Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
KIF1B	23095	broad.mit.edu	37	1	10356659	10356659	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:10356659C>T	uc001aqx.3	+	20	1999	c.1797C>T	c.(1795-1797)CCC>CCT	p.P599P	KIF1B_uc001aqv.3_Silent_p.P553P|KIF1B_uc001aqw.3_Silent_p.P553P|KIF1B_uc001aqy.2_Silent_p.P573P|KIF1B_uc001aqz.2_Silent_p.P599P|KIF1B_uc001ara.2_Silent_p.P559P|KIF1B_uc001arb.2_Silent_p.P585P	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	599	FHA.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCTTAGAGCCCTGTGAGCGCT	0.443		NA											17	19					0	0	0	0
CLCN6	1185	broad.mit.edu	37	1	11893658	11893658	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:11893658G>A	uc001ate.3	+	14	1448	c.1335G>A	c.(1333-1335)CCG>CCA	p.P445P	CLCN6_uc010oat.1_Silent_p.P161P|CLCN6_uc010oau.1_Silent_p.P423P	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	445					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCAACCCGCAGGAGTCTG	0.493		NA											19	21					0	0	0	0
UBXN10	127733	broad.mit.edu	37	1	20517058	20517058	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:20517058G>A	uc001bdb.2	+	2	88	c.4G>A	c.(4-6)GCC>ACC	p.A2T		NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	2										ovary(1)	1						AGAAGCAATGGCCACAGAAGC	0.502		NA											41	73					0	0	0	0
NKAIN1	79570	broad.mit.edu	37	1	31655404	31655404	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:31655404T>G	uc010ogd.1	-	5	511	c.505A>C	c.(505-507)AAA>CAA	p.K169Q	NKAIN1_uc001bsn.2_Missense_Mutation_p.K125Q|NKAIN1_uc010ogc.1_Missense_Mutation_p.K98Q	NM_024522	NP_078798	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	169	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		AGGAACACTTTGCTCACGTAG	0.632		NA											19	52					0	0	0	0
GRIK3	2899	broad.mit.edu	37	1	37271729	37271729	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:37271729C>T	uc001caz.2	-	14	2425	c.2290G>A	c.(2290-2292)GGC>AGC	p.G764S	GRIK3_uc001cba.1_Missense_Mutation_p.G764S	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	764	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATGCCGTAGCCCTTGGAGTCA	0.667		NA											25	45					0	0	0	0
SPATA6	54558	broad.mit.edu	37	1	48869550	48869550	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:48869550T>C	uc001crr.1	-	6	575	c.410A>G	c.(409-411)AAT>AGT	p.N137S	SPATA6_uc001crs.1_Missense_Mutation_p.N137S|SPATA6_uc010omv.1_Missense_Mutation_p.N123S|SPATA6_uc001crt.2_Missense_Mutation_p.N29S	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6 precursor	137					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				ovary(1)	1						CCTTGGAGCATTTCCCTGAGA	0.313		NA											7	19					0	0	0	0
ELAVL4	1996	broad.mit.edu	37	1	50663122	50663122	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:50663122G>A	uc001csb.2	+	6	1024	c.756G>A	c.(754-756)ATG>ATA	p.M252I	ELAVL4_uc001cry.3_Missense_Mutation_p.M255I|ELAVL4_uc001crz.3_Missense_Mutation_p.M252I|ELAVL4_uc001csa.3_Missense_Mutation_p.M269I|ELAVL4_uc001csc.3_Missense_Mutation_p.M252I|ELAVL4_uc009vyu.2_Missense_Mutation_p.M257I|ELAVL4_uc010omz.1_Missense_Mutation_p.M257I	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	252					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						TGCTTAATATGGCCTATGGCG	0.403		NA											55	109					0	0	0	0
C1orf173	127254	broad.mit.edu	37	1	75038685	75038685	+	Silent	SNP	C	C	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:75038685C>A	uc001dgg.2	-	14	2928	c.2709G>T	c.(2707-2709)GTG>GTT	p.V903V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	903	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CATTTGCAAGCACTGCCTTCT	0.532		NA											78	171					1.07e-49	1.18e-49	1	0
WDR63	126820	broad.mit.edu	37	1	85555914	85555914	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:85555914A>T	uc001dkt.2	+	8	1047	c.856A>T	c.(856-858)AGT>TGT	p.S286C	WDR63_uc009wcl.2_Intron	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	286										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TGCATCCATAAGGTAAAAAAT	0.274		NA											20	21					0	0	0	0
KPRP	448834	broad.mit.edu	37	1	152732834	152732834	+	Missense_Mutation	SNP	C	C	T	rs147534038	byFrequency	TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:152732834C>T	uc001fal.1	+	2	828	c.770C>T	c.(769-771)CCT>CTT	p.P257L		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	257	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGCCTTCCTCCTCCTCGG	0.607		NA											32	44					0	0	0	0
C1orf125	126859	broad.mit.edu	37	1	179354444	179354444	+	Silent	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:179354444A>G	uc001gmo.2	+	9	940	c.813A>G	c.(811-813)CGA>CGG	p.R271R	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Silent_p.R59R|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Silent_p.R271R	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	271											0						AACTTATTCGACAAGTCAGTG	0.358		NA											57	24					0	0	0	0
KCTD3	51133	broad.mit.edu	37	1	215775237	215775237	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:215775237A>G	uc001hks.2	+	11	1256	c.962A>G	c.(961-963)TAT>TGT	p.Y321C	KCTD3_uc001hkt.2_Missense_Mutation_p.Y321C|KCTD3_uc010pub.1_Missense_Mutation_p.Y219C|KCTD3_uc009xdn.2_Missense_Mutation_p.Y73C	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	321	WD 3.					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATAACTAGTTATGACACTGCT	0.323		NA											17	31					0	0	0	0
OR1C1	26188	broad.mit.edu	37	1	247921166	247921166	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:247921166G>A	uc010pza.1	-	1	543	c.543C>T	c.(541-543)CTC>CTT	p.L181L		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGAGAGGATTGAGATCACAGA	0.478		NA											8	12					0	0	0	0
OLAH	55301	broad.mit.edu	37	10	15107610	15107610	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:15107610G>T	uc001inu.2	+	6	684	c.430G>T	c.(430-432)GAT>TAT	p.D144Y	ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.D197Y	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase isoform 2	144					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity				0						CATTCCCAAAGATGATGAATT	0.393		NA											23	33					2.49e-11	2.68e-11	1	0
GPR158	57512	broad.mit.edu	37	10	25886968	25886968	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:25886968G>A	uc001isj.2	+	11	2473	c.2413G>A	c.(2413-2415)GAG>AAG	p.E805K	GPR158_uc001isk.2_Missense_Mutation_p.E180K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	805	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						ATCCAAGGAGGAGACCCTGAA	0.542		NA											31	52					0	0	0	0
