_Missense_Mutation_p.Q42R|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.Q42R|SLC6A9_uc001cln.2_Missense_Mutation_p.Q23R|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	96	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TTTGAGGTTCTGGTCCCTCTT	0.597												
CD101	9398	broad.mit.edu	37	1	117564313	117564313	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:117564313T>G	uc010oxb.1	+	7	2194	c.2136T>G	c.(2134-2136)ATT>ATG	p.I712M	CD101_uc009whd.2_Missense_Mutation_p.I712M|CD101_uc010oxc.1_Missense_Mutation_p.I712M|CD101_uc010oxd.1_Missense_Mutation_p.I650M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	712	Ig-like C2-type 6.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TAGCCATTATTTGGTATTTTT	0.428												
TTF2	8458	broad.mit.edu	37	1	117641498	117641498	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:117641498G>A	uc001egy.2	+	22	3333	c.3313G>A	c.(3313-3315)GTA>ATA	p.V1105I		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	1105	Helicase C-terminal.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AATTTACCGAGTAGGGCAGCA	0.403												
ADAR	103	broad.mit.edu	37	1	154574725	154574725	+	Silent	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:154574725C>T	uc001ffh.2	-	2	593	c.393G>A	c.(391-393)CAG>CAA	p.Q131Q	ADAR_uc001ffj.2_Silent_p.Q131Q|ADAR_uc001ffi.2_Silent_p.Q131Q|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Intron|ADAR_uc001ffn.1_Intron	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	131					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TACTCAGTTCCTGGAAATGTG	0.512												
NES	10763	broad.mit.edu	37	1	156640925	156640925	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:156640925G>A	uc001fpq.2	-	4	3188	c.3055C>T	c.(3055-3057)CCC>TCC	p.P1019S		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1019	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCTCTTTGGGCTCAGGGCTC	0.642												
FCRLA	84824	broad.mit.edu	37	1	161681106	161681106	+	Missense_Mutation	SNP	G	G	A	rs145034072		TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:161681106G>A	uc001gbe.2	+	4	652	c.410G>A	c.(409-411)CGA>CAA	p.R137Q	FCRLA_uc001gbd.2_Missense_Mutation_p.R131Q|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	114	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACCTTCTACCGAGATGGCTCA	0.592												
CACNA1E	777	broad.mit.edu	37	1	181724521	181724521	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:181724521A>G	uc001gow.2	+	28	4142	c.3977A>G	c.(3976-3978)GAG>GGG	p.E1326G	CACNA1E_uc009wxs.2_Missense_Mutation_p.E1214G|CACNA1E_uc001gox.1_Missense_Mutation_p.E552G|CACNA1E_uc009wxt.2_Missense_Mutation_p.E552G	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1326	Extracellular (Potential).|III.				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						AAGGACACAGAGAAGGAGTGC	0.488												
HMCN1	83872	broad.mit.edu	37	1	186057323	186057323	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:186057323G>A	uc001grq.1	+	62	9721	c.9492G>A	c.(9490-9492)ACG>ACA	p.T3164T		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3164	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TTGTGGAGACGATCAGCAATC	0.398												
EPRS	2058	broad.mit.edu	37	1	220206907	220206907	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:220206907T>C	uc001hly.1	-	4	595	c.325A>G	c.(325-327)AGA>GGA	p.R109G	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.R109G|EPRS_uc009xdt.1_5'UTR	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	109					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AAGTATGTTCTCAGAGACAGG	0.348												
TARBP1	6894	broad.mit.edu	37	1	234564922	234564922	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:234564922G>A	uc001hwd.2	-	17	3020	c.3020C>T	c.(3019-3021)GCT>GTT	p.A1007V		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1007					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GATTTTGGCAGCAATGGTAAG	0.333												
OR2AK2	391191	broad.mit.edu	37	1	248128933	248128933	+	Silent	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:248128933C>T	uc010pzd.1	+	1	300	c.300C>T	c.(298-300)TTC>TTT	p.F100F	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAGTCAGCTTCCTCTCACAGA	0.478												
RET	5979	broad.mit.edu	37	10	43622117	43622117	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr10:43622117A>G	uc001jal.2	+	19	3324	c.3134A>G	c.(3133-3135)AAT>AGT	p.N1045S	RET_uc001jak.1_Missense_Mutation_p.N1045S|RET_uc010qez.1_Missense_Mutation_p.N791S	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	1045	Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	GACTGTAATAATGCCCCCCTC	0.522		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma			
UNC5B	219699	broad.mit.edu	37	10	73053609	73053609	+	Silent	SNP	C	C	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr10:73053609C>G	uc001jro.2	+	13	2539	c.2094C>G	c.(2092-2094)GCC>GCG	p.A698A	UNC5B_uc001jrp.2_Silent_p.A687A	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	698	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						TCCAGCTGGCCGTCTTCGCCC	0.657												
ZNF195	7748	broad.mit.edu	37	11	3381526	3381526	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:3381526T>A	uc001lxt.2	-	6	890	c.712A>T	c.(712-714)AAT>TAT	p.N238Y	uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.N215Y|ZNF195_uc001lxs.2_Missense_Mutation_p.N166Y|ZNF195_uc010qxr.1_Missense_Mutation_p.N219Y|ZNF195_uc009ydz.2_Missense_Mutation_p.N193Y|ZNF195_uc001lxu.2_Missense_Mutation_p.N170Y	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	238	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCTCCAGTATTACTTATATTA	0.284												
