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	ACHILLES_Top_Genes	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	C	G	rs143004725	by1000genomes	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:12885059C>G	uc001auk.2	-	4	1248	c.1052G>C	c.(1051-1053)TGC>TCC	p.C351S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	PRAME family member 11	351	LRR 6.										0						GGTGGCCATGCAGATGGGATT	0.532			NA											6	364					0	0	0.00307968	0	0
AKR7A2	8574	broad.mit.edu	37	1	19633532	19633532	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:19633532A>G	uc001bbw.2	-	5	774	c.752T>C	c.(751-753)TTC>TCC	p.F251S	AKR7A2_uc001bbx.2_Missense_Mutation_p.F216S	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	251					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCCCAAAGAAGCGGCCCAC	0.597			NA											24	173					0	0	0.000720815	0	0
GRHL3	57822	broad.mit.edu	37	1	24668675	24668675	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:24668675A>G	uc001biy.2	+	9	1179	c.1133A>G	c.(1132-1134)AAC>AGC	p.N378S	GRHL3_uc001bix.2_Missense_Mutation_p.N373S|GRHL3_uc001biz.2_Missense_Mutation_p.N280S	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	373					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTCCCCCTGAACCTGCAGATT	0.562			NA											14	154					0	0	0.00316338	0	0
EPHA10	284656	broad.mit.edu	37	1	38227383	38227383	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:38227383G>A	uc009vvi.2	-	3	630	c.544C>T	c.(544-546)CCG>TCG	p.P182S	EPHA10_uc001cbw.3_Missense_Mutation_p.P182S	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	182	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGCTGAGCGGTCCGATCTCG	0.657			NA											42	38					0	0	0.00361006	0	0
KANK4	163782	broad.mit.edu	37	1	62740052	62740052	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:62740052G>T	uc001dah.3	-	3	1101	c.724C>A	c.(724-726)CCA>ACA	p.P242T	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	242	Pro-rich.									ovary(3)|skin(2)|lung(1)	6						AGGTGATTTGGAACCTTCACC	0.542			NA											17	49					1.45105e-14	6.44537e-14	0.00074312	1	0
CHIA	27159	broad.mit.edu	37	1	111857983	111857983	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:111857983G>T	uc001eas.2	+	6	509	c.406G>T	c.(406-408)GAC>TAC	p.D136Y	CHIA_uc001ear.2_Missense_Mutation_p.D28Y|CHIA_uc001eaq.2_Missense_Mutation_p.D28Y|CHIA_uc009wgc.2_Missense_Mutation_p.D28Y|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	136					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGACGGGCTGGACTTTGACTG	0.542			NA											69	83					4.46356e-37	2.02986e-36	0.00361006	1	0
NUDT17	200035	broad.mit.edu	37	1	145586632	145586633	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:145586632_145586633CA>AT	uc001eoe.2	-	8	951_952	c.943_944TG>AT	c.(943-945)TGG>ATG	p.W315M	NBPF10_uc001emp.3_Intron	NM_001012758	NP_001012776	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety	315							hydrolase activity|metal ion binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCATGTTCCATTCTTCCTTT	0.52			NA											9	113					0	0	6.4e-05	0	0
ASH1L	55870	broad.mit.edu	37	1	155349869	155349869	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:155349869G>A	uc009wqq.2	-	8	6637	c.6157C>T	c.(6157-6159)CCT>TCT	p.P2053S	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.P2048S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2053					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATATCATAAGGAAGCTGGAAG	0.368			NA											30	95					0	0	0.00283554	0	0
CD1B	910	broad.mit.edu	37	1	158299774	158299774	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:158299774C>G	uc001frx.2	-	3	583	c.475G>C	c.(475-477)GCA>CCA	p.A159P	CD1B_uc001frw.2_Missense_Mutation_p.A52P	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	159	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)					AATTTCTGTGCCCTGCTGCCA	0.483			NA											4	260					0	0	0.000602214	0	0
LAMB3	3914	broad.mit.edu	37	1	209807939	209807939	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:209807939G>A	uc001hhg.2	-	5	807	c.417C>T	c.(415-417)TTC>TTT	p.F139F	LAMB3_uc009xco.2_Silent_p.F139F|LAMB3_uc001hhh.2_Silent_p.F139F|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	139	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGGTCTTACCGAAGTCTGAGG	0.667			NA											7	30					0	0	0.00198382	0	0
FAM71A	149647	broad.mit.edu	37	1	212798521	212798521	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:212798521A>C	uc001hjk.2	+	1	706	c.302A>C	c.(301-303)CAT>CCT	p.H101P	uc010pth.1_Intron	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	101										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TATGCTGGACATGGCCAGGCC	0.557			NA											32	82					0	0	0.00178596	0	0
RYR2	6262	broad.mit.edu	37	1	237947335	237947335	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:237947335A>G	uc001hyl.1	+	90	12443	c.12323A>G	c.(12322-12324)CAC>CGC	p.H4108R	RYR2_uc010pya.1_Missense_Mutation_p.H523R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4108					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCTCTGAGCACATGCCCAAC	0.512			NA											9	63					0	0	0.000442599	0	0
NODAL	4838	broad.mit.edu	37	10	72195117	72195117	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr10:72195117G>A	uc001jrc.2	-	2	858	c.816C>T	c.(814-816)AAC>AAT	p.N272N		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	nodal precursor	272					growth	extracellular space	cytokine activity|growth factor activity			large_intestine(1)|kidney(1)	2						AGCGATAGGCGTTGTACTGCT	0.557			NA											27	13					0	0	0.000878237	0	0
PLAU	5328	broad.mit.edu	37	10	75673358	75673358	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr10:75673358G>A	uc001jwa.2	+	7	668	c.522G>A	c.(520-522)AGG>AGA	p.R174R	C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Silent_p.R157R|PLAU_uc010qkx.1_Silent_p.R88R|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Silent_p.R174R|PLAU_uc009xrq.1_Silent_p.R138R	NM_002658	NP_002649	P00749	UROK_HUMAN	plasminogen activator, urokinase isoform 1	174	Connecting peptide.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(2)|kidney(1)	3	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AGACTCTGAGGCCCCGCTTTA	0.532			NA											41	275					0	0	0.00195071	0	0
MAT1A	4143	broad.mit.edu	37	10	82049168	82049168	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr10:82049168C>T	uc001kbw.2	-	1	267	c.12G>A	c.(10-12)CCG>CCA	p.P4P		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	4					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGCCATCCACCGGTCCATTCA	0.443			NA											31	70					0	0	0.00209593	0	0