UROS	7390	broad.mit.edu	37	10	127496033	127496033	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:127496033C>T	uc001liw.3	-	5	476	c.343G>A	c.(343-345)GAA>AAA	p.E115K	UROS_uc001liv.3_5'UTR|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.E115K|UROS_uc001liy.3_RNA|UROS_uc001liz.2_RNA	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	115					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GTTTCTCCTTCTGTATCCAGG	0.353		NA											14	43					0	0	0	0
STK32C	282974	broad.mit.edu	37	10	134036234	134036234	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:134036234T>A	uc001lle.1	-	10	1302	c.1162A>T	c.(1162-1164)ATG>TTG	p.M388L	STK32C_uc001lld.1_Missense_Mutation_p.M271L|STK32C_uc010quu.1_Missense_Mutation_p.M401L|STK32C_uc001llb.2_Missense_Mutation_p.M159L|STK32C_uc001llc.1_RNA	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	388							ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|breast(1)	5		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCCAGGATCATCTCCTCCAGC	0.627		NA											7	6					0	0	0	0
PHRF1	57661	broad.mit.edu	37	11	611008	611008	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:611008A>T	uc001lqe.2	+	17	4863	c.4732A>T	c.(4732-4734)ATC>TTC	p.I1578F	PHRF1_uc010qwc.1_Missense_Mutation_p.I1577F|PHRF1_uc010qwd.1_Missense_Mutation_p.I1576F|PHRF1_uc010qwe.1_Missense_Mutation_p.I1574F|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1578	Potential.						RNA polymerase binding|zinc ion binding				0						GAAGCTGGCCATCAAGCCCTT	0.592		NA											9	17					0	0	0	0
IGF2	3481	broad.mit.edu	37	11	2154782	2154782	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:2154782C>T	uc009yde.2	-	3	374	c.271G>A	c.(271-273)GAG>AAG	p.E91K	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.E91K|IGF2_uc009ydf.2_Missense_Mutation_p.E147K|IGF2_uc001lvh.2_Missense_Mutation_p.E91K|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	91	D.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACGTCCCTCTCGGACTTGGCG	0.652		NA											15	15					0	0	0	0
OR8K3	219473	broad.mit.edu	37	11	56085986	56085986	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:56085986C>T	uc010rjf.1	+	1	204	c.204C>T	c.(202-204)TTC>TTT	p.F68F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					ATCTGGCTTTCATGGATCTTG	0.383		NA											43	87					0	0	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714808	65714808	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:65714808C>T	uc001ogk.1	+	5	544	c.512C>T	c.(511-513)GCG>GTG	p.A171V	TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	171											0						AACCTGAAGGCGAGACAGCAG	0.652		NA											5	14					0	0	0	0
CNTN5	53942	broad.mit.edu	37	11	100141898	100141898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:100141898C>T	uc001pga.2	+	18	2578	c.2239C>T	c.(2239-2241)CGA>TGA	p.R747*	CNTN5_uc001pfz.2_Nonsense_Mutation_p.R747*|CNTN5_uc001pgb.2_Nonsense_Mutation_p.R673*|CNTN5_uc010ruk.1_Nonsense_Mutation_p.R18*	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	747	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATATGAATTTCGAGTGGTAGC	0.458		NA											10	30					0	0	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123471189	123471189	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:123471189C>T	uc001pyx.2	+	7	883	c.554C>T	c.(553-555)TCG>TTG	p.S185L	GRAMD1B_uc001pyw.2_Missense_Mutation_p.S192L|GRAMD1B_uc010rzw.1_Missense_Mutation_p.S145L|GRAMD1B_uc010rzx.1_Missense_Mutation_p.S145L|GRAMD1B_uc009zbe.1_Missense_Mutation_p.S181L	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	185						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TTCTTCACTTCGTTTGGGGCC	0.408		NA											12	20					0	0	0	0
A2M	2	broad.mit.edu	37	12	9265043	9265043	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:9265043C>T	uc001qvk.1	-	3	473	c.360G>A	c.(358-360)GTG>GTA	p.V120V	A2M_uc009zgk.1_Intron	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	120					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TCTTAACCATCACTGTGGTCC	0.453		NA											15	22					0	0	0	0
SLC2A13	114134	broad.mit.edu	37	12	40158310	40158310	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:40158310G>A	uc010skm.1	-	9	1723	c.1672C>T	c.(1672-1674)CTG>TTG	p.L558L	C12orf40_uc009zjv.1_Intron	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	558	Helical; Name=11; (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				AGTGAAACCAGGACATTGAAA	0.328		NA								HNSCC(50;0.14)			26	63					0	0	0	0
LRRK2	120892	broad.mit.edu	37	12	40758787	40758787	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:40758787G>A	uc001rmg.3	+	49	7446	c.7325G>A	c.(7324-7326)CGT>CAT	p.R2442H	LRRK2_uc009zjw.2_Missense_Mutation_p.R1280H|LRRK2_uc001rmi.2_Missense_Mutation_p.R1275H	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2442					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTTCAACTCGTCGACTTATA	0.398		NA									OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	26	42					0	0	0	0
HOXC9	3225	broad.mit.edu	37	12	54396311	54396311	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:54396311C>T	uc001sep.2	+	3	734	c.636C>T	c.(634-636)CTC>CTT	p.L212L	HOXC9_uc001seq.2_Silent_p.L212L	NM_006897	NP_008828	P31274	HXC9_HUMAN	homeobox C9	212	Homeobox.				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)|skin(1)	3						AGGAGTTTCTCTTCAATATGT	0.547		NA											25	56					0	0	0	0
ERBB3	2065	broad.mit.edu	37	12	56495083	56495083	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:56495083C>T	uc001sjh.2	+	27	3633	c.3440C>T	c.(3439-3441)TCC>TTC	p.S1147F	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.S504F|ERBB3_uc010sqc.1_Missense_Mutation_p.S1088F|ERBB3_uc009zok.2_Missense_Mutation_p.S412F|ERBB3_uc001sjk.2_Missense_Mutation_p.S388F|ERBB3_uc001sjl.2_Missense_Mutation_p.S267F	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1147	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCCCACTCTCCCCACCCGGG	0.572		NA											22	35					0	0	0	0
AVPR1A	552	broad.mit.edu	37	12	63544545	63544545	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:63544545G>A	uc001sro.1	-	1	2046	c.72C>T	c.(70-72)GGC>GGT	p.G24G		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	24	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGTTGCCAGCGCCGGTGGCCA	0.711		NA											15	28					0	0	0	0