CNGA4	1262	broad.mit.edu	37	11	6265554	6265554	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:6265554C>G	uc001mco.2	+	6	1750	c.1643C>G	c.(1642-1644)GCT>GGT	p.A548G	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	548	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCTGAGGCTGATGACGAG	0.617												
PLEKHA7	144100	broad.mit.edu	37	11	16812631	16812631	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:16812631C>T	uc001mmo.2	-	20	2876	c.2861G>A	c.(2860-2862)CGG>CAG	p.R954Q	PLEKHA7_uc010rcu.1_Missense_Mutation_p.R955Q|PLEKHA7_uc001mmm.2_Missense_Mutation_p.R57Q|PLEKHA7_uc010rcv.1_Missense_Mutation_p.R529Q|PLEKHA7_uc001mmn.2_Missense_Mutation_p.R663Q	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	954					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						CTTGAGGCCCCGCACAGATGT	0.682												
ANO3	63982	broad.mit.edu	37	11	26677708	26677708	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:26677708C>A	uc001mqt.3	+	25	2758	c.2613C>A	c.(2611-2613)TTC>TTA	p.F871L	ANO3_uc010rdr.1_Missense_Mutation_p.F855L|ANO3_uc010rds.1_Missense_Mutation_p.F710L|ANO3_uc010rdt.1_Missense_Mutation_p.F725L	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	871	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCCTATCCTTCTTTGACCTGA	0.373												
OR4B1	119765	broad.mit.edu	37	11	48238439	48238439	+	Silent	SNP	T	T	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:48238439T>C	uc010rhs.1	+	1	78	c.78T>C	c.(76-78)TTT>TTC	p.F26F		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	26	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						GTGTATGCTTTGTGGTGTTTC	0.498												
OR4A16	81327	broad.mit.edu	37	11	55110764	55110764	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:55110764T>G	uc010rie.1	+	1	88	c.88T>G	c.(88-90)TTA>GTA	p.L30V		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						TGTCATGTTTTTACTCATATA	0.423												
OR10AG1	282770	broad.mit.edu	37	11	55735801	55735801	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:55735801G>T	uc010rit.1	-	1	139	c.139C>A	c.(139-141)CAG>AAG	p.Q47K		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	47	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					ATGGGAGTCTGGAGAGCGGGG	0.343												
MED19	219541	broad.mit.edu	37	11	57472643	57472643	+	Silent	SNP	G	G	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:57472643G>C	uc001nla.1	-	2	298	c.276C>G	c.(274-276)GCC>GCG	p.A92A	MED19_uc001nlb.2_Silent_p.A92A	NM_153450	NP_703151	A0JLT2	MED19_HUMAN	mediator complex subunit 19	92					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(2)	2						ATTTATTATAGGCTTGTTCCA	0.433												
SIK2	23235	broad.mit.edu	37	11	111572256	111572256	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:111572256G>A	uc001plt.2	+	6	802	c.684G>A	c.(682-684)AGG>AGA	p.R228R		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	228	Protein kinase.				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						TGAGGCAGAGGGTTCTGGAAG	0.418												
CMAS	55907	broad.mit.edu	37	12	22208520	22208520	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:22208520C>T	uc001rfm.2	+	3	614	c.535C>T	c.(535-537)CGA>TGA	p.R179*	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	179					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3						CCATCAGTTTCGATGGAGTGA	0.328												
ITPR2	3709	broad.mit.edu	37	12	26868707	26868707	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:26868707T>C	uc001rhg.2	-	7	1103	c.686A>G	c.(685-687)TAT>TGT	p.Y229C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	229	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					ATCCTCTCGATAGGAACTATA	0.353												
KRT76	51350	broad.mit.edu	37	12	53170704	53170704	+	Silent	SNP	T	T	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:53170704T>C	uc001sax.2	-	1	426	c.372A>G	c.(370-372)GGA>GGG	p.G124G		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	124	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						agccaccagctccaccaaagc	0.114												
KRT76	51350	broad.mit.edu	37	12	53170707	53170707	+	Silent	SNP	A	A	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:53170707A>T	uc001sax.2	-	1	423	c.369T>A	c.(367-369)GGT>GGA	p.G123G		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	123	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						caccagctccaccaaagccac	0.109												
ORMDL2	29095	broad.mit.edu	37	12	56214131	56214131	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:56214131G>C	uc001shw.1	+	4	506	c.414G>C	c.(412-414)AAG>AAC	p.K138N	SARNP_uc009zoa.2_5'Flank|SARNP_uc001shs.3_5'Flank|SARNP_uc001sht.2_5'Flank|DNAJC14_uc001shu.1_Intron|SARNP_uc001shv.3_5'Flank	NM_014182	NP_054901	Q53FV1	ORML2_HUMAN	ORMDL2	138					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0						TGCTGCCGAAGTTGCCCCAGT	0.517												
SYCP3	50511	broad.mit.edu	37	12	102122964	102122964	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:102122964C>T	uc001tiq.2	-	8	712	c.580G>A	c.(580-582)GAT>AAT	p.D194N	CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tir.2_Missense_Mutation_p.D194N|SYCP3_uc001tis.2_Missense_Mutation_p.D194N	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	194	Potential.|Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding				0						AGTAGATTATCATGATTCTTC	0.294												