LRRC27	80313	broad.mit.edu	37	10	134179056	134179056	+	Splice_Site	SNP	T	T	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr10:134179056T>G	uc010quw.1	+	10	1611	c.1416_splice	c.e10+2	p.I472_splice	LRRC27_uc001llg.2_Splice_Site|LRRC27_uc001lli.2_Splice_Site_p.I472_splice|LRRC27_uc001llj.2_Splice_Site_p.I410_splice|LRRC27_uc001llk.3_Splice_Site_p.I345_splice	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27 isoform a											ovary(1)	1		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTGGAAATTGTAAGGATTTCT	0.328			NA											6	48					0	0	0.00116845	0	0
OR52E6	390078	broad.mit.edu	37	11	5862730	5862730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:5862730C>T	uc010qzq.1	-	1	398	c.398G>A	c.(397-399)TGG>TAG	p.W133*	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGTGTACCAAAGAGGTTT	0.468			NA											53	216					0	0	0.00361006	0	0
KCNC1	3746	broad.mit.edu	37	11	17757771	17757771	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:17757771C>T	uc001mnk.3	+	1	277	c.222C>T	c.(220-222)GGC>GGT	p.G74G	KCNC1_uc009yhc.1_Silent_p.G74G	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	74	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						ACCGCACGGGCAAGCTGCACT	0.652			NA											5	75					0	0	0.000602214	0	0
OR8H3	390152	broad.mit.edu	37	11	55890553	55890553	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:55890553G>C	uc001nii.1	+	1	705	c.705G>C	c.(703-705)CAG>CAC	p.Q235H		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.413			NA											38	112					0	0	0.00111076	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080491	57080491	+	Silent	SNP	A	A	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:57080491A>G	uc001njr.2	-	4	1983	c.1671T>C	c.(1669-1671)GAT>GAC	p.D557D	TNKS1BP1_uc001njs.2_Silent_p.D557D|TNKS1BP1_uc009ymd.1_Silent_p.D8D	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	557	Pro-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GACTCTCCCCATCGCCCTTCT	0.592			NA											12	37					0	0	0.00185496	0	0
OR4D6	219983	broad.mit.edu	37	11	59225216	59225216	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:59225216C>T	uc010rku.1	+	1	783	c.783C>T	c.(781-783)CCC>CCT	p.P261P		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACTGCCGGCCCTTCATGACGC	0.527			NA											47	97					0	0	0.00361006	0	0
AHNAK	79026	broad.mit.edu	37	11	62288527	62288527	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:62288527G>A	uc001ntl.2	-	5	13662	c.13362C>T	c.(13360-13362)ATC>ATT	p.I4454I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4454					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGGGAGCTTTGATGTTCATCT	0.443			NA											16	232					0	0	0.00400662	0	0
SCN2B	6327	broad.mit.edu	37	11	118047142	118047142	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:118047142T>A	uc001psf.2	-	1	196	c.5A>T	c.(4-6)CAC>CTC	p.H2L		NM_004588	NP_004579	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta	2				H -> Q (in Ref. 1; AAC26013).	synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		GGCATCTCTGTGCATTTTCAG	0.522			NA											14	87					0	0	0.00244969	0	0
VWA5A	4013	broad.mit.edu	37	11	123988563	123988563	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:123988563A>C	uc001pzu.2	+	4	436	c.227A>C	c.(226-228)GAA>GCA	p.E76A	VWA5A_uc001pzr.2_Missense_Mutation_p.E76A|VWA5A_uc001pzs.2_Missense_Mutation_p.E76A|VWA5A_uc010sae.1_Missense_Mutation_p.E92A|VWA5A_uc001pzt.2_Missense_Mutation_p.E76A	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	76	VIT.									upper_aerodigestive_tract(1)|ovary(1)	2						ATTGTAGCAGAATTACAAGAC	0.413			NA											72	38					0	0	0.00361006	0	0
Unknown	0	broad.mit.edu	37	12	92000	92000	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr12:92000A>T	uc010sdi.1	-	2	338	c.310T>A	c.(310-312)TTG>ATG	p.L104M	uc010sdj.1_RNA					SubName: Full=DEAD/H box polypeptide 11 like 11;												NA						GGTCCTGGCAACACTCTGGAC	0.572			NA											6	8					0	0	0.00307968	0	0
DDX12	440081	broad.mit.edu	37	12	9574020	9574020	+	Silent	SNP	T	T	C	rs149364690	by1000genomes	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr12:9574020T>C	uc010sgs.1	-	20	2211	c.2016A>G	c.(2014-2016)CTA>CTG	p.L672L	DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank	NM_004400	NP_004391			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12												0						ACGTGAATTCTAGCGGCTGGT	0.597			NA											3	59					0	0	0.000602214	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233993	10233993	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr12:10233993G>A	uc001qxb.2	-	3	318	c.234C>T	c.(232-234)CTC>CTT	p.L78L	CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Silent_p.L35L|CLEC1A_uc010sgx.1_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	78	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						CAGTATTGGAGAGCTGGTAGT	0.373			NA											9	48					0	0	0.000442599	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77220764	77220764	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr12:77220764T>C	uc001syk.1	+	9	1137	c.974T>C	c.(973-975)ATT>ACT	p.I325T	ZDHHC17_uc001syj.2_RNA	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	huntingtin interacting protein 14	325	Helical; (Potential).				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding				0						GACCTAAATATTGATTCTTGG	0.338			NA											5	116					0	0	0.00116845	0	0
MED13L	23389	broad.mit.edu	37	12	116446313	116446313	+	Silent	SNP	A	A	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr12:116446313A>G	uc001tvw.2	-	10	1960	c.1905T>C	c.(1903-1905)AGT>AGC	p.S635S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	635					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGAGACGATAACTATGCCACC	0.522			NA											7	34					0	0	0.00198382	0	0
CIT	11113	broad.mit.edu	37	12	120306960	120306960	+	Silent	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr12:120306960G>T	uc001txi.1	-	3	195	c.142C>A	c.(142-144)CGA>AGA	p.R48R	CIT_uc001txj.1_Silent_p.R48R	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	48					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATCCCTTCTCGGGAAAGAGGA	0.433			NA											6	189					0.00198382	0.0081779	0.00198382	1	0
SOHLH2	54937	broad.mit.edu	37	13	36748974	36748974	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr13:36748974C>G	uc001uvj.2	-	7	763	c.674G>C	c.(673-675)CGT>CCT	p.R225P	SOHLH2_uc010tei.1_Missense_Mutation_p.R302P	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	225	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CAAGAGAGTACGCAGCTGCTC	0.393			NA											3	54					0	0	6.4e-05	0	0