PPFIA2	8499	broad.mit.edu	37	12	81746976	81746976	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:81746976G>C	uc001szo.1	-	17	2077	c.1916C>G	c.(1915-1917)TCT>TGT	p.S639C	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	565										ovary(3)|lung(2)|pancreas(1)	6						ACCACTTGGAGAGAGAAGATC	0.408		NA											28	51					0	0	0	0
WSCD2	9671	broad.mit.edu	37	12	108604016	108604016	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:108604016G>A	uc001tms.2	+	4	1360	c.616G>A	c.(616-618)GTG>ATG	p.V206M	WSCD2_uc001tmt.2_Missense_Mutation_p.V206M	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	206	WSC 1.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						GCGAGGCAGCGTGTGCGGCGG	0.682		NA											7	10					0	0	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329719	88329719	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr13:88329719G>A	uc001vln.2	+	2	2295	c.2076G>A	c.(2074-2076)AGG>AGA	p.R692R	SLITRK5_uc010tic.1_Silent_p.R451R	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	692	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGAAGCGCAGGAAGAAGAACC	0.607		NA											6	47					0	0	0	0
MCF2L	23263	broad.mit.edu	37	13	113730378	113730378	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr13:113730378C>T	uc001vsu.2	+	12	1600	c.1578C>T	c.(1576-1578)ATC>ATT	p.I526I	MCF2L_uc001vsq.2_Silent_p.I526I|MCF2L_uc010tjr.1_Silent_p.I469I|MCF2L_uc001vsr.2_Silent_p.I473I|MCF2L_uc001vss.3_Silent_p.I467I|MCF2L_uc010tjs.1_Silent_p.I467I|MCF2L_uc001vst.1_Silent_p.I431I	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	499					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCAGGAAATCGAGAAGTTTT	0.522		NA											16	34					0	0	0	0
DHRS2	10202	broad.mit.edu	37	14	24114424	24114424	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:24114424G>A	uc001wkt.3	+	9	1263	c.816G>A	c.(814-816)GGG>GGA	p.G272G	DHRS2_uc001wku.3_Missense_Mutation_p.E269K|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.G270E	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1	Error:Variant_position_missing_in_Q13268_after_alignment					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	p.A272V(1)		large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)		CGTCAACGGGGAGAACATTGC	0.607		NA											46	68					0	0	0	0
AKAP6	9472	broad.mit.edu	37	14	33291093	33291093	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:33291093G>C	uc001wrq.2	+	13	4244	c.4074G>C	c.(4072-4074)CAG>CAC	p.Q1358H		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1358					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACATGAGCCAGAATTCAGGCA	0.458		NA											14	46					0	0	0	0
MDGA2	161357	broad.mit.edu	37	14	47601019	47601019	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:47601019G>T	uc001wwj.3	-	5	812	c.616C>A	c.(616-618)CTT>ATT	p.L206I	MDGA2_uc001wwi.3_5'UTR|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	206	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TGAGGTCGAAGATTCTTTAGT	0.323		NA											13	19					1.62e-10	1.74e-10	1	0
ENTPD5	957	broad.mit.edu	37	14	74440678	74440678	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:74440678G>C	uc010tuo.1	-	12	1099	c.788C>G	c.(787-789)ACT>AGT	p.T263S	ENTPD5_uc001xpi.2_Missense_Mutation_p.T263S	NM_001249	NP_001240	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	263					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTGCCCATCAGTCCCTGAAAG	0.512		NA											31	60					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	33927847	33927847	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr15:33927847A>G	uc001zhi.2	+	26	3278	c.3208A>G	c.(3208-3210)AAG>GAG	p.K1070E	RYR3_uc010bar.2_Missense_Mutation_p.K1070E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1070	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCATAGACAAGATCCGATT	0.473		NA											9	19					0	0	0	0
UNC13C	440279	broad.mit.edu	37	15	54527261	54527261	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr15:54527261G>A	uc002ack.2	+	4	3105	c.3105G>A	c.(3103-3105)ATG>ATA	p.M1035I		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1035					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGACAGCATGCCGGATCTTC	0.373		NA											10	27					0	0	0	0
CSPG4	1464	broad.mit.edu	37	15	75974679	75974679	+	Silent	SNP	C	C	T	rs145039359		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr15:75974679C>T	uc002baw.2	-	8	4998	c.4905G>A	c.(4903-4905)CAG>CAA	p.Q1635Q		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1635	Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11.				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						TGCTGTCCTGCTGGGCGTGGA	0.677		NA											27	54					0	0	0	0
KIAA0556	23247	broad.mit.edu	37	16	27761517	27761517	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr16:27761517A>G	uc002dow.2	+	16	3260	c.3236A>G	c.(3235-3237)AAT>AGT	p.N1079S		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1079										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						TGGAACTACAATAAATCTCGG	0.527		NA											28	48					0	0	0	0
CNTROB	116840	broad.mit.edu	37	17	7847852	7847852	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:7847852G>A	uc002gjq.2	+	13	2549	c.1630G>A	c.(1630-1632)GAG>AAG	p.E544K	CNTROB_uc002gjp.2_Missense_Mutation_p.E544K|CNTROB_uc002gjr.2_Missense_Mutation_p.E446K	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	544	Potential.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				GCAGCTGGAGGAGCAGCGGGT	0.622		NA											24	34					0	0	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215869	8215869	+	Missense_Mutation	SNP	C	C	A	rs147736312		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:8215869C>A	uc002glc.2	+	2	633	c.512C>A	c.(511-513)CCG>CAG	p.P171Q	ARHGEF15_uc002glb.1_Missense_Mutation_p.P171Q|ARHGEF15_uc002gld.2_Missense_Mutation_p.P171Q|ARHGEF15_uc010vuw.1_Missense_Mutation_p.P171Q	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	171					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GCAGATGCCCCGGAGCCAGGT	0.642		NA											20	44					6.21e-17	6.74e-17	1	0
MYH10	4628	broad.mit.edu	37	17	8411915	8411915	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:8411915G>A	uc002gll.2	-	24	3174	c.3078C>T	c.(3076-3078)GCC>GCT	p.A1026A	MYH10_uc002glm.2_Silent_p.A1057A|MYH10_uc010cnx.2_Silent_p.A1035A	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1026	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TCCTGATTTTGGCCAAGTTTT	0.413		NA											69	124					0	0	0	0