OAS3	4940	broad.mit.edu	37	12	113388664	113388664	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:113388664G>A	uc001tug.2	+	7	1628	c.1541G>A	c.(1540-1542)AGC>AAC	p.S514N		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	514	OAS domain 2.				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						CAGGTGCCCAGCCTGAGCCTT	0.602												
KNTC1	9735	broad.mit.edu	37	12	123068996	123068996	+	Silent	SNP	A	A	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr12:123068996A>C	uc001ucv.2	+	35	3598	c.3435A>C	c.(3433-3435)CCA>CCC	p.P1145P	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1145					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)		TTTGCAGTCCAGGTGACAATA	0.413												
GPC6	10082	broad.mit.edu	37	13	95050872	95050872	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr13:95050872A>T	uc001vlt.2	+	8	2074	c.1442A>T	c.(1441-1443)AAT>ATT	p.N481I		NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	481						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)				TACAATGGCAATGATGTCAAT	0.418												
TC2N	123036	broad.mit.edu	37	14	92264149	92264149	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr14:92264149A>C	uc001xzu.3	-	8	1026	c.835T>G	c.(835-837)TCA>GCA	p.S279A	TC2N_uc001xzt.3_Missense_Mutation_p.S279A|TC2N_uc010auc.2_Missense_Mutation_p.S279A|TC2N_uc001xzv.3_Missense_Mutation_p.S279A	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	279						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		TCCTTGGCTGAAGATTTGAAA	0.348												
KIAA0284	283638	broad.mit.edu	37	14	105353627	105353627	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr14:105353627G>A	uc010axb.2	+	12	3275	c.3051G>A	c.(3049-3051)CCG>CCA	p.P1017P	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.P947P|KIAA0284_uc001yps.2_Silent_p.P923P|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1017						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)		CACTTGGCCCGACGGACATGG	0.692												
FBN1	2200	broad.mit.edu	37	15	48779557	48779557	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr15:48779557C>T	uc001zwx.1	-	28	3743	c.3415G>A	c.(3415-3417)GAA>AAA	p.E1139K		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1139	EGF-like 17; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCGGGCATTCACAGCGGTAA	0.483												
MYO5A	4644	broad.mit.edu	37	15	52664321	52664321	+	Silent	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr15:52664321C>T	uc002aby.2	-	21	3061	c.2817G>A	c.(2815-2817)CAG>CAA	p.Q939Q	MYO5A_uc002abx.3_Silent_p.Q939Q|MYO5A_uc010uge.1_Silent_p.Q808Q	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	939	Potential.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGAAACACACCTGCTCATCAA	0.463												
CIB1	10519	broad.mit.edu	37	15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr15:90775542C>A	uc002bpb.3	-	3	266	c.104G>T	c.(103-105)TGT>TTT	p.C35F	C15orf58_uc002bpc.2_5'Flank	NM_006384	NP_006375	Q99828	CIB1_HUMAN	calcium and integrin binding 1	35					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587												
LRRK1	79705	broad.mit.edu	37	15	101566255	101566255	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr15:101566255C>T	uc002bwr.2	+	17	2637	c.2318C>T	c.(2317-2319)ACG>ATG	p.T773M	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	773	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGATTGCAACGCTGCGTGCC	0.597												
USP7	7874	broad.mit.edu	37	16	8998312	8998312	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr16:8998312G>A	uc002czl.2	-	15	1883	c.1684C>T	c.(1684-1686)CAT>TAT	p.H562Y	USP7_uc010uyk.1_Missense_Mutation_p.H463Y|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.H463Y|USP7_uc002czk.2_Missense_Mutation_p.H546Y|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	562					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						ATATAGAGATGGGCTTCCTGC	0.582												
MYLPF	29895	broad.mit.edu	37	16	30387532	30387532	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr16:30387532G>A	uc002dxv.1	+	3	219	c.163G>A	c.(163-165)GCA>ACA	p.A55T		NM_013292	NP_037424	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast	55	EF-hand 1.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle				0			Colorectal(24;0.193)			GGACACCTTCGCAGCCATGGG	0.478												
CDH8	1006	broad.mit.edu	37	16	61851482	61851483	+	Missense_Mutation	DNP	GA	GA	AG			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr16:61851482_61851483GA>AG	uc002eog.1	-	7	1429_1430	c.1177_1178TC>CT	c.(1177-1179)TCA>CTA	p.S393L	CDH8_uc002eoh.2_Missense_Mutation_p.S162L	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	393	Extracellular (Potential).|Cadherin 4.				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)		GTAAGTCGGTGAAGAGAAGACC	0.495												
NUDT7	283927	broad.mit.edu	37	16	77775522	77775522	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr16:77775522A>T	uc010chd.2	+	4	461	c.392A>T	c.(391-393)AAC>ATC	p.N131I	NUDT7_uc010vnj.1_Missense_Mutation_p.N78I	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	nudix motif 7	131	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			ovary(1)|kidney(1)	2						ATAGACCACAACTTCCAGGCC	0.428												
PRPF8	10594	broad.mit.edu	37	17	1579329	1579329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr17:1579329G>A	uc002fte.2	-	18	2686	c.2572C>T	c.(2572-2574)CAG>TAG	p.Q858*		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	858						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTCTGAGACTGGTTCAACCGA	0.532												