NEK5	341676	broad.mit.edu	37	13	52686454	52686454	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr13:52686454G>A	uc001vge.2	-	5	402	c.262C>T	c.(262-264)CTC>TTC	p.L88F	NEK5_uc001vgf.2_Missense_Mutation_p.L88F	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	88	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTTTTCATGAGATCCCCTCCA	0.373			NA											6	80					0	0	0.00198382	0	0
DIS3	22894	broad.mit.edu	37	13	73355908	73355908	+	Silent	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr13:73355908G>C	uc001vix.3	-	1	437	c.63C>G	c.(61-63)CGC>CGG	p.R21R	PIBF1_uc001vja.1_5'Flank|PIBF1_uc010aeo.1_5'Flank|PIBF1_uc001vjb.2_5'Flank|PIBF1_uc001vjc.2_5'Flank|PIBF1_uc010aep.2_5'Flank|DIS3_uc001viy.3_Silent_p.R21R|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	21					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GGTAGTGCTCGCGCACGATCT	0.677			NA								Multiple Myeloma(4;0.011)			13	10					0	0	0.00185496	0	0
OR4K5	79317	broad.mit.edu	37	14	20389038	20389038	+	Silent	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr14:20389038C>G	uc010tkw.1	+	1	273	c.273C>G	c.(271-273)ACC>ACG	p.T91T		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACACGAGACCATATCTTTCA	0.418			NA											29	580					0	0	0.001512	0	0
OR4N4	283694	broad.mit.edu	37	15	22332432	22332432	+	Translation_Start_Site	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr15:22332432C>T	uc001yuc.1	+	3	239	c.-742C>T	c.(-744--740)AACGT>AATGT		LOC727924_uc001ytz.1_Intron|LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AAGATTCTAACGTGACAGAAC	0.328			NA											11	57					0	0	0.00136819	0	0
UBR1	197131	broad.mit.edu	37	15	43398195	43398195	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr15:43398195G>T	uc001zqq.2	-	1	92	c.26C>A	c.(25-27)ACT>AAT	p.T9N	UBR1_uc010udk.1_Missense_Mutation_p.T9N	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	9					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CATCCTCTCAGTACCTCCAGC	0.612			NA											10	5					1.58986e-06	6.74809e-06	0.000673444	1	0
CEP152	22995	broad.mit.edu	37	15	49089914	49089914	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr15:49089914C>T	uc001zwy.2	-	4	239	c.205G>A	c.(205-207)GAG>AAG	p.E69K	CEP152_uc001zwz.2_Missense_Mutation_p.E69K|CEP152_uc001zxa.1_Missense_Mutation_p.E69K	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	69					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCCAATTGCTCAGGATGATGT	0.388			NA											8	83					0	0	0.000274275	0	0
AGBL1	123624	broad.mit.edu	37	15	86687016	86687016	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr15:86687016C>T	uc002blz.1	+	2	144	c.64C>T	c.(64-66)CCT>TCT	p.P22S		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	22					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GAGGACAGCTCCTCCAGACTA	0.547			NA											20	49					0	0	0.00121646	0	0
SPSB3	90864	broad.mit.edu	37	16	1828259	1828259	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr16:1828259C>T	uc002cmr.2	-	3	401	c.368G>A	c.(367-369)CGT>CAT	p.R123H	SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Missense_Mutation_p.R123H|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_3'UTR	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	123	B30.2/SPRY.				intracellular signal transduction						0						GCTGACCTTACGGTTGTCACA	0.597			NA											6	32					0	0	0.00198382	0	0
SMG1	23049	broad.mit.edu	37	16	18896929	18896929	+	Silent	SNP	A	A	G	rs140363576	by1000genomes	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr16:18896929A>G	uc002dfm.2	-	7	1245	c.882T>C	c.(880-882)TGT>TGC	p.C294C	SMG1_uc010bwb.2_Silent_p.C154C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	294	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TAACACATTTACAAAGCAATT	0.373			NA											3	117					0	0	0.00024832	0	0
ACSM1	116285	broad.mit.edu	37	16	20702350	20702350	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr16:20702350T>A	uc002dhm.1	-	1	229	c.161A>T	c.(160-162)TAT>TTT	p.Y54F	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.Y54F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	54					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2						GTCCAGTACATAACTTGCAAA	0.478			NA											14	116					0	0	0.00244969	0	0
CHD9	80205	broad.mit.edu	37	16	53191330	53191330	+	Silent	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr16:53191330T>C	uc002ehb.2	+	1	1493	c.1329T>C	c.(1327-1329)CAT>CAC	p.H443H	CHD9_uc002egy.2_Silent_p.H443H|CHD9_uc002egz.1_Silent_p.H443H|CHD9_uc002eha.1_Silent_p.H443H|CHD9_uc002ehc.2_Silent_p.H443H	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	443					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TTACTTCGCATCTGGTAACAC	0.423			NA											8	49					0	0	0.000978159	0	0
CLEC3A	10143	broad.mit.edu	37	16	78062031	78062031	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr16:78062031T>C	uc002ffh.3	+	2	224	c.143T>C	c.(142-144)ATT>ACT	p.I48T		NM_005752	NP_005743	O75596	CLC3A_HUMAN	C-type lectin domain family 3 member A	48					skeletal system development	extracellular region	sugar binding				0						AAGACTCAAATTGAAAAGCTC	0.448			NA											16	80					0	0	0.000566183	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:7579358C>A	uc002gim.2	-	4	523	c.329G>T	c.(328-330)CGT>CTT	p.R110L	TP53_uc002gig.1_Missense_Mutation_p.R110L|TP53_uc002gih.2_Missense_Mutation_p.R110L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.R110L|TP53_uc010cni.1_Missense_Mutation_p.R110L|TP53_uc002gij.2_Missense_Mutation_p.R110L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.R71L|TP53_uc010cnk.1_Missense_Mutation_p.R125L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	110	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		R -> G (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching 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.R110L(24)|p.R110P(8)|p.0?(7)|p.R110fs*13(5)|p.R110C(4)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GAAGCCCAGACGGAAACCGTA	0.612	Pancreas(47;798 1329 9957 10801)		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-Fraumensyndrome|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)			52	17					6.3008e-33	2.8428e-32	0.00361006	1	0
MYH4	4622	broad.mit.edu	37	17	10366250	10366250	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:10366250C>T	uc002gmn.2	-	11	1051	c.940G>A	c.(940-942)GCA>ACA	p.A314T	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	314	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CTGACAAATGCGAAGTCATAT	0.403			NA											22	41					0	0	0.000720815	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612212	16612212	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:16612212G>A	uc002gqk.1	+	5	917	c.841G>A	c.(841-843)GAA>AAA	p.E281K	CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	281											0						AATGTGGATTGAACAAGGCAA	0.358			NA											30	39					0	0	0.00428921	0	0