PIK3R6	146850	broad.mit.edu	37	17	8730512	8730512	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:8730512C>T	uc002glq.1	-	13	1732	c.1492G>A	c.(1492-1494)GCC>ACC	p.A498T	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	498					platelet activation	cytosol					0						TTGTGGATGGCGGGGCACAGC	0.662		NA											6	9					0	0	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43545614	43545614	+	Silent	SNP	T	T	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:43545614T>A	uc002ija.2	-	5	1439	c.1269A>T	c.(1267-1269)GGA>GGT	p.G423G	PLEKHM1_uc010wjm.1_Silent_p.G395G|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Silent_p.G372G	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	423					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					TCAGACCAGCTCCGTCATGAG	0.587		NA											4	18					0	0	0	0
OTOP2	92736	broad.mit.edu	37	17	72923778	72923778	+	Silent	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:72923778A>T	uc010wrp.1	+	6	617	c.528A>T	c.(526-528)ACA>ACT	p.T176T	OTOP2_uc002jmf.1_3'UTR	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	176						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					TCATGTTCACACTCACCACCA	0.582		NA											21	45					0	0	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995819	19995819	+	Silent	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr18:19995819T>C	uc002ktv.1	-	1	2060	c.1956A>G	c.(1954-1956)GAA>GAG	p.E652E		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	652						integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTGCTTCATTTTCAGCGGGGA	0.438		NA											70	164					0	0	0	0
MOCOS	55034	broad.mit.edu	37	18	33780032	33780032	+	Missense_Mutation	SNP	C	C	T	rs141623345		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr18:33780032C>T	uc002kzq.3	+	4	709	c.686C>T	c.(685-687)ACG>ATG	p.T229M		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	229					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	CCTGTGAGCACGCCTGGGAAG	0.567		NA											24	60					0	0	0	0
C19orf36	113177	broad.mit.edu	37	19	2097286	2097286	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:2097286T>G	uc002luw.1	+	2	330	c.253T>G	c.(253-255)TAC>GAC	p.Y85D	C19orf36_uc002lux.1_Missense_Mutation_p.Y85D|C19orf36_uc010xgw.1_Missense_Mutation_p.Y85D	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN	hypothetical protein LOC113177 isoform 3	85						extracellular region					0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAGCAGTGTACCAGATGAT	0.697		NA									OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	38					0	0	0	0
PEX11G	92960	broad.mit.edu	37	19	7543261	7543261	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:7543261A>G	uc002mgk.1	-	4	439	c.430T>C	c.(430-432)TCC>CCC	p.S144P	PEX11G_uc002mgl.1_Missense_Mutation_p.S74P	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	144	Helical; (Potential).					integral to membrane|peroxisomal membrane					0						ATCCACAGGGACCTGCAGCAC	0.672		NA											8	6					0	0	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302902	15302902	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:15302902C>G	uc002nan.2	-	4	624	c.548G>C	c.(547-549)TGC>TCC	p.C183S	NOTCH3_uc002nao.1_Missense_Mutation_p.C183S	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	183	Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).		C -> R (in CADASIL).|C -> S (in CADASIL).|C -> F (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGACACTGGCAGCGGAAGGA	0.672		NA											12	32					0	0	0	0
TMEM59L	25789	broad.mit.edu	37	19	18731326	18731326	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:18731326C>T	uc002njy.3	+	8	1096	c.1009C>T	c.(1009-1011)CTG>TTG	p.L337L		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	337						Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						CAAGCTGAAGCTGGACCTGAC	0.657		NA											22	39					0	0	0	0
ZNF302	55900	broad.mit.edu	37	19	35175210	35175210	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:35175210G>A	uc002nvr.1	+	6	663	c.400G>A	c.(400-402)GAT>AAT	p.D134N	ZNF302_uc002nvp.1_Missense_Mutation_p.D90N|ZNF302_uc002nvq.1_Missense_Mutation_p.D90N|ZNF302_uc002nvs.1_Missense_Mutation_p.D90N	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	Error:Variant_position_missing_in_Q9NR11_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGATATTTATGATGAAGATTC	0.294		NA											20	32					0	0	0	0
CAPNS1	826	broad.mit.edu	37	19	36633613	36633613	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:36633613C>A	uc002odj.2	+	4	460	c.303C>A	c.(301-303)TTC>TTA	p.F101L	CAPNS1_uc002odi.1_Missense_Mutation_p.F101L|CAPNS1_uc002odk.2_Missense_Mutation_p.F101L|CAPNS1_uc002odl.2_Missense_Mutation_p.F101L	NM_001749	NP_001740	P04632	CPNS1_HUMAN	calpain, small subunit 1	101	EF-hand 1; atypical.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCGGCAGTTCCGGAGACTCT	0.612		NA											45	94					2.78e-22	3.05e-22	1	0
RAB4B	53916	broad.mit.edu	37	19	41289968	41289968	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:41289968G>T	uc002opd.1	+	5	528	c.418G>T	c.(418-420)GCC>TCC	p.A140S	RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_Intron|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.A166S	NM_016154	NP_057238	P61018	RAB4B_HUMAN	ras-related GTP-binding protein 4b	140					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCCCGCTTTGCCCAGGAGAA	0.627		NA											18	29					8.34e-07	8.87e-07	1	0
FBXO46	23403	broad.mit.edu	37	19	46215924	46215924	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:46215924C>T	uc002pcy.2	-	2	955	c.830G>A	c.(829-831)GGC>GAC	p.G277D	FBXO46_uc002pcz.2_Missense_Mutation_p.G277D	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	277							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		ACTGGGCAGGCCGCTGTCTGG	0.697		NA											13	14					0	0	0	0
GPR77	27202	broad.mit.edu	37	19	47844487	47844487	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:47844487C>T	uc010ela.1	+	2	649	c.431C>T	c.(430-432)ACG>ATG	p.T144M	GPR77_uc002pgk.1_Missense_Mutation_p.T144M	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	144	Cytoplasmic (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		TGGTGGTCTACGGTTCAGCGG	0.677		NA											34	71					0	0	0	0