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr17:7577548C>T	uc002gim.2	-	7	927	c.733G>A	c.(733-735)GGC>AGC	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	245	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
EVI2B	2124	broad.mit.edu	37	17	29631855	29631855	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr17:29631855C>G	uc002hgk.2	-	2	928	c.773G>C	c.(772-774)AGA>ACA	p.R258T	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.R273T	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	258	Cytoplasmic (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTCATTTTCTCTGATGTTATC	0.363												
MED24	9862	broad.mit.edu	37	17	38185183	38185183	+	Silent	SNP	C	C	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr17:38185183C>A	uc002htt.2	-	14	1618	c.1305G>T	c.(1303-1305)CTG>CTT	p.L435L	MED24_uc010wes.1_Silent_p.L295L|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.L460L|MED24_uc002htu.2_Silent_p.L422L|MED24_uc010cwn.2_Silent_p.L422L|MED24_uc010weu.1_Silent_p.L345L|MED24_uc010wev.1_Silent_p.L385L|MED24_uc010wew.1_Silent_p.L376L|MED24_uc010wex.1_Silent_p.L140L	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	435					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					GGACTCCCAGCAGTCCCTCCG	0.582												
METTL2A	339175	broad.mit.edu	37	17	60525117	60525117	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr17:60525117C>G	uc002izv.2	+	8	990	c.972C>G	c.(970-972)TTC>TTG	p.F324L	METTL2A_uc002izw.2_Missense_Mutation_p.F188L	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	324							methyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GAGTTTACTTCTTCACACAAG	0.418												
NPLOC4	55666	broad.mit.edu	37	17	79573783	79573783	+	Silent	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr17:79573783C>T	uc002kat.3	-	7	770	c.588G>A	c.(586-588)GGG>GGA	p.G196G	NPLOC4_uc002kau.3_Silent_p.G196G|NPLOC4_uc010wur.1_Silent_p.G35G	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	196					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ACGGGAGGTGCCCCTCGCACC	0.502												
MUC16	94025	broad.mit.edu	37	19	9066002	9066002	+	Silent	SNP	T	T	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr19:9066002T>C	uc002mkp.2	-	3	21648	c.21444A>G	c.(21442-21444)GTA>GTG	p.V7148V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7150	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGAACTGGTTACAAGTTCTG	0.498												
TSHZ3	57616	broad.mit.edu	37	19	31767537	31767537	+	Missense_Mutation	SNP	G	G	C	rs145440380	byFrequency	TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr19:31767537G>C	uc002nsy.3	-	2	3227	c.3162C>G	c.(3160-3162)CAC>CAG	p.H1054Q		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	1054	C2H2-type 5.				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)					GTTTAACAGCGTGCTTGCTGG	0.483												
PPP1R12C	54776	broad.mit.edu	37	19	55603602	55603602	+	Silent	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr19:55603602C>T	uc002qix.2	-	19	2164	c.2148G>A	c.(2146-2148)GAG>GAA	p.E716E	PPP1R12C_uc010yfs.1_Silent_p.E641E|PPP1R12C_uc002qiy.2_Silent_p.E714E	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	716	Potential.					cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCGTGGCCCGCTCCAGCTCCA	0.706												
NLRP13	126204	broad.mit.edu	37	19	56423693	56423693	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr19:56423693G>A	uc010ygg.1	-	5	1515	c.1490C>T	c.(1489-1491)ACG>ATG	p.T497M		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	497	NACHT.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTTGTTAAACGTGAAGTTCAT	0.483												
EIF2AK3	9451	broad.mit.edu	37	2	88883033	88883033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr2:88883033G>A	uc002stc.3	-	10	1880	c.1678C>T	c.(1678-1680)CAA>TAA	p.Q560*		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	560	Cytoplasmic (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTTTCAGTTTGACACTGAGTT	0.338												
RANBP2	5903	broad.mit.edu	37	2	109382496	109382496	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr2:109382496G>C	uc002tem.3	+	20	5627	c.5501G>C	c.(5500-5502)GGA>GCA	p.G1834A		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1834					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GACTCTTCTGGAAGTCAGGTG	0.413												
SLC4A10	57282	broad.mit.edu	37	2	162719476	162719476	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr2:162719476C>A	uc002ubx.3	+	6	854	c.670C>A	c.(670-672)CAG>AAG	p.Q224K	SLC4A10_uc010fpa.1_Missense_Mutation_p.Q236K|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.Q224K|SLC4A10_uc010zcs.1_Missense_Mutation_p.Q235K	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	224	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						GCATCATCATCAGAATCAGAA	0.418												
TTN	7273	broad.mit.edu	37	2	179424095	179424095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr2:179424095C>A	uc010zfg.1	-	275	79284	c.79060G>T	c.(79060-79062)GAA>TAA	p.E26354*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E20049*|TTN_uc010zfi.1_Nonsense_Mutation_p.E19982*|TTN_uc010zfj.1_Nonsense_Mutation_p.E19857*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27281							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)			AACTCATTTTCTCCAGAGACT	0.373												
COL4A4	1286	broad.mit.edu	37	2	227917059	227917059	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr2:227917059G>A	uc010zlt.1	-	32	3584	c.2930C>T	c.(2929-2931)CCT>CTT	p.P977L		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	977	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGAGGTCCAGGTTCCCCAGG	0.398												