SUPT6H	6830	broad.mit.edu	37	17	27016420	27016420	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:27016420G>C	uc002hby.2	+	25	3273	c.3183G>C	c.(3181-3183)GAG>GAC	p.E1061D	SUPT6H_uc010crt.2_Missense_Mutation_p.E1061D|SUPT6H_uc002hbz.1_5'UTR	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1061					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					TCCACCCTGAGACTTATGAGT	0.468			NA											23	71					0	0	0.00332997	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261822	39261822	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:39261822A>C	uc010wfp.1	+	1	182	c.182A>C	c.(181-183)CAA>CCA	p.Q61P		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	61	8.|29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament					0						GTGTGCTGCCAACCCACTTGT	0.647			NA											4	118					0	0	0.00024832	0	0
DHX40P1	653645	broad.mit.edu	37	17	58075543	58075543	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:58075543T>C	uc002iyf.2	-	7	535	c.300A>G	c.(298-300)ATA>ATG	p.I100M		NR_002924				Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 pseudogene, mRNA (cDNA clone IMAGE:5170263).												0						TATTGGTGGATATGACACATT	0.338			NA											34	23					0	0	0.00128727	0	0
CSH2	1443	broad.mit.edu	37	17	61950686	61950686	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:61950686G>A	uc002jch.2	-	2	139	c.24C>T	c.(22-24)TCC>TCT	p.S8S	CSH2_uc002jcg.2_Silent_p.S8S|CSH2_uc002jci.2_Silent_p.S8S|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Silent_p.S8S	NM_020991	NP_066271	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2 isoform 1	8					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding				0						CCAGGAGCAGGGACGTCCGGG	0.607			NA											27	49					0	0	0.00428921	0	0
GH1	2688	broad.mit.edu	37	17	61994726	61994726	+	Silent	SNP	G	G	A	rs142704768	byFrequency	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:61994726G>A	uc002jdj.2	-	5	659	c.597C>T	c.(595-597)GTC>GTT	p.V199V	GH1_uc002jdi.2_Silent_p.V184V|GH1_uc002jdk.2_Silent_p.V159V|GH1_uc002jdl.2_Silent_p.V104V|GH1_uc002jdm.2_3'UTR|GH1_uc002jdn.2_Missense_Mutation_p.S153L	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	199					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding				0						GGAATGTCTCGACCTTGTCCA	0.582			NA											16	53					0	0	0.000566183	0	0
DNAI2	64446	broad.mit.edu	37	17	72287186	72287186	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:72287186T>A	uc002jkf.2	+	6	737	c.638T>A	c.(637-639)CTG>CAG	p.L213Q	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	213					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						GAACTTGCTCTGAAGCCATCG	0.498			NA							Kartagener_syndrome				88	465					0	0	0.00361006	0	0
SETBP1	26040	broad.mit.edu	37	18	42531615	42531615	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr18:42531615G>A	uc010dni.2	+	4	2606	c.2310G>A	c.(2308-2310)GCG>GCA	p.A770A		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	770						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACTTGTGGCGTCTTCACCAG	0.527			NA							Schinzel-Giedion_syndrome				17	53					0	0	0.00400662	0	0
MBD2	8932	broad.mit.edu	37	18	51715381	51715381	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr18:51715381C>G	uc002lfg.1	-	3	932	c.703G>C	c.(703-705)GGT>CGT	p.G235R		NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	235					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TCTGGTTTACCCTGTGaatat	0.264			NA											6	112					0	0	0.00116845	0	0
FBN3	84467	broad.mit.edu	37	19	8130962	8130962	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr19:8130962G>A	uc002mjf.2	-	63	8292	c.8271C>T	c.(8269-8271)GGC>GGT	p.G2757G	FBN3_uc002mje.2_Silent_p.G553G	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2757						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGGAGCTGACGCCACGGAGGT	0.682			NA											10	100					0	0	0.00185496	0	0
UNC13A	23025	broad.mit.edu	37	19	17756535	17756535	+	Silent	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr19:17756535C>G	uc002nhd.2	-	19	2568	c.2568G>C	c.(2566-2568)ACG>ACC	p.T856T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	768	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						CCTCAATGATCGTCTGCCCCA	0.597			NA											5	52					0	0	0.00116845	0	0
ZFP36	7538	broad.mit.edu	37	19	39899162	39899162	+	Silent	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr19:39899162G>C	uc002olh.1	+	2	862	c.804G>C	c.(802-804)CTG>CTC	p.L268L	ZFP36_uc010egn.1_Missense_Mutation_p.W141S	NM_003407	NP_003398	P26651	TTP_HUMAN	zinc finger protein 36, C3H type, homolog	268					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			pancreas(1)	1	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGGTGGCCTGGTTCGGACCC	0.677	NSCLC(67;1164 1324 12056 21056 30097)		NA											6	54					0	0	0.00116845	0	0
CPT1C	126129	broad.mit.edu	37	19	50208490	50208490	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr19:50208490G>A	uc002ppj.2	+	9	1104	c.899G>A	c.(898-900)CGC>CAC	p.R300H	CPT1C_uc002ppl.3_Missense_Mutation_p.R266H|CPT1C_uc002ppi.2_Missense_Mutation_p.R217H|CPT1C_uc002ppk.2_Missense_Mutation_p.R289H|CPT1C_uc010eng.2_Missense_Mutation_p.R300H|CPT1C_uc010enh.2_Missense_Mutation_p.R300H|CPT1C_uc010ybc.1_Missense_Mutation_p.R171H|CPT1C_uc010eni.1_5'Flank	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	300	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATGGGAATGCGCCCCTTATGC	0.577			NA											17	128					0	0	0.00074312	0	0
ZNF835	90485	broad.mit.edu	37	19	57176150	57176150	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr19:57176150C>T	uc010ygo.1	-	2	483	c.483G>A	c.(481-483)GCG>GCA	p.A161A	ZNF835_uc010ygn.1_Silent_p.A139A	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						ACTCGGGGCACGCAAATGGCT	0.632			NA											38	73					0	0	0.00428921	0	0
MAP4K3	8491	broad.mit.edu	37	2	39514010	39514010	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr2:39514010C>G	uc002rro.2	-	21	1661	c.1570G>C	c.(1570-1572)GAA>CAA	p.E524Q	MAP4K3_uc002rrp.2_Missense_Mutation_p.E503Q|MAP4K3_uc010yns.1_Missense_Mutation_p.E77Q	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	524					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				TCTTTCTTTTCTTTTCTTGAA	0.338			NA											15	54					0	0	0.00316338	0	0
