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
PTCHD2	57540	broad.mit.edu	37	1	11596541	11596541	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:11596541C>T	uc001ash.3	+	21	4115	c.3977C>T	c.(3976-3978)ACG>ATG	p.T1326M		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1326	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCACTCAACACGGGCGTGTCC	0.607												
MTHFR	4524	broad.mit.edu	37	1	11851278	11851278	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:11851278A>G	uc001atc.1	-	11	1922	c.1738T>C	c.(1738-1740)TTC>CTC	p.F580L	MTHFR_uc001atb.1_Missense_Mutation_p.F603L	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	580					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CAGAACATGAAGCTGACGGGA	0.592												
CCDC21	64793	broad.mit.edu	37	1	26584166	26584166	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:26584166A>G	uc001bls.1	+	5	1113	c.982A>G	c.(982-984)AGC>GGC	p.S328G	CCDC21_uc001blr.2_Missense_Mutation_p.S328G|CCDC21_uc010ofa.1_Missense_Mutation_p.S277G	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	coiled-coil domain containing 21	328						centrosome|nucleolus|spindle pole					0		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTGGATCAGCATCTTGAA	0.507												
ZMYM6	9204	broad.mit.edu	37	1	35457896	35457896	+	Silent	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:35457896G>A	uc001byh.2	-	15	2313	c.2085C>T	c.(2083-2085)CCC>CCT	p.P695P	ZMYM6_uc001byf.1_Silent_p.P695P|ZMYM6_uc010oht.1_Silent_p.P598P|ZMYM6_uc009vup.2_Silent_p.P501P|ZMYM6_uc009vuq.1_Silent_p.P695P	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	695					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TCTGTGTGACGGGTTTGCATG	0.428												
RLF	6018	broad.mit.edu	37	1	40705333	40705333	+	Silent	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:40705333G>A	uc001cfc.3	+	8	4990	c.4959G>A	c.(4957-4959)GGG>GGA	p.G1653G	RLF_uc001cfd.3_Silent_p.G1344G	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1653					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GTCAGAAAGGGTGCATAGAAA	0.468												
RNF220	55182	broad.mit.edu	37	1	44878227	44878227	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:44878227T>A	uc001clv.1	+	2	818	c.458T>A	c.(457-459)TTG>TAG	p.L153*	RNF220_uc001clw.1_Nonsense_Mutation_p.L153*	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	153					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TCTCCCCACTTGCGCTTCTCA	0.542												
PRKACB	5567	broad.mit.edu	37	1	84650783	84650783	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:84650783G>T	uc001djj.2	+	5	601	c.337G>T	c.(337-339)GAT>TAT	p.D113Y	PRKACB_uc001djl.2_Missense_Mutation_p.D160Y|PRKACB_uc010ort.1_Missense_Mutation_p.D120Y|PRKACB_uc001djn.2_Missense_Mutation_p.D117Y|PRKACB_uc010oru.1_Missense_Mutation_p.D101Y|PRKACB_uc001djp.2_Missense_Mutation_p.D119Y|PRKACB_uc001djq.2_Missense_Mutation_p.D83Y|PRKACB_uc010orv.1_Missense_Mutation_p.D100Y|PRKACB_uc001dji.2_Missense_Mutation_p.D113Y|PRKACB_uc001djk.2_Missense_Mutation_p.D160Y|PRKACB_uc009wcf.1_Missense_Mutation_p.D119Y	NM_002731	NP_002722	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	113	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TTGTTCATAGGATAATTCTAA	0.274												
BRDT	676	broad.mit.edu	37	1	92467670	92467670	+	Silent	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:92467670G>A	uc001dok.3	+	16	2701	c.2352G>A	c.(2350-2352)ACG>ACA	p.T784T	BRDT_uc001dol.3_Silent_p.T784T|BRDT_uc010osz.1_Silent_p.T788T|BRDT_uc009wdf.2_Silent_p.T711T|BRDT_uc010ota.1_Silent_p.T738T|BRDT_uc010otb.1_Silent_p.T738T|BRDT_uc001dom.3_Silent_p.T784T	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTGACACAACGATGTTAGAAT	0.348												
NPR1	4881	broad.mit.edu	37	1	153661701	153661701	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:153661701C>A	uc001fcs.3	+	17	3023	c.2602C>A	c.(2602-2604)CAG>AAG	p.Q868K	NPR1_uc010pdz.1_Missense_Mutation_p.Q614K|NPR1_uc010pea.1_Missense_Mutation_p.Q346K	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	868	Cytoplasmic (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGAGACGGTGCAGGCCGAAGC	0.602												