ZNF665	79788	broad.mit.edu	37	19	53668506	53668506	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:53668506G>C	uc010eqm.1	-	4	1337	c.1237C>G	c.(1237-1239)CAG>GAG	p.Q413E		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	348	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TGTGAATACTGAGTGAAAACC	0.408		NA											17	30					0	0	0	0
ZNF761	388561	broad.mit.edu	37	19	53959873	53959873	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:53959873C>T	uc010eqp.2	+	7	2570	c.2112C>T	c.(2110-2112)TCC>TCT	p.S704S	ZNF761_uc010ydy.1_Silent_p.S650S|ZNF761_uc002qbt.1_Silent_p.S650S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	704	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		AGAAGTCATCCCTTATATGCC	0.388		NA											27	65					0	0	0	0
SOX11	6664	broad.mit.edu	37	2	5833021	5833021	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:5833021C>T	uc002qyj.2	+	1	223	c.168C>T	c.(166-168)TTC>TTT	p.F56F		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	56	HMG box.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGAACGCGTTCATGGTATGGT	0.602		NA											6	11					0	0	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554437	85554437	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:85554437A>G	uc010fgd.1	-	2	707	c.418T>C	c.(418-420)TCG>CCG	p.S140P	TGOLN2_uc002soz.2_Missense_Mutation_p.S140P|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Missense_Mutation_p.S140P|TGOLN2_uc002spc.1_Missense_Mutation_p.S140P	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	140	Extracellular (Potential).|7.|14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						TCCGCACCCGATTTGCCAGTG	0.592		NA											201	358					0	0	0	0
IL1R1	3554	broad.mit.edu	37	2	102782600	102782600	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:102782600A>G	uc002tbq.2	+	6	832	c.514A>G	c.(514-516)ATA>GTA	p.I172V	IL1R1_uc010fix.2_Missense_Mutation_p.I172V|IL1R1_uc002tbp.2_Missense_Mutation_p.I172V|IL1R1_uc002tbr.2_Missense_Mutation_p.I172V	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	172	Extracellular (Potential).|Ig-like C2-type 2.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			skin(1)	1					Anakinra(DB00026)	TCTTGACAATATACACTTTAG	0.413		NA											24	40					0	0	0	0
WDR33	55339	broad.mit.edu	37	2	128480839	128480839	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:128480839C>T	uc002tpg.1	-	12	1462	c.1279G>A	c.(1279-1281)GGA>AGA	p.G427R		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	427					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TATTCTACTCCATCTTCAGAC	0.348		NA											40	99					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179588170	179588170	+	Silent	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:179588170A>T	uc010zfg.1	-	71	18149	c.17925T>A	c.(17923-17925)TCT>TCA	p.S5975S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S2636S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6902							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTAGTGCAAGATGCTTGGC	0.403		NA											9	17					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179654095	179654095	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:179654095G>C	uc010zfg.1	-	13	2292	c.2068C>G	c.(2068-2070)CAT>GAT	p.H690D	TTN_uc010zfh.1_Missense_Mutation_p.H644D|TTN_uc010zfi.1_Missense_Mutation_p.H644D|TTN_uc010zfj.1_Missense_Mutation_p.H644D|TTN_uc002unb.2_Missense_Mutation_p.H690D|TTN_uc010frg.1_Missense_Mutation_p.H272D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	690							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTCCATGGGTAACTTGG	0.338		NA											37	77					0	0	0	0
DNAH7	56171	broad.mit.edu	37	2	196726633	196726633	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:196726633C>T	uc002utj.3	-	42	7645	c.7544G>A	c.(7543-7545)CGA>CAA	p.R2515Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2515	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTCCAAGAATCGTGAGGCAAC	0.378		NA											18	33					0	0	0	0
ATG16L1	55054	broad.mit.edu	37	2	234198586	234198586	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:234198586G>A	uc002vty.2	+	13	1547	c.1290G>A	c.(1288-1290)CGG>CGA	p.R430R	ATG16L1_uc002vtx.1_Silent_p.R267R|ATG16L1_uc002vua.2_Silent_p.R411R|ATG16L1_uc002vub.2_Silent_p.R288R|ATG16L1_uc002vtz.2_Silent_p.R251R|ATG16L1_uc002vud.3_Silent_p.R346R	NM_030803	NP_110430	Q676U5	A16L1_HUMAN	APG16 autophagy 16-like isoform 1	430	WD 3.				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding				0		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GTCACGACCGGACTCTCAAAC	0.502		NA											18	41					0	0	0	0
ASB1	51665	broad.mit.edu	37	2	239342262	239342262	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:239342262G>A	uc002vyg.2	+	2	203	c.117G>A	c.(115-117)ACG>ACA	p.T39T		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	39	ANK 1.				intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GTGAGGACACGAGGCTCCATG	0.587		NA											10	22					0	0	0	0
ATRN	8455	broad.mit.edu	37	20	3565467	3565467	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:3565467C>T	uc002wim.2	+	18	3214	c.3124C>T	c.(3124-3126)CTC>TTC	p.L1042F	ATRN_uc002wil.2_Missense_Mutation_p.L1042F	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	1042	Extracellular (Potential).|PSI 4.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						ACAGCCCCTGCTCAATTCCAG	0.458		NA											59	101					0	0	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830958	13830958	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:13830958T>G	uc010gcf.2	-	19	1908	c.1826A>C	c.(1825-1827)CAC>CCC	p.H609P	SEL1L2_uc002woq.3_Missense_Mutation_p.H470P|SEL1L2_uc010zrl.1_Missense_Mutation_p.H496P|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	609	Extracellular (Potential).|Sel1-like 11.					integral to membrane	binding			ovary(2)	2						TCTGGCCAAGTGAATGTCCTA	0.413		NA											17	49					0	0	0	0
SSTR4	6754	broad.mit.edu	37	20	23017025	23017025	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:23017025C>T	uc002wsr.2	+	1	969	c.905C>T	c.(904-906)GCC>GTC	p.A302V		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	302	Helical; Name=7; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTAGCTATGCCAACAGCTGC	0.577		NA											33	111					0	0	0	0
ASXL1	171023	broad.mit.edu	37	20	31021439	31021439	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:31021439G>A	uc002wxs.2	+	11	1864	c.1438G>A	c.(1438-1440)GAA>AAA	p.E480K	ASXL1_uc010geb.2_Missense_Mutation_p.E371K	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	480					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GGAGGGTCCCGAATTCCCAGT	0.597		NA	F|N|Mis		MDS|CMML								15	161					0	0	0	0