C2orf86	51057	broad.mit.edu	37	2	63712095	63712095	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr2:63712095T>C	uc002sch.2	-	5	726	c.280A>G	c.(280-282)AAC>GAC	p.N94D	C2orf86_uc002sci.1_Missense_Mutation_p.N70D|C2orf86_uc010fcr.1_5'Flank	NM_015910	NP_056994	O95876	FRITZ_HUMAN	hypothetical protein LOC51057 isoform 2	94					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane					0						GGGCGTCTGTTTTTGAGCGTC	0.363			NA											5	82					0	0	0.00116845	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360161	72360161	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr2:72360161G>A	uc002sih.1	-	5	1137	c.1137C>T	c.(1135-1137)TTC>TTT	p.F379F	CYP26B1_uc010yra.1_Silent_p.F362F|CYP26B1_uc010yrb.1_Silent_p.F304F	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	379					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2						CATCAAGCTCGAAGGTCTGCA	0.662			NA											11	36					0	0	0.000673444	0	0
STEAP3	55240	broad.mit.edu	37	2	120003328	120003328	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr2:120003328G>C	uc002tlp.2	+	3	413	c.256G>C	c.(256-258)GTC>CTC	p.V86L	STEAP3_uc002tlq.2_Missense_Mutation_p.V96L|STEAP3_uc002tlr.2_Missense_Mutation_p.V86L|STEAP3_uc010fle.2_Missense_Mutation_p.V86L	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	86	Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						CTCCCCGGAGGTCATCTTTGT	0.592			NA											12	28					0	0	0.00136819	0	0
SCRT2	85508	broad.mit.edu	37	20	644541	644541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr20:644541G>T	uc002wec.2	-	2	1276	c.698C>A	c.(697-699)TCG>TAG	p.S233*	SRXN1_uc002web.2_Intron	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN	scratch 2 protein	233	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCGGTGTGCGAGCGCATGTG	0.692			NA											20	9					7.41877e-09	3.17236e-08	0.00188189	1	0
RSPH1	89765	broad.mit.edu	37	21	43896056	43896056	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr21:43896056C>A	uc002zbg.2	-	8	934	c.829G>T	c.(829-831)GAG>TAG	p.E277*		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	277					meiosis	cytosol|nucleus				ovary(1)	1						TCCCGGCTCTCTTCCCGGAGG	0.642	Esophageal Squamous(23;63 706 6286 10288 12913)		NA											11	100					6.40141e-05	0.000267738	0.000978159	1	0
CRYBA4	1413	broad.mit.edu	37	22	27021529	27021529	+	Silent	SNP	C	C	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr22:27021529C>A	uc003acz.3	+	4	278	c.243C>A	c.(241-243)GGC>GGA	p.G81G		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	81	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						ATGCCTGGGGCGGCAACACGG	0.632			NA											8	288					0.000157383	0.000653483	0.00307968	1	0
DEPDC5	9681	broad.mit.edu	37	22	32234733	32234733	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr22:32234733G>A	uc003als.2	+	27	2532	c.2390G>A	c.(2389-2391)CGT>CAT	p.R797H	DEPDC5_uc011als.1_Missense_Mutation_p.R728H|DEPDC5_uc011alu.1_Missense_Mutation_p.R806H|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R797H|DEPDC5_uc003alu.2_Missense_Mutation_p.R246H|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.R127H|DEPDC5_uc003alw.2_Missense_Mutation_p.R95H|DEPDC5_uc011alx.1_Intron	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	797					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						ATTTGCCAACGTCTCATGCAG	0.517			NA											15	539					0	0	0.00400662	0	0
ENTHD1	150350	broad.mit.edu	37	22	40217072	40217072	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr22:40217072G>T	uc003ayg.2	-	5	1009	c.758C>A	c.(757-759)GCA>GAA	p.A253E		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	253										ovary(2)|skin(1)	3	Melanoma(58;0.0749)					AGGAGGTGTTGCTAGTAAAGG	0.393			NA											19	50					1.87028e-06	7.87994e-06	0.00188189	1	0
PHF21B	112885	broad.mit.edu	37	22	45283868	45283868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr22:45283868C>T	uc003bfn.2	-	10	1323	c.1172G>A	c.(1171-1173)TGG>TAG	p.W391*	PHF21B_uc003bfm.2_Nonsense_Mutation_p.W187*|PHF21B_uc011aqk.1_Nonsense_Mutation_p.W337*|PHF21B_uc011aql.1_Nonsense_Mutation_p.W349*|PHF21B_uc011aqm.1_3'UTR	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	391	PHD-type.						zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGGGCACACCCACACGCCCTT	0.697			NA											5	16					0	0	0.00198382	0	0
KCNH8	131096	broad.mit.edu	37	3	19436748	19436748	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:19436748G>C	uc003cbk.1	+	7	1317	c.1122G>C	c.(1120-1122)TGG>TGC	p.W374C	KCNH8_uc011awe.1_Missense_Mutation_p.W374C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Missense_Mutation_p.W5C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	374	Helical; Name=Segment S5; (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CGTGTATCTGGTACGTCATTG	0.433	NSCLC(124;1625 1765 8018 24930 42026)		NA											39	63					0	0	0.0025221	0	0
ULK4	54986	broad.mit.edu	37	3	41795941	41795941	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:41795941A>C	uc003ckv.3	-	22	2434	c.2233T>G	c.(2233-2235)TCA>GCA	p.S745A		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	745							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATGCATGTTGAGGGGCTGTCA	0.368			NA											7	82					0	0	0.00307968	0	0
PVRL3	25945	broad.mit.edu	37	3	110845158	110845158	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:110845158G>C	uc003dxt.1	+	5	1045	c.1045G>C	c.(1045-1047)GAC>CAC	p.D349H	PVRL3_uc003dxu.1_Missense_Mutation_p.D326H	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	349	Extracellular (Potential).|Ig-like C2-type 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						TCAAAGAAGTGACCAAAAAGT	0.318			NA											10	48					0	0	0.000978159	0	0
KALRN	8997	broad.mit.edu	37	3	123983428	123983428	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:123983428C>T	uc003ehg.2	+	4	468	c.341C>T	c.(340-342)ACG>ATG	p.T114M	KALRN_uc010hrv.1_Missense_Mutation_p.T114M|KALRN_uc003ehf.1_Missense_Mutation_p.T114M|KALRN_uc011bjy.1_Missense_Mutation_p.T114M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	114	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CTCCTCAAAACGCTGCAGGAA	0.537			NA											25	24					0	0	0.00395357	0	0
SLC41A3	54946	broad.mit.edu	37	3	125786931	125786931	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:125786931C>G	uc003eij.2	-	2	358	c.132G>C	c.(130-132)GAG>GAC	p.E44D	SLC41A3_uc003eil.2_Missense_Mutation_p.E44D|SLC41A3_uc003eik.2_Missense_Mutation_p.E44D|SLC41A3_uc011bkh.1_Intron|SLC41A3_uc010hsd.1_Missense_Mutation_p.E44D	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	44						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)		CGCTTTGGCTCTCAGGGGCCC	0.627			NA											9	124					0	0	0.000442599	0	0
SGEF	26084	broad.mit.edu	37	3	153905608	153905608	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:153905608G>A	uc011bog.1	+	7	1833	c.1622G>A	c.(1621-1623)CGA>CAA	p.R541Q	SGEF_uc011boh.1_Missense_Mutation_p.R541Q	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	541	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TACCAACAACGAACACTACAA	0.323			NA											10	9					0	0	0.000978159	0	0