RUSC1	23623	broad.mit.edu	37	1	155300220	155300220	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:155300220C>G	uc001fkj.2	+	10	2796	c.2567C>G	c.(2566-2568)ACT>AGT	p.T856S	RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.T750S|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.T387S|RUSC1_uc001fkl.2_Missense_Mutation_p.T446S|RUSC1_uc001fkp.2_Missense_Mutation_p.T387S|RUSC1_uc001fkq.2_Missense_Mutation_p.T281S|RUSC1_uc010pgb.1_Missense_Mutation_p.T354S|RUSC1_uc009wqp.1_Missense_Mutation_p.T381S|RUSC1_uc001fkn.2_Missense_Mutation_p.T165S|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.T387S|RUSC1_uc001fks.2_Missense_Mutation_p.T123S	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	856	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGTGATCACACTGCTGCAAGA	0.632												
SPTA1	6708	broad.mit.edu	37	1	158617463	158617463	+	Silent	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:158617463T>C	uc001fst.1	-	27	3961	c.3762A>G	c.(3760-3762)CCA>CCG	p.P1254P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1254	Spectrin 12.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CAGTGGCATCTGGATGGGACT	0.532												
OR10J1	26476	broad.mit.edu	37	1	159409696	159409696	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:159409696T>G	uc010piv.1	+	1	148	c.148T>G	c.(148-150)TTA>GTA	p.L50V	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	50	Helical; Name=1; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					CATCTTAACCTTAGCAGGCAA	0.438												
DNM3	26052	broad.mit.edu	37	1	171956837	171956837	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:171956837G>C	uc001gie.2	+	3	453	c.277G>C	c.(277-279)GAT>CAT	p.D93H	DNM3_uc001gid.3_Missense_Mutation_p.D93H|DNM3_uc009wwb.2_Missense_Mutation_p.D93H|DNM3_uc001gif.2_Missense_Mutation_p.D93H	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	93					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						GAAATTTACAGATTTTGATGA	0.333												
RASAL2	9462	broad.mit.edu	37	1	178269224	178269224	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:178269224A>C	uc001glq.2	+	3	1192	c.428A>C	c.(427-429)GAG>GCG	p.E143A	RASAL2_uc009wxb.2_Missense_Mutation_p.E143A	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	Error:Variant_position_missing_in_Q9UJF2_after_alignment					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CAGTTTCCCGAGTACCCACCA	0.478											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HMCN1	83872	broad.mit.edu	37	1	186038897	186038897	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:186038897T>C	uc001grq.1	+	51	8211	c.7982T>C	c.(7981-7983)GTG>GCG	p.V2661A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2661	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CACTATGAAGTGAAGGTGTAC	0.383												
CACNA1S	779	broad.mit.edu	37	1	201058563	201058563	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:201058563C>A	uc001gvv.2	-	6	950	c.723G>T	c.(721-723)GAG>GAT	p.E241D		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	241	Extracellular (Potential).|I.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGGGCGATGGCTCTTCATTCT	0.602												
FCAMR	83953	broad.mit.edu	37	1	207135614	207135614	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:207135614C>T	uc001hfa.3	-	5	1096	c.596G>A	c.(595-597)GGC>GAC	p.G199D	FCAMR_uc001hfb.2_Missense_Mutation_p.G199D|FCAMR_uc009xca.1_Missense_Mutation_p.G199D|FCAMR_uc001hfc.2_Missense_Mutation_p.G174D	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity isoform 2	154	Extracellular (Potential).|Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						ACTTCCAATGCCGCAGAGGTA	0.527												
USH2A	7399	broad.mit.edu	37	1	216138706	216138706	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:216138706A>T	uc001hku.1	-	37	7460	c.7073T>A	c.(7072-7074)CTC>CAC	p.L2358H		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2358	Extracellular (Potential).|Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGTGTTAAGAGTCCATTAGG	0.398										HNSCC(13;0.011)		