TMC2	117532	broad.mit.edu	37	20	2582792	2582792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr20:2582792G>T	uc002wgf.1	+	11	1273	c.1258G>T	c.(1258-1260)GAA>TAA	p.E420*	TMC2_uc002wgg.1_Nonsense_Mutation_p.E404*|TMC2_uc010zpw.1_Nonsense_Mutation_p.E252*|TMC2_uc010zpx.1_Nonsense_Mutation_p.E251*	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	420	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						GAGTAACAAAGAAGAAAATAT	0.403												
CHD6	84181	broad.mit.edu	37	20	40044276	40044276	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr20:40044276C>G	uc002xka.1	-	34	6667	c.6489G>C	c.(6487-6489)GAG>GAC	p.E2163D	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2163					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)				CTAAGAAGCTCTCCTGTGAAC	0.498												
EDN3	1908	broad.mit.edu	37	20	57899407	57899407	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr20:57899407A>G	uc002yap.2	+	5	979	c.610A>G	c.(610-612)AGC>GGC	p.S204G	EDN3_uc002yao.1_Silent_p.K188K|EDN3_uc002yaq.2_Missense_Mutation_p.S204G|EDN3_uc002yar.2_Silent_p.K215K|EDN3_uc002yas.2_Missense_Mutation_p.S190G	NM_000114	NP_000105	P14138	EDN3_HUMAN	endothelin 3 isoform 1 preproprotein	204					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			skin(1)	1	all_lung(29;0.0115)					GGACCAACAAAGCAAGCAGGC	0.512												
AGPAT3	56894	broad.mit.edu	37	21	45391318	45391318	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr21:45391318G>A	uc002zdv.2	+	7	936	c.714G>A	c.(712-714)CCG>CCA	p.P238P	AGPAT3_uc002zdw.2_Silent_p.P238P|AGPAT3_uc002zdx.2_Silent_p.P325P|AGPAT3_uc002zdy.2_Silent_p.P176P	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	238	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		ACAAGAACCCGTCCCTGCTGG	0.607												
KCTD17	79734	broad.mit.edu	37	22	37455391	37455391	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr22:37455391G>A	uc010gxb.2	+	5	547	c.525G>A	c.(523-525)GAG>GAA	p.E175E	KCTD17_uc010gxa.1_Silent_p.E175E|KCTD17_uc011amv.1_Silent_p.E182E|KCTD17_uc010gxc.2_Silent_p.E175E	NM_024681	NP_078957	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerisation domain	182						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0						ACGGCAGCGAGGACCAGGCAG	0.612												
TRIOBP	11078	broad.mit.edu	37	22	38130970	38130970	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr22:38130970G>C	uc003atr.2	+	9	4898	c.4627G>C	c.(4627-4629)GGA>CGA	p.G1543R	TRIOBP_uc003atu.2_Missense_Mutation_p.G1371R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1543					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GGGGGCAGAGGGAGCGTGTCC	0.677												
SCUBE1	80274	broad.mit.edu	37	22	43600117	43600117	+	Silent	SNP	C	C	T	rs142852064		TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr22:43600117C>T	uc003bdt.1	-	22	2941	c.2853G>A	c.(2851-2853)GCG>GCA	p.A951A		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	951					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)				TCTGGGGATGCGCCAGCACGT	0.567												
SCN10A	6336	broad.mit.edu	37	3	38781019	38781019	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:38781019C>T	uc003ciq.2	-	14	2267	c.2267G>A	c.(2266-2268)CGG>CAG	p.R756Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	756	Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).|II.				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)	GCGGAAGCTCCGCAGCACAGA	0.522												
SCN11A	11280	broad.mit.edu	37	3	38913761	38913761	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:38913761A>C	uc011ays.1	-	20	3617	c.3418T>G	c.(3418-3420)TTA>GTA	p.L1140V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1140	Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AATTCCATTAAGTTAATGAGG	0.478												
COL7A1	1294	broad.mit.edu	37	3	48623397	48623397	+	Silent	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:48623397C>T	uc003ctz.2	-	28	3736	c.3735G>A	c.(3733-3735)GAG>GAA	p.E1245E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1245	Nonhelical region (NC1).				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)		CTGGGCAGGGCTCTGGCCGGG	0.557												
SI	6476	broad.mit.edu	37	3	164750331	164750331	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:164750331G>T	uc003fei.2	-	24	2777	c.2715C>A	c.(2713-2715)TTC>TTA	p.F905L		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	905	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CATCATAAGTGAAATTGGAAT	0.323										HNSCC(35;0.089)		
SLC7A14	57709	broad.mit.edu	37	3	170198405	170198405	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:170198405G>A	uc003fgz.2	-	7	1982	c.1666C>T	c.(1666-1668)CGG>TGG	p.R556W	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	556						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCTGTGGGCCGGTCCATTTTG	0.488												
MRPL47	57129	broad.mit.edu	37	3	179311619	179311619	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:179311619A>C	uc003fjz.2	-	5	489	c.467T>G	c.(466-468)CTT>CGT	p.L156R	MRPL47_uc003fka.2_Missense_Mutation_p.L46R|MRPL47_uc003fkb.2_Missense_Mutation_p.L136R	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	156					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			ACCAGTCTGAAGAAGCCTTAG	0.398												
TP63	8626	broad.mit.edu	37	3	189607201	189607201	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:189607201C>T	uc003fry.2	+	12	1669	c.1580C>T	c.(1579-1581)CCC>CTC	p.P527L	TP63_uc003frz.2_Missense_Mutation_p.P527L|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Missense_Mutation_p.P433L|TP63_uc003fsd.2_Missense_Mutation_p.P433L|TP63_uc010hzd.1_Missense_Mutation_p.P348L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	527					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCACTCCCTCCCCCACTCTCC	0.592									Hay-Wells_syndrome	HNSCC(45;0.13)		