HTR3D	200909	broad.mit.edu	37	3	183756208	183756208	+	Missense_Mutation	SNP	G	G	A	rs113942045		TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:183756208G>A	uc011bqv.1	+	7	931	c.931G>A	c.(931-933)GCC>ACC	p.A311T	HTR3D_uc003fmj.2_Missense_Mutation_p.A136T|HTR3D_uc011bqu.1_Missense_Mutation_p.A261T|HTR3D_uc010hxp.2_Missense_Mutation_p.A90T	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine receptor 3 subunit D isoform	311	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity				0	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGTCTACTTCGCCCTGTGCCT	0.592			NA											34	38					0	0	0.00283554	0	0
SDHAP1	255812	broad.mit.edu	37	3	195692311	195692311	+	Missense_Mutation	SNP	T	T	C	rs62282793	by1000genomes	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:195692311T>C	uc003fvy.2	-	3	346	c.232A>G	c.(232-234)AGC>GGC	p.S78G	SDHAP1_uc003fvx.3_RNA					Homo sapiens full length insert cDNA clone ZC24D06.												0						TTCCCAGTGCTGACGTCCACA	0.607	Ovarian(67;1158 1227 12109 20189 43170)		NA											4	11					0	0	0.000602214	0	0
SDHAP1	255812	broad.mit.edu	37	3	195692347	195692347	+	Missense_Mutation	SNP	G	G	A	rs62282794	by1000genomes	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:195692347G>A	uc003fvy.2	-	3	310	c.196C>T	c.(196-198)CAC>TAC	p.H66Y	SDHAP1_uc003fvx.3_RNA					Homo sapiens full length insert cDNA clone ZC24D06.												0						TTCCTCCAGTGCTCCTCAAAG	0.572	Ovarian(67;1158 1227 12109 20189 43170)		NA											7	15					0	0	0.000978159	0	0
SLIT2	9353	broad.mit.edu	37	4	20530615	20530615	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr4:20530615G>A	uc003gpr.1	+	16	1710	c.1506G>A	c.(1504-1506)GCG>GCA	p.A502A	SLIT2_uc003gps.1_Silent_p.A494A	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	502	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						ACTGCTTTGCGGATCTGGCTT	0.393			NA											5	141					0	0	0.000602214	0	0
GABRA2	2555	broad.mit.edu	37	4	46334683	46334683	+	Silent	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr4:46334683G>C	uc003gxc.3	-	3	877	c.204C>G	c.(202-204)GTC>GTG	p.V68V	GABRA2_uc010igc.2_Silent_p.V68V|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Silent_p.V68V	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	68	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTAGTGAAGACTTCAGTAA	0.358			NA											26	82					0	0	0.00395357	0	0
C4orf7	260436	broad.mit.edu	37	4	71099895	71099895	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr4:71099895C>T	uc003hfd.2	+	4	334	c.249C>T	c.(247-249)AGC>AGT	p.S83S		NM_152997	NP_694542	Q8NFU4	FDSCP_HUMAN	chromosome 4 open reading frame 7 precursor	83						extracellular region				central_nervous_system(1)	1						CCCTTCCTAGCGAAAAGTAAA	0.373			NA											16	42					0	0	0.00316338	0	0
INTU	27152	broad.mit.edu	37	4	128565010	128565010	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr4:128565010G>T	uc003ifk.1	+	2	551	c.481G>T	c.(481-483)GTG>TTG	p.V161L	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	161										ovary(1)	1						ATACAAAGATGTGAATGTTTA	0.393			NA											49	42					9.52127e-25	4.26225e-24	0.00361006	1	0
PCDHB9	56127	broad.mit.edu	37	5	140568073	140568073	+	Silent	SNP	A	A	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr5:140568073A>G	uc003liw.1	+	3	1182	c.1182A>G	c.(1180-1182)AAA>AAG	p.K394K		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	394	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTTCTGAAACCGTCTGTTG	0.413			NA											3	89					0	0	6.4e-05	0	0
DOCK2	1794	broad.mit.edu	37	5	169472907	169472907	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr5:169472907C>T	uc003maf.2	+	39	4044	c.3964C>T	c.(3964-3966)CTG>TTG	p.L1322L	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.L814L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1322	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCCAGAACCTGGTAAGGCA	0.592			NA											4	89					0	0	0.000602214	0	0
ZNF311	282890	broad.mit.edu	37	6	28963438	28963438	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr6:28963438C>A	uc003nlu.2	-	7	1854	c.1341G>T	c.(1339-1341)CAG>CAT	p.Q447H	ZNF311_uc011dlk.1_Missense_Mutation_p.Q355H|ZNF311_uc003nlv.2_Missense_Mutation_p.Q355H	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	447	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						CTTTTCCACACTGGGGACACC	0.493			NA											8	170					5.4927e-09	2.36641e-08	0.000274275	1	0
OR12D2	26529	broad.mit.edu	37	6	29365367	29365367	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr6:29365367G>A	uc003nmf.3	+	1	952	c.891G>A	c.(889-891)AAG>AAA	p.K297K		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGGAAGTGAAGGGGGCCTTGG	0.433			NA											5	124					0	0	0.00116845	0	0
STK38	11329	broad.mit.edu	37	6	36507865	36507865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr6:36507865C>A	uc003omg.2	-	1	703	c.115G>T	c.(115-117)GAA>TAA	p.E39*	STK38_uc003omh.2_Nonsense_Mutation_p.E39*|STK38_uc003omi.2_Nonsense_Mutation_p.E39*	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	39					intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						TCTCGTTCTTCATGTTGAGCG	0.378	Colon(180;997 3561 16158)		NA											19	270					1.10513e-12	4.8339e-12	0.00229938	1	0
SHPRH	257218	broad.mit.edu	37	6	146262927	146262927	+	Silent	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr6:146262927T>C	uc003qlf.2	-	10	2721	c.2322A>G	c.(2320-2322)GTA>GTG	p.V774V	SHPRH_uc003qld.2_Silent_p.V774V|SHPRH_uc003qle.2_Silent_p.V774V|SHPRH_uc003qlg.1_Silent_p.V330V|SHPRH_uc003qlj.1_Silent_p.V663V	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	774	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGAACGCAGTACATCATAGG	0.413			NA											46	46					0	0	0.00321405	0	0
AIMP2	7965	broad.mit.edu	37	7	6063250	6063250	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:6063250C>T	uc003spo.2	+	4	1004	c.891C>T	c.(889-891)GCC>GCT	p.A297A	EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	297	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						CAGTGCCAGCCAATGTGCAGA	0.522			NA											33	83					0	0	0.00327116	0	0
NPC1L1	29881	broad.mit.edu	37	7	44553240	44553240	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:44553240C>T	uc003tlb.2	-	20	3942	c.3886G>A	c.(3886-3888)GTT>ATT	p.V1296I	NPC1L1_uc003tlc.2_Missense_Mutation_p.V1269I|NPC1L1_uc011kbw.1_Missense_Mutation_p.V1223I|NPC1L1_uc003tla.2_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1296	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	GCCGGGTTAACGTCAGGCCCT	0.612			NA											46	53					0	0	0.00361006	0	0