SYCP2	10388	broad.mit.edu	37	20	58443591	58443591	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:58443591A>T	uc002yaz.2	-	37	4004	c.3865T>A	c.(3865-3867)TAT>AAT	p.Y1289N		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1289					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTTCTATATATATTCTTTTG	0.333		NA											26	33					0	0	0	0
TCEA2	6919	broad.mit.edu	37	20	62701952	62701952	+	Nonsense_Mutation	SNP	C	C	A	rs141114667		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:62701952C>A	uc011abs.1	+	8	1439	c.783C>A	c.(781-783)TGC>TGA	p.C261*	TCEA2_uc011abr.1_Nonsense_Mutation_p.C234*|TCEA2_uc010gks.2_Nonsense_Mutation_p.C262*	NM_003195	NP_003186	Q15560	TCEA2_HUMAN	transcription elongation factor A protein 2	261	TFIIS-type.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCACCTGCGGCAAGTGCA	0.632		NA											10	11					0.000442599	0.000460054	1	0
ZNF70	7621	broad.mit.edu	37	22	24086332	24086332	+	Silent	SNP	G	G	A	rs141862105		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:24086332G>A	uc002zxs.2	-	2	1457	c.996C>T	c.(994-996)GGC>GGT	p.G332G	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	332						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						AGGGCTTCTCGCCAGTGTGGG	0.567		NA											19	41					0	0	0	0
LARGE	9215	broad.mit.edu	37	22	33670599	33670599	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:33670599G>A	uc003and.3	-	16	2664	c.2085C>T	c.(2083-2085)TTC>TTT	p.F695F	LARGE_uc011amd.1_Silent_p.F494F|LARGE_uc003ane.3_Silent_p.F695F|LARGE_uc010gwp.2_Silent_p.F643F|LARGE_uc011ame.1_Silent_p.F627F|LARGE_uc011amf.1_Silent_p.F646F	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	695	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				GCAGCACAATGAACTCATACT	0.507		NA									OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	26					0	0	0	0
CBX6	23466	broad.mit.edu	37	22	39262468	39262468	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:39262468G>T	uc003awl.2	-	5	1048	c.985C>A	c.(985-987)CCG>ACG	p.P329T		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	329					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					ACCTCAGGCGGTGCCCGCTTG	0.756		NA											7	9					2.77e-08	2.95e-08	1	0
CACNA1I	8911	broad.mit.edu	37	22	40061518	40061518	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:40061518G>A	uc003ayc.2	+	22	3867	c.3867G>A	c.(3865-3867)GCG>GCA	p.A1289A	CACNA1I_uc003ayd.2_Silent_p.A1254A|CACNA1I_uc003aye.2_Silent_p.A1204A|CACNA1I_uc003ayf.2_Silent_p.A1169A	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1289	III.|Helical; Name=S4 of repeat III; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCAGCCGGGCGCCGGGCCTGA	0.617		NA											22	32					0	0	0	0
FBLN1	2192	broad.mit.edu	37	22	45937151	45937151	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:45937151G>A	uc003bgj.1	+	9	1112	c.965G>A	c.(964-966)GGG>GAG	p.G322E	FBLN1_uc003bgg.1_Missense_Mutation_p.G322E|FBLN1_uc003bgh.2_Missense_Mutation_p.G322E|FBLN1_uc010gzz.2_Missense_Mutation_p.G360E|FBLN1_uc003bgi.1_Missense_Mutation_p.G322E	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	322	EGF-like 4; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCCCTATCGGGCATACATGC	0.542		NA											22	50					0	0	0	0
PLA1A	51365	broad.mit.edu	37	3	119327618	119327618	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:119327618G>T	uc003ecu.2	+	3	316	c.277G>T	c.(277-279)GTT>TTT	p.V93F	PLA1A_uc003ecv.2_Missense_Mutation_p.V93F|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_5'UTR	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	93					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CCTGTCTAGGGTTTTAGGAAC	0.408		NA											44	137					3.86e-30	4.25e-30	1	0
SEMA5B	54437	broad.mit.edu	37	3	122634428	122634428	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:122634428G>A	uc003efz.1	-	14	2151	c.1847C>T	c.(1846-1848)TCA>TTA	p.S616L	SEMA5B_uc011bju.1_Missense_Mutation_p.S558L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.S616L|SEMA5B_uc010hro.1_Missense_Mutation_p.S558L	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	616	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TTGCCATGGTGACCATGGGCC	0.587		NA											13	52					0	0	0	0
GMPS	8833	broad.mit.edu	37	3	155652794	155652794	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:155652794G>T	uc003faq.2	+	14	2101	c.1766G>T	c.(1765-1767)CGC>CTC	p.R589L	GMPS_uc011bom.1_Missense_Mutation_p.R490L	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	589					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGTACTTTACGCCAAGCTGAT	0.408		NA	T	MLL	AML								58	162					3.77e-22	4.12e-22	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	46					0	0	0	0
MUC7	4589	broad.mit.edu	37	4	71346725	71346725	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr4:71346725C>T	uc011cat.1	+	4	552	c.264C>T	c.(262-264)CAC>CAT	p.H88H	MUC7_uc011cau.1_Silent_p.H88H|MUC7_uc003hfj.2_Silent_p.H88H|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	88						extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			CAAATCCTCACCAGCCACCTA	0.458		NA											29	65					0	0	0	0
INTU	27152	broad.mit.edu	37	4	128564981	128564981	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr4:128564981G>A	uc003ifk.1	+	2	522	c.452G>A	c.(451-453)GGA>GAA	p.G151E	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	151										ovary(1)	1						CAGAAGACAGGAGTCATTGTC	0.388		NA											36	63					0	0	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543481	141543481	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr4:141543481C>T	uc010ioj.2	-	21	3941	c.3669G>A	c.(3667-3669)GAG>GAA	p.E1223E		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1223						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCAGGGCAGGCTCAGTTAAGA	0.627		NA											9	14					0	0	0	0
CD180	4064	broad.mit.edu	37	5	66479050	66479050	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:66479050T>C	uc003juy.2	-	3	1769	c.1621A>G	c.(1621-1623)AGC>GGC	p.S541G		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	541	LRR 18.|Extracellular (Potential).				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTAAGATGGCTAAGAGAATCA	0.468		NA											9	53					0	0	0	0