FYTTD1	84248	broad.mit.edu	37	3	197501044	197501044	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr3:197501044C>G	uc003fyi.2	+	6	838	c.619C>G	c.(619-621)CAA>GAA	p.Q207E	FYTTD1_uc011bui.1_Missense_Mutation_p.Q181E|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_Missense_Mutation_p.Q140E	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1 isoform 1	207					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		GAATACAGAACAACTGCTAGA	0.403												
NIPAL1	152519	broad.mit.edu	37	4	48037691	48037691	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr4:48037691G>A	uc003gxw.2	+	6	801	c.735G>A	c.(733-735)TTG>TTA	p.L245L		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	245	Helical; (Potential).					integral to membrane					0						TCTGTTCCTTGATTGGAGCGT	0.408												
CENPE	1062	broad.mit.edu	37	4	104067005	104067005	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr4:104067005A>G	uc003hxb.1	-	30	4484	c.4394T>C	c.(4393-4395)ATA>ACA	p.I1465T	CENPE_uc003hxc.1_Missense_Mutation_p.I1440T	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1465	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AATTTCTTTTATGTTTTCTTT	0.318												
MYOZ2	51778	broad.mit.edu	37	4	120072095	120072095	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr4:120072095C>T	uc003icp.3	+	3	358	c.145C>T	c.(145-147)CAT>TAT	p.H49Y		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	myozenin 2	49							protein phosphatase 2B binding				0						AGAATTATCCCATCTCAGTAA	0.383												
MARCH1	55016	broad.mit.edu	37	4	164466760	164466760	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr4:164466760C>T	uc003iqs.1	-	7	1536	c.559G>A	c.(559-561)GGC>AGC	p.G187S	MARCH1_uc003iqr.1_Missense_Mutation_p.G170S	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	187					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGTCATTGCCTTGCTTGATT	0.443												
RICTOR	253260	broad.mit.edu	37	5	39002671	39002671	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr5:39002671C>A	uc003jlp.2	-	5	382	c.358G>T	c.(358-360)GTG>TTG	p.V120L	RICTOR_uc003jlo.2_Missense_Mutation_p.V120L|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Missense_Mutation_p.V104L|RICTOR_uc011cpk.1_Missense_Mutation_p.V120L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	120					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					AATTTTAGCACCTTCTGGAGA	0.378												
PCDHA13	56136	broad.mit.edu	37	5	140263750	140263750	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr5:140263750A>T	uc003lif.2	+	1	1897	c.1897A>T	c.(1897-1899)ACG>TCG	p.T633S	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_Missense_Mutation_p.T633S|PCDHA13_uc003lid.2_Missense_Mutation_p.T633S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	633	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)			CGAGATCAGCACGACGCGCCC	0.677												
FAT2	2196	broad.mit.edu	37	5	150947107	150947107	+	Silent	SNP	G	G	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr5:150947107G>T	uc003lue.3	-	1	1399	c.1386C>A	c.(1384-1386)TCC>TCA	p.S462S	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S462S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	462	Cadherin 4.|Extracellular (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)			TACCATCATAGGAAGACCTGT	0.527												
HLA-G	3135	broad.mit.edu	37	6	29795915	29795915	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:29795915G>A	uc003nnw.2	+	3	343	c.165G>A	c.(163-165)ACG>ACA	p.T55T	HLA-G_uc011dmb.1_Silent_p.T27T|HLA-G_uc003raj.3_Silent_p.T60T|HLA-G_uc003nnz.3_Silent_p.T55T|HLA-G_uc010jrn.2_Silent_p.T55T|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	55	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			ovary(3)|central_nervous_system(1)	4						TGGACGACACGCAGTTCGTGC	0.701												
FGD2	221472	broad.mit.edu	37	6	36978786	36978786	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:36978786C>T	uc010jwp.1	+	3	509	c.338C>T	c.(337-339)ACA>ATA	p.T113I	FGD2_uc011dtu.1_Missense_Mutation_p.T113I|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	113	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						CTGCTGGAGACAGAGCAGGCC	0.612												
SOBP	55084	broad.mit.edu	37	6	107955296	107955296	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:107955296G>A	uc003prx.2	+	6	1752	c.1248G>A	c.(1246-1248)CCG>CCA	p.P416P		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	416	Pro-rich.						metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCGGGCCTCCGCACCATGCCT	0.692												
SOBP	55084	broad.mit.edu	37	6	107956313	107956313	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:107956313G>A	uc003prx.2	+	6	2769	c.2265G>A	c.(2263-2265)AAG>AAA	p.K755K		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	755	Pro-rich.						metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CGCCCCCCAAGAAGCTGCTGT	0.607												
HEY2	23493	broad.mit.edu	37	6	126080831	126080831	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:126080831G>A	uc003qad.2	+	5	1088	c.897G>A	c.(895-897)GCG>GCA	p.A299A	HEY2_uc011ebr.1_Silent_p.A253A	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	299	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CAGTGGCCGCGGCCACAGCCA	0.642												