EGFR	1956	broad.mit.edu	37	7	55259524	55259524	+	Missense_Mutation	SNP	T	T	A	rs121913444		TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:55259524T>A	uc003tqk.2	+	21	2828	c.2582T>A	c.(2581-2583)CTG>CAG	p.L861Q	EGFR_uc010kzg.1_Missense_Mutation_p.L816Q|EGFR_uc011kco.1_Missense_Mutation_p.L808Q|uc003tqo.2_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	861	Cytoplasmic (Potential).|Protein kinase.		L -> Q (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L861Q(96)|p.L861R(10)|p.A859_L883>V(2)|p.L861F(1)|p.L861V(1)|p.L861P(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTGGCCAAACTGCTGGGTGCG	0.557			8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			871	40					0	0	0.00361006	0	0
EPHB4	2050	broad.mit.edu	37	7	100403236	100403236	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:100403236G>A	uc003uwn.1	-	15	3056	c.2565C>T	c.(2563-2565)GAC>GAT	p.D855D	EPHB4_uc003uwm.1_Silent_p.D762D|EPHB4_uc010lhj.1_Silent_p.D855D	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	855	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCTGCCAACAGTCCAGCATGA	0.632	GBM(200;2113 3072 25865 52728)		NA											9	219					0	0	0.000442599	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106797681	106797681	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:106797681G>A	uc003vdx.2	+	10	1210	c.1035G>A	c.(1033-1035)TCG>TCA	p.S345S		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	345	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1						CTCGATGCTCGCGGGGACAGT	0.458			NA											38	42					0	0	0.00195071	0	0
SLC26A4	5172	broad.mit.edu	37	7	107335138	107335138	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:107335138T>C	uc003vep.2	+	12	1638	c.1414T>C	c.(1414-1416)TGG>CGG	p.W472R	SLC26A4_uc011kmb.1_Missense_Mutation_p.W59R|SLC26A4_uc011kmc.1_Missense_Mutation_p.W33R|SLC26A4_uc011kmd.1_Missense_Mutation_p.W41R	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	472	Extracellular (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						TCCTCGTCTGTGGAGACAGAA	0.428			NA							Pendred_syndrome				5	102					0	0	0.00198382	0	0
MET	4233	broad.mit.edu	37	7	116340099	116340099	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:116340099T>C	uc003vij.2	+	2	1148	c.961T>C	c.(961-963)TAT>CAT	p.Y321H	MET_uc010lkh.2_Missense_Mutation_p.Y321H|MET_uc011knc.1_Missense_Mutation_p.Y321H|MET_uc011knd.1_Missense_Mutation_p.Y321H|MET_uc011kne.1_Missense_Mutation_p.Y321H|MET_uc011knf.1_Missense_Mutation_p.Y321H|MET_uc011kng.1_Missense_Mutation_p.Y321H|MET_uc011knh.1_Missense_Mutation_p.Y321H|MET_uc011kni.1_Missense_Mutation_p.Y321H|MET_uc003vii.1_Missense_Mutation_p.Y340H|MET_uc010lkg.2_Missense_Mutation_p.Y321H|MET_uc011kmz.1_Missense_Mutation_p.Y321H|MET_uc011kna.1_Missense_Mutation_p.Y321H|MET_uc011knb.1_Missense_Mutation_p.Y321H	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	321	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCAGGCTGCGTATGTCAGCAA	0.453			NA	Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				3	94					0	0	6.4e-05	0	0
FAM3C	10447	broad.mit.edu	37	7	120990539	120990539	+	Silent	SNP	T	T	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:120990539T>A	uc003vjx.2	-	10	908	c.660A>T	c.(658-660)GGA>GGT	p.G220G	FAM3C_uc010lkm.2_Silent_p.G220G	NM_014888	NP_055703	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	220					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity				0	all_neural(327;0.117)					GGGGGATGCATCCTTCCATTT	0.368			NA											80	88					0	0	0.00361006	0	0
SMARCD3	6604	broad.mit.edu	37	7	150936506	150936506	+	Silent	SNP	G	G	A	rs139287814		TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:150936506G>A	uc003wjs.2	-	12	1475	c.1374C>T	c.(1372-1374)GCC>GCT	p.A458A	SMARCD3_uc003wjt.2_Silent_p.A445A|SMARCD3_uc003wju.2_Silent_p.A445A	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	458					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCGACTGACGGCCTCCTGGG	0.612			NA											27	48					0	0	0.001512	0	0
RP1L1	94137	broad.mit.edu	37	8	10468680	10468680	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:10468680C>T	uc003wtc.2	-	4	3157	c.2928G>A	c.(2926-2928)GCG>GCA	p.A976A		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	976					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TGGTCTCGTCCGCCAACTCAT	0.632			NA											27	12					0	0	0.00106085	0	0
PENK	5179	broad.mit.edu	37	8	57353979	57353979	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:57353979C>T	uc003xsz.2	-	2	737	c.656G>A	c.(655-657)CGC>CAC	p.R219H	PENK_uc003xta.3_Missense_Mutation_p.R219H	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	219					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCACTCTGGGCGACCTACTCT	0.532			NA											10	169					0	0	0.000442599	0	0
C8orf34	116328	broad.mit.edu	37	8	69434041	69434041	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:69434041T>G	uc010lyz.2	+	6	564	c.515T>G	c.(514-516)GTG>GGG	p.V172G	C8orf34_uc010lyy.1_Missense_Mutation_p.V172G|C8orf34_uc003xyb.2_Missense_Mutation_p.V147G	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	172					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGGAAACAGTGACATTTAAT	0.398			NA											8	13					0	0	0.00307968	0	0
CA2	760	broad.mit.edu	37	8	86392932	86392932	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:86392932G>T	uc003ydk.2	+	7	877	c.697G>T	c.(697-699)GAG>TAG	p.E233*		NM_000067	NP_000058	P00918	CAH2_HUMAN	carbonic anhydrase II	233					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(1)	1					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CTTCAATGGGGAGGGTGAACC	0.393			NA											28	119					1.17739e-12	5.11096e-12	0.000878237	1	0
CCNE2	9134	broad.mit.edu	37	8	95895049	95895049	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:95895049C>G	uc003yhc.2	-	10	1012	c.903G>C	c.(901-903)TTG>TTC	p.L301F	CCNE2_uc003yhd.2_Missense_Mutation_p.L301F	NM_057749	NP_477097	O96020	CCNE2_HUMAN	cyclin E2	301					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)					TAAAATGGCACAAGGCAGCAG	0.383			NA											42	197					0	0	0.00285205	0	0
C8orf47	203111	broad.mit.edu	37	8	99101611	99101611	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:99101611G>A	uc003yih.1	+	2	514	c.366G>A	c.(364-366)GAG>GAA	p.E122E		NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	hypothetical protein LOC203111	122											0	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GTGGCAAAGAGGATGCCCCAG	0.557			NA											11	147					0	0	0.000978159	0	0