FBN2	2201	broad.mit.edu	37	5	127595365	127595365	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:127595365C>T	uc003kuu.2	-	65	8960	c.8521G>A	c.(8521-8523)GAT>AAT	p.D2841N		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2841					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACGCTGTCATCGTTCCCTTGA	0.547		NA											34	105					0	0	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128977612	128977612	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:128977612C>T	uc003kvb.1	+	11	1813	c.1813C>T	c.(1813-1815)CTA>TTA	p.L605L	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	605	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGAACCAAGCTAGACCCACC	0.398		NA											19	75					0	0	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857271	140857271	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:140857271C>T	uc003lkv.1	+	1	1703	c.1588C>T	c.(1588-1590)CGG>TGG	p.R530W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.R530W|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	530	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGAGGATCGGCGGGAATT	0.493		NA											17	51					0	0	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216430	149216430	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:149216430C>T	uc003lrc.2	+	8	2454	c.2412C>T	c.(2410-2412)TTC>TTT	p.F804F	PPARGC1B_uc003lrb.1_Silent_p.F804F|PPARGC1B_uc003lrd.2_Silent_p.F765F|PPARGC1B_uc003lrf.2_Silent_p.F783F|PPARGC1B_uc003lre.1_Silent_p.F783F	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	804	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGAGCAGCTTCCTCCCAgagg	0.458		NA											122	24					0	0	0	0
SNX14	57231	broad.mit.edu	37	6	86259572	86259572	+	Silent	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr6:86259572T>C	uc003pkr.2	-	8	853	c.660A>G	c.(658-660)CAA>CAG	p.Q220Q	SNX14_uc003pkp.2_Silent_p.Q83Q|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Silent_p.Q168Q|SNX14_uc003pks.2_Silent_p.Q176Q|SNX14_uc003pkt.2_Silent_p.Q220Q	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	220	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CTAAAGCAGCTTGCTGTAAAA	0.308		NA											23	42					0	0	0	0
WDR27	253769	broad.mit.edu	37	6	170052099	170052099	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr6:170052099G>A	uc003qwx.2	-	14	1928	c.1408C>T	c.(1408-1410)CGG>TGG	p.R470W	WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Missense_Mutation_p.R470W|WDR27_uc003qwy.2_Missense_Mutation_p.R343W			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	440										pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ATGACGTTCCGTGCAGCTGTG	0.413		NA											9	19					0	0	0	0
SDK1	221935	broad.mit.edu	37	7	4198148	4198148	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:4198148G>A	uc003smx.2	+	31	4833	c.4694G>A	c.(4693-4695)AGT>AAT	p.S1565N	SDK1_uc010kso.2_Missense_Mutation_p.S841N|SDK1_uc003smy.2_Missense_Mutation_p.S52N	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1565	Fibronectin type-III 9.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTGACTTCAGTTCAGAGACA	0.627		NA											15	51					0	0	0	0
ANLN	54443	broad.mit.edu	37	7	36456706	36456706	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:36456706A>C	uc003tff.2	+	9	1744	c.1540A>C	c.(1540-1542)ATG>CTG	p.M514L	ANLN_uc011kaz.1_Missense_Mutation_p.M426L|ANLN_uc003tfg.2_Intron|ANLN_uc010kxe.2_Intron	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	514	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						TGAATGCGAAATGACGAAATC	0.294		NA											20	23					0	0	0	0
SFRP4	6424	broad.mit.edu	37	7	37951727	37951727	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:37951727C>T	uc003tfo.3	-	4	1171	c.785G>A	c.(784-786)CGC>CAC	p.R262H		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	262	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						CTACCTTGAGCGCCACTCGTA	0.443		NA											18	51					0	0	0	0
CDK13	8621	broad.mit.edu	37	7	40134010	40134010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:40134010C>T	uc003thh.3	+	14	4252	c.3970C>T	c.(3970-3972)CAA>TAA	p.Q1324*	CDK13_uc003thi.3_Nonsense_Mutation_p.Q1264*|CDK13_uc003thj.2_Nonsense_Mutation_p.Q375*|CDK13_uc003thk.2_Nonsense_Mutation_p.Q257*	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1324					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						GATTGATTATCAAGCAGGAGA	0.483		NA											29	52					0	0	0	0
EGFR	1956	broad.mit.edu	37	7	55268060	55268060	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:55268060A>C	uc003tqk.2	+	24	3146	c.2900A>C	c.(2899-2901)GAA>GCA	p.E967A	EGFR_uc010kzg.1_Missense_Mutation_p.E922A|EGFR_uc011kco.1_Missense_Mutation_p.E914A	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	967	Cytoplasmic (Potential).|Protein kinase.				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			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)	TTGATCATCGAATTCTCCAAA	0.473		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			41	70					0	0	0	0
MLL5	55904	broad.mit.edu	37	7	104753061	104753061	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:104753061C>G	uc003vcm.2	+	27	5392	c.4858C>G	c.(4858-4860)CAA>GAA	p.Q1620E	MLL5_uc010ljc.2_Missense_Mutation_p.Q1620E|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.Q354E	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1620	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CATTCACCATCAAACTGCTGC	0.552		NA											38	82					0	0	0	0
TRPV5	56302	broad.mit.edu	37	7	142605866	142605866	+	Silent	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:142605866G>T	uc003wby.1	-	15	2268	c.2004C>A	c.(2002-2004)CCC>CCA	p.P668P		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	668	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					CAGCCCCAGAGGGCTGTTTCT	0.567		NA											18	30					2.35e-11	2.55e-11	1	0
FAM150A	389658	broad.mit.edu	37	8	53452400	53452400	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:53452400T>C	uc003xrd.2	-	3	521	c.316A>G	c.(316-318)ACG>GCG	p.T106A	FAM150A_uc011ldt.1_Missense_Mutation_p.T106A	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN	hypothetical protein LOC389658 precursor	106						extracellular region					0		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				CAAGCTGGCGTTGAGCACTCC	0.388		NA											39	30					0	0	0	0