MOXD1	26002	broad.mit.edu	37	6	132636888	132636888	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:132636888C>T	uc003qdf.2	-	10	1493	c.1394G>A	c.(1393-1395)TGT>TAT	p.C465Y	MOXD1_uc003qde.2_Missense_Mutation_p.C397Y	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	465	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GTATGAGAGACACATTTCACT	0.368												
THSD7A	221981	broad.mit.edu	37	7	11630118	11630118	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr7:11630118G>A	uc003ssf.3	-	4	1674	c.1422C>T	c.(1420-1422)CTC>CTT	p.L474L		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	474	Extracellular (Potential).|TSP type-1 4.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTAATTGTGAGAGGAGGTTTT	0.517										HNSCC(18;0.044)		
DNAH11	8701	broad.mit.edu	37	7	21598510	21598510	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr7:21598510A>G	uc003svc.2	+	3	617	c.586A>G	c.(586-588)AAA>GAA	p.K196E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	196	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AGAAGTCATGAAAAAGAAGAT	0.358									Kartagener_syndrome			
GLI3	2737	broad.mit.edu	37	7	42116407	42116408	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr7:42116407_42116408GG>CT	uc011kbh.1	-	4	507_508	c.416_417CC>AG	c.(415-417)GCC>GAG	p.A139E	GLI3_uc011kbg.1_Missense_Mutation_p.A80E	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	139					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CATGATGTCTGGCATCAATTGG	0.421									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
ZNF498	221785	broad.mit.edu	37	7	99227574	99227574	+	Silent	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr7:99227574C>T	uc003url.1	+	8	1893	c.1566C>T	c.(1564-1566)AGC>AGT	p.S522S	ZNF498_uc003urm.1_Silent_p.S358S|ZNF498_uc010lge.1_Silent_p.S358S|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Silent_p.S450S|ZNF498_uc003uro.1_Silent_p.S306S	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	522	C2H2-type 7; degenerate.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GCGGGCGAAGCTTCAACCAGA	0.622												
CUX1	1523	broad.mit.edu	37	7	101839960	101839960	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr7:101839960G>A	uc003uyx.3	+	15	1307	c.1269G>A	c.(1267-1269)CCG>CCA	p.P423P	CUX1_uc003uys.3_Silent_p.P434P|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	423					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GTCGGCGCCCGGGATCTTTGC	0.567												
TUSC3	7991	broad.mit.edu	37	8	15519792	15519792	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr8:15519792C>A	uc003wwt.2	+	5	905	c.695C>A	c.(694-696)GCC>GAC	p.A232D	TUSC3_uc003wwr.2_Missense_Mutation_p.A232D|TUSC3_uc003wws.2_Missense_Mutation_p.A232D|TUSC3_uc003wwu.2_Missense_Mutation_p.A232D|TUSC3_uc003wwv.2_Missense_Mutation_p.A232D|TUSC3_uc003www.2_Missense_Mutation_p.A232D|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.A232D	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	232	Helical; (Potential).				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		ACTGGTTGGGCCATGGTGTCT	0.358												
SCARA5	286133	broad.mit.edu	37	8	27729526	27729526	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr8:27729526G>A	uc003xgj.2	-	9	1853	c.1413C>T	c.(1411-1413)CGC>CGT	p.R471R	SCARA5_uc010luz.2_Silent_p.R246R	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	471	SRCR.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		AGAAGCTGCAGCGGAAGATGG	0.552												
FABP12	646486	broad.mit.edu	37	8	82441753	82441753	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr8:82441753T>A	uc011lfp.1	-	2	166	c.166A>T	c.(166-168)AGC>TGC	p.S56C	FABP12_uc003ycg.3_RNA	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	56							lipid binding|transporter activity				0						TTAAAGATGCTTTTGGTTTTT	0.448												
WDR67	93594	broad.mit.edu	37	8	124138363	124138363	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr8:124138363A>C	uc003ypp.1	+	12	1728	c.1638A>C	c.(1636-1638)GAA>GAC	p.E546D	WDR67_uc011lig.1_Missense_Mutation_p.E546D|WDR67_uc011lih.1_Missense_Mutation_p.E436D|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.E259D|WDR67_uc003ypt.1_Missense_Mutation_p.E3D|WDR67_uc003ypu.1_Missense_Mutation_p.E3D	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	546	Rab-GAP TBC.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCATGATAGAAAATGTTTTGG	0.328												
WISP1	8840	broad.mit.edu	37	8	134239806	134239806	+	Silent	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr8:134239806C>T	uc003yub.2	+	5	1033	c.957C>T	c.(955-957)GAC>GAT	p.D319D	WISP1_uc003yuc.2_Silent_p.D232D|WISP1_uc010meb.2_Silent_p.D147D|WISP1_uc010mec.2_3'UTR|WISP1_uc010med.2_Silent_p.D74D|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	319	CTCK.				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)			AGACTATCGACGTGTCCTTCC	0.517												
PLEC	5339	broad.mit.edu	37	8	144998480	144998480	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr8:144998480C>T	uc003zaf.1	-	31	6198	c.6028G>A	c.(6028-6030)GAG>AAG	p.E2010K	PLEC_uc003zab.1_Missense_Mutation_p.E1873K|PLEC_uc003zac.1_Missense_Mutation_p.E1877K|PLEC_uc003zad.2_Missense_Mutation_p.E1873K|PLEC_uc003zae.1_Missense_Mutation_p.E1841K|PLEC_uc003zag.1_Missense_Mutation_p.E1851K|PLEC_uc003zah.2_Missense_Mutation_p.E1859K|PLEC_uc003zaj.2_Missense_Mutation_p.E1900K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2010	Central fibrous rod domain.|Potential.				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						TGGAAGGCCTCGTCCTCCGCC	0.716												