WDR67	93594	broad.mit.edu	37	8	124156985	124156985	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:124156985G>A	uc003ypp.1	+	20	2954	c.2864G>A	c.(2863-2865)CGT>CAT	p.R955H	WDR67_uc011lig.1_Missense_Mutation_p.R859H|WDR67_uc011lih.1_Missense_Mutation_p.R845H|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R589H|WDR67_uc003ypt.1_Missense_Mutation_p.R347H|WDR67_uc003ypu.1_Missense_Mutation_p.R347H	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	955						centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAGAGTTCCGTTTGAGATCA	0.358			NA											54	24					0	0	0.00361006	0	0
FAM135B	51059	broad.mit.edu	37	8	139189617	139189617	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:139189617A>C	uc003yuy.2	-	11	1247	c.1076T>G	c.(1075-1077)CTT>CGT	p.L359R	FAM135B_uc003yux.2_Missense_Mutation_p.L260R|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	359										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGACTGCAAGTTTTTGGTG	0.418			NA								HNSCC(54;0.14)			4	76					0	0	0.00024832	0	0
EIF2C2	27161	broad.mit.edu	37	8	141559311	141559311	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:141559311C>G	uc003yvn.2	-	12	1530	c.1490G>C	c.(1489-1491)GGG>GCG	p.G497A	EIF2C2_uc010men.2_Missense_Mutation_p.G420A|EIF2C2_uc010meo.2_Missense_Mutation_p.G497A	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	497					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GCTGTCCGCCCCCTGCGCGTA	0.637			NA											6	71					0	0	0.00198382	0	0
OPLAH	26873	broad.mit.edu	37	8	145111554	145111554	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:145111554C>T	uc003zar.3	-	13	1893	c.1811G>A	c.(1810-1812)CGT>CAT	p.R604H	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	604							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GTCCCCCGCACGGGGCGAGCG	0.667			NA											6	58					0	0	0.00307968	0	0
WWC3	55841	broad.mit.edu	37	X	10062261	10062261	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chrX:10062261C>T	uc004csx.3	+	7	795	c.597C>T	c.(595-597)GGC>GGT	p.G199G	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	199										ovary(4)	4						GCGTGCCTGGCGATGCTGGTG	0.592			NA											7	107					0	0	0.00307968	0	0
ODZ1	10178	broad.mit.edu	37	X	123587298	123587298	+	Silent	SNP	C	C	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chrX:123587298C>A	uc004euj.2	-	22	4036	c.3972G>T	c.(3970-3972)GGG>GGT	p.G1324G	ODZ1_uc011muj.1_Silent_p.G1330G|ODZ1_uc010nqy.2_Silent_p.G1331G	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1324	NHL 2.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GAATCATAGTCCCATCCACAA	0.428			NA											15	43					2.62699e-14	1.1579e-13	0.00316338	1	0
RB1	5925	broad.mit.edu	37	13	48916758	48916758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr13:48916758delG	uc001vcb.2	+	3	454	c.288delG	c.(286-288)AAGfs	p.K96fs	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	96					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(4)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAAAGAAAAAGGAACTGTGGG	0.313			6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			161	22	---	---	---	---	NA	NA	NA	NA	NA
ATAD5	79915	broad.mit.edu	37	17	29162473	29162474	+	Frame_Shift_Ins	INS	-	-	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:29162473_29162474insC	uc002hfs.1	+	2	1720_1721	c.1374_1375insC	c.(1372-1377)AATGGCfs	p.N458fs	ATAD5_uc002hft.1_Frame_Shift_Ins_p.N355fs	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	458_459					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTCAAAAAATGGCAATTTACA	0.302			NA											30	76	---	---	---	---	NA	NA	NA	NA	NA
POMC	5443	broad.mit.edu	37	2	25384456	25384457	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs10654394	byFrequency	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr2:25384456_25384457insGCCGCTGCT	uc002rfy.1	-	4	560_561	c.297_298insAGCAGCGGC	c.(295-300)insAGCAGCGGC	p.99_100insSSG	POMC_uc002rfz.1_In_Frame_Ins_p.99_100insSSG|POMC_uc002rga.1_In_Frame_Ins_p.99_100insSSG	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	99_100					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TTCTGCCCTGCgccgctgctgc	0.624	Colon(110;1515 1566 8452 10082 43216)		NA											3	4	---	---	---	---	NA	NA	NA	NA	NA
MYH9	4627	broad.mit.edu	37	22	36708256	36708257	+	Frame_Shift_Ins	INS	-	-	G	rs145517108	byFrequency	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr22:36708256_36708257insG	uc003apg.2	-	14	1796_1797	c.1565_1566insC	c.(1564-1566)CCGfs	p.P522fs	MYH9_uc003aph.1_Frame_Shift_Ins_p.P386fs	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	522	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CCAGAATGCCCGGGGGGCCTGC	0.639			NA	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				14	200	---	---	---	---	NA	NA	NA	NA	NA
LPP	4026	broad.mit.edu	37	3	188124020	188124024	+	Frame_Shift_Del	DEL	ACACA	ACACA	-	rs149742671	byFrequency	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	ACACA	ACACA	-	-	ACACA	ACACA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:188124020_188124024delACACA	uc003frs.1	+	3	358_362	c.112_116delACACA	c.(112-117)ACACAAfs	p.T38fs	LPP_uc011bsg.1_Frame_Shift_Del_p.T38fs|LPP_uc011bsi.1_Frame_Shift_Del_p.T38fs|LPP_uc003frt.2_Frame_Shift_Del_p.T38fs	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	38_39					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTCAGTGTCTACACAACAGCCACCC	0.527			NA	T	HMGA2|MLL|C12orf9	lipoma|leukemia								28	151	---	---	---	---	NA	NA	NA	NA	NA
CHD7	55636	broad.mit.edu	37	8	61714143	61714143	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:61714143delA	uc003xue.2	+	6	2910	c.2433delA	c.(2431-2433)GTAfs	p.V811fs		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	811	Chromo 1.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTCGTTCAGTAAAAAAGCAGG	0.348			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
WDR67	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:124140520_124140521insT	uc003ypp.1	+	14	1975	c.1885_splice	c.e14-1	p.F629_splice	WDR67_uc011lig.1_Splice_Site_p.F629_splice|WDR67_uc011lih.1_Splice_Site_p.F519_splice|WDR67_uc003ypq.1_Splice_Site|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Splice_Site_p.F86_splice|WDR67_uc003ypu.1_Splice_Site_p.F86_splice	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1							centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTTCTTACAGTTTTTTTTTCA	0.322			NA											7	146	---	---	---	---	NA	NA	NA	NA	NA
COQ4	51117	broad.mit.edu	37	9	131094439	131094439	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr9:131094439delC	uc004bur.3	+	5	757	c.410delC	c.(409-411)TCCfs	p.S137fs	COQ4_uc004bus.2_Frame_Shift_Del_p.S113fs|COQ4_uc010mxy.2_Frame_Shift_Del_p.S113fs	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	coenzyme Q4 homolog precursor	137					ubiquinone biosynthetic process	mitochondrial inner membrane					0						CAGAGGGTCTCCCCAGACACC	0.587			NA											2	4	---	---	---	---	NA	NA	NA	NA	NA