CHD7	55636	broad.mit.edu	37	8	61765709	61765709	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:61765709C>T	uc003xue.2	+	31	6902	c.6425C>T	c.(6424-6426)TCC>TTC	p.S2142F		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2142					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AATACATCTTCCTTGAACCCA	0.463		NA											29	19					0	0	0	0
FABP9	646480	broad.mit.edu	37	8	82373746	82373746	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:82373746A>G	uc011lfo.1	-	1	13	c.13T>C	c.(13-15)TTC>CTC	p.F5L		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	5							lipid binding|transporter activity				0			Epithelial(68;0.186)			GTTCCCAAGAAGGGCTCAACC	0.403		NA											42	147					0	0	0	0
ASAP1	50807	broad.mit.edu	37	8	131172152	131172152	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:131172152T>C	uc003yta.1	-	11	996	c.968A>G	c.(967-969)TAT>TGT	p.Y323C	ASAP1_uc003ysz.1_Missense_Mutation_p.Y134C|ASAP1_uc011liw.1_Missense_Mutation_p.Y316C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	323					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TTCACTGCCATATTCCTTATT	0.438		NA											168	123					0	0	0	0
PTK2	5747	broad.mit.edu	37	8	141900671	141900671	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:141900671T>C	uc003yvu.2	-	3	396	c.166A>G	c.(166-168)ATC>GTC	p.I56V	PTK2_uc003yvs.2_Missense_Mutation_p.I56V|PTK2_uc003yvt.2_Missense_Mutation_p.I78V|PTK2_uc003yvv.2_5'UTR|PTK2_uc011ljr.1_Missense_Mutation_p.I56V	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	56	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CCATGCCTGATAATACTGGCC	0.393		NA											29	104					0	0	0	0
C9orf5	23731	broad.mit.edu	37	9	111853316	111853316	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr9:111853316G>A	uc004bdt.3	-	5	1068	c.1036C>T	c.(1036-1038)CTT>TTT	p.L346F	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.L346F	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	346						integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		TTCTTTCTAAGAAACGTTCCT	0.507		NA											13	127					0	0	0	0
C9orf119	375757	broad.mit.edu	37	9	131038579	131038579	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr9:131038579C>T	uc004bup.2	+	1	155	c.155C>T	c.(154-156)CCT>CTT	p.P52L	GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.P52L	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	52					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0						GTCAGAGTTCCTGGCCCGGTG	0.701		NA											7	32					0	0	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260591	30260591	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chrX:30260591G>A	uc004dcb.2	+	1	423	c.339G>A	c.(337-339)ACG>ACA	p.T113T	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	113	MAGE.									ovary(1)	1						CCAGGAAGACGAAGATGTTAG	0.443		NA											6	2					0	0	0	0
HUWE1	10075	broad.mit.edu	37	X	53571556	53571556	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chrX:53571556C>T	uc004dsp.2	-	72	11618	c.11216G>A	c.(11215-11217)CGG>CAG	p.R3739Q	HUWE1_uc004dsn.2_Missense_Mutation_p.R2547Q|HUWE1_uc004dsq.1_Missense_Mutation_p.R54Q	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3739					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CTTGTTAGCCCGGCGCGTGTC	0.537		NA											16	5					0	0	0	0
EVI5	7813	broad.mit.edu	37	1	93202126	93202127	+	In_Frame_Ins	INS	-	-	TGT			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:93202126_93202127insTGT	uc001dox.2	-	2	119_120	c.109_110insACA	c.(109-111)ACA>AACACA	p.36_37insN	EVI5_uc010otf.1_In_Frame_Ins_p.36_37insN	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	36_37	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ATGCGATACTGTGTTCTTCACC	0.436		NA											56	124	---	---	---	---	NA	NA	NA	NA
SUPV3L1	6832	broad.mit.edu	37	10	70940081	70940081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:70940081delC	uc001jpe.1	+	1	89	c.34delC	c.(34-36)CTCfs	p.L12fs	SUPV3L1_uc010qjd.1_5'UTR	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	12					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2						GTGGGCTCGGCTCCCGGCGGG	0.687		NA											22	29	---	---	---	---	NA	NA	NA	NA
TIAL1	7073	broad.mit.edu	37	10	121341997	121341998	+	In_Frame_Ins	INS	-	-	AGCAGCTAATGC			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:121341997_121341998insAGCAGCTAATGC	uc001lei.1	-	3	765_766	c.201_202insGCATTAGCTGCT	c.(199-204)insGCATTAGCTGCT	p.67_68insALAA	TIAL1_uc001leh.1_In_Frame_Ins_p.45_46insALAA|TIAL1_uc001lej.1_In_Frame_Ins_p.84_85insALAA|TIAL1_uc001lek.1_Translation_Start_Site|TIAL1_uc009xzi.1_Intron|TIAL1_uc010qtb.1_Translation_Start_Site	NM_003252	NP_003243	Q01085	TIAR_HUMAN	TIA-1 related protein isoform 1	67_68	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CTCCCATTCATAGCAGCTAATG	0.371		NA											11	185	---	---	---	---	NA	NA	NA	NA
INPP5F	22876	broad.mit.edu	37	10	121563719	121563721	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:121563719_121563721delAGA	uc001leo.2	+	10	1317_1319	c.1151_1153delAGA	c.(1150-1155)GAGAAG>GAG	p.K385del		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	385	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GCAGGAAGAGAGAAGATTATTGG	0.36		NA											40	90	---	---	---	---	NA	NA	NA	NA
NPLOC4	55666	broad.mit.edu	37	17	79532588	79532588	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:79532588delC	uc002kat.3	-	16	1794	c.1612delG	c.(1612-1614)GAGfs	p.E538fs	NPLOC4_uc002kau.3_Frame_Shift_Del_p.E538fs|NPLOC4_uc010wur.1_Frame_Shift_Del_p.E377fs|NPLOC4_uc002kar.2_5'Flank|NPLOC4_uc010dic.2_RNA|NPLOC4_uc002kas.2_Frame_Shift_Del_p.R61fs	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	538					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGGCGAGCTCCTCATTTCTG	0.622		NA											2	4	---	---	---	---	NA	NA	NA	NA
DSG1	1828	broad.mit.edu	37	18	28919849	28919849	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr18:28919849delT	uc002kwp.2	+	11	1760	c.1548delT	c.(1546-1548)GATfs	p.D516fs		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	516	Extracellular (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTAACTATGATACCAGCACAA	0.398		NA											48	107	---	---	---	---	NA	NA	NA	NA
ESF1	51575	broad.mit.edu	37	20	13763275	13763275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:13763275delT	uc002woj.2	-	2	620	c.512delA	c.(511-513)AACfs	p.N171fs	ESF1_uc002wok.1_Frame_Shift_Del_p.N171fs|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TTGAACAATGTTTTTTTTCTC	0.318		NA											9	25	---	---	---	---	NA	NA	NA	NA