SUSD1	64420	broad.mit.edu	37	9	114875119	114875119	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr9:114875119G>A	uc004bfu.2	-	7	957	c.916C>T	c.(916-918)CTG>TTG	p.L306L	SUSD1_uc010mui.2_Silent_p.L306L|SUSD1_uc010muj.2_Silent_p.L306L	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	306	Extracellular (Potential).					integral to membrane	calcium ion binding				0						TCATTAAACAGTGATACATCA	0.348												
OBP2A	29991	broad.mit.edu	37	9	138440642	138440642	+	Missense_Mutation	SNP	G	G	A	rs141373494	byFrequency	TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr9:138440642G>A	uc004cgb.2	+	5	519	c.477G>A	c.(475-477)ATG>ATA	p.M159I	OBP2A_uc004cgc.2_Missense_Mutation_p.C181Y|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Missense_Mutation_p.M136I	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN	odorant binding protein 2A precursor	159					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		ACATTTTCATGCCCCTGCAGA	0.562												
ARSF	416	broad.mit.edu	37	X	3002363	3002363	+	Silent	SNP	C	C	T	rs138766548	byFrequency	TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chrX:3002363C>T	uc004cre.1	+	6	707	c.486C>T	c.(484-486)TAC>TAT	p.Y162Y	ARSF_uc004crf.1_Silent_p.Y162Y	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	162						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGACTACTACTATGGCATGC	0.507												
MAGEB3	4114	broad.mit.edu	37	X	30254929	30254929	+	Silent	SNP	T	T	C			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chrX:30254929T>C	uc004dca.1	+	5	1625	c.888T>C	c.(886-888)AAT>AAC	p.N296N		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	296	MAGE.										0						CCAAGGTCAATAAAACTGTCC	0.498												
HUWE1	10075	broad.mit.edu	37	X	53579769	53579769	+	Silent	SNP	G	G	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chrX:53579769G>A	uc004dsp.2	-	62	8982	c.8580C>T	c.(8578-8580)AGC>AGT	p.S2860S	HUWE1_uc004dsn.2_Silent_p.S1684S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2860					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AAGCCAGGCTGCTTGTATCCA	0.572												
PITX1	5307	broad.mit.edu	37	5	134364978	134364979	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr5:134364978_134364979insA	uc010jea.2	-	3	828_829	c.435_436insT	c.(433-438)CGTAAGfs	p.R145fs	PITX1_uc011cxy.1_Frame_Shift_Ins_p.R145fs	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	145_146	Homeobox.					nucleolus	sequence-specific DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGCTCGCGCTTACGCCACTTGG	0.688												
ARID1A	8289	broad.mit.edu	37	1	27057803	27057804	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:27057802_27057803CCA>C	uc001bmv.1	+	2	1883_1884	c.1510_1511CCA>C	c.(1510-1512)ccafs	p.P504fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.P504fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.P504fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.P121fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	504					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.P504fs*125(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCAGCAGCAGCCACAGTCTCAA	0.609			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
MACF1	23499	broad.mit.edu	37	1	39799060	39799061	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr1:39799059_39799060A>AG	uc021olw.1	+	0	2119_2120	c.2119_2120A>AG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391												
PITX1	5307	broad.mit.edu	37	5	134364979	134364980	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr5:134364978_134364979T>TA	uc010jea.3	-	2	828_829	c.435_436A>TA	c.(433-438)cgtaagfs	p.R145fs		NM_002653	NP_002644	P78337	PITX1_HUMAN	Homo sapiens paired-like homeodomain 1 (PITX1), mRNA.	145						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGCTCGCGCTTACGCCACTTGG	0.688												
BYSL	705	broad.mit.edu	37	6	41889330	41889331	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr6:41889329_41889330T>TG	uc003orl.3	+	0	365_366	c.29_30T>TG	c.(28-30)gtgfs	p.V10fs	MED20_uc003orj.3_5'Flank|MED20_uc003ork.3_5'Flank|MED20_uc011duh.2_5'Flank|MED20_uc011dui.2_5'Flank|MED20_uc011duj.2_5'Flank	NM_004053	NP_004044	Q13895	BYST_HUMAN	Homo sapiens bystin-like (BYSL), mRNA.	10					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCCGTGGGGTGGGGGGTCAGG	0.649											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IKBKAP	8518	broad.mit.edu	37	9	111640313	111640313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr9:111640312_111640312AT>A	uc004bdm.4	-	34	4338	c.3818_3818AT>T	c.(3817-3819)attfs	p.I1273fs	IKBKAP_uc004bdl.3_Frame_Shift_Del_p.I924fs|IKBKAP_uc011lwc.2_Frame_Shift_Del_p.I1159fs|IKBKAP_uc010mtq.3_Frame_Shift_Del_p.I924fs|IKBKAP_uc004bdk.3_Frame_Shift_Del_p.I277fs|IKBKAP_uc010mtp.3_Non-coding_Transcript	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	1273					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGAGTCCAAATTTCTGGAAG	0.398												
MUC6	4588	broad.mit.edu	37	11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FP-8631-01A-11D-2394-08	TCGA-FP-8631-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b6b2897-e3b5-4ede-ad77-9a16afcc575b	f3ffe320-f841-4be7-ba82-a5ff6c38ebb1	g.chr11:1016411_1016413TGAG>T	uc001lsw.2	-	30	6439_6441	c.6388_6390CTCA>A	c.(6388-6390)tca>A	p.S2130del		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2130	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S2130delS(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		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)		TGGGAGAAAATGAGGAGGACAGC	0.522												