C1orf131	128061	broad.mit.edu	37	1	231362782	231362782	+	Silent	SNP	C	C	T	rs144671689	byFrequency	TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:231362782C>T	uc001hun.1	-	4	580	c.543G>A	c.(541-543)ACG>ACA	p.T181T	C1orf131_uc001hul.2_Silent_p.T181T|C1orf131_uc001hum.2_Silent_p.T180T|C1orf131_uc010pwd.1_Silent_p.T180T	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	hypothetical protein LOC128061	181										central_nervous_system(1)|skin(1)	2	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCCATAACCCGTGATACCAA	0.478												
OR2T6	254879	broad.mit.edu	37	1	248551739	248551739	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr1:248551739T>G	uc001iei.1	+	1	830	c.830T>G	c.(829-831)TTT>TGT	p.F277C		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTCTGCCTTTTATACCATC	0.468												
CACNB2	783	broad.mit.edu	37	10	18789832	18789833	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:18789832_18789833GG>TT	uc001ipr.2	+	5	608_609	c.548_549GG>TT	c.(547-549)AGG>ATT	p.R183I	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.R183I|CACNB2_uc001ipt.2_Missense_Mutation_p.R183I|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.R155I|CACNB2_uc001ipv.2_Missense_Mutation_p.R155I|CACNB2_uc009xka.1_Missense_Mutation_p.R155I|CACNB2_uc001ipw.2_Missense_Mutation_p.R128I|CACNB2_uc001ipx.2_Missense_Mutation_p.R128I|CACNB2_uc009xkb.1_Missense_Mutation_p.R129I|CACNB2_uc010qcm.1_Missense_Mutation_p.R129I|CACNB2_uc001ipz.2_Missense_Mutation_p.R129I|CACNB2_uc001ipy.2_Missense_Mutation_p.R129I|CACNB2_uc010qcn.1_Missense_Mutation_p.R135I|CACNB2_uc010qco.1_Missense_Mutation_p.R135I|CACNB2_uc001iqa.2_Missense_Mutation_p.R135I	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	183	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAAAACATGAGGCTGCAGCATG	0.406												
CACNB2	783	broad.mit.edu	37	10	18795432	18795432	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:18795432G>T	uc001ipr.2	+	6	686	c.626G>T	c.(625-627)GGT>GTT	p.G209V	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.G209V|CACNB2_uc001ipt.2_Missense_Mutation_p.G209V|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.G181V|CACNB2_uc001ipv.2_Missense_Mutation_p.G181V|CACNB2_uc009xka.1_Missense_Mutation_p.G181V|CACNB2_uc001ipw.2_Missense_Mutation_p.G154V|CACNB2_uc001ipx.2_Missense_Mutation_p.G154V|CACNB2_uc009xkb.1_Missense_Mutation_p.G155V|CACNB2_uc010qcm.1_Missense_Mutation_p.G155V|CACNB2_uc001ipz.2_Missense_Mutation_p.G155V|CACNB2_uc001ipy.2_Missense_Mutation_p.G155V|CACNB2_uc010qcn.1_Missense_Mutation_p.G161V|CACNB2_uc010qco.1_Missense_Mutation_p.G161V|CACNB2_uc001iqa.2_Missense_Mutation_p.G161V	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	209					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCAGTTTGGGTGACATAGTA	0.353												
NEBL	10529	broad.mit.edu	37	10	21097588	21097588	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:21097588T>A	uc001iqi.2	-	26	3009	c.2612A>T	c.(2611-2613)GAA>GTA	p.E871V	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	871	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						ACTCGCCTTTTCTATATTGGA	0.398												
RUFY2	55680	broad.mit.edu	37	10	70105583	70105583	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:70105583C>T	uc001job.2	-	18	2195	c.1868G>A	c.(1867-1869)CGG>CAG	p.R623Q	RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_Missense_Mutation_p.R178Q	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain-containing 2 isoform a	637	FYVE-type.					nucleus	metal ion binding			ovary(1)	1						ATCACAAACCCGTACTGGTTT	0.408												
KIAA1274	27143	broad.mit.edu	37	10	72291092	72291092	+	Missense_Mutation	SNP	G	G	A	rs140490112		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:72291092G>A	uc001jrd.3	+	5	796	c.515G>A	c.(514-516)CGT>CAT	p.R172H		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	172										ovary(2)|central_nervous_system(1)	3						CTTTTCCTGCGTGCAGATGAG	0.592												
C10orf2	56652	broad.mit.edu	37	10	102748498	102748498	+	Silent	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:102748498T>C	uc001ksf.2	+	1	1206	c.531T>C	c.(529-531)GAT>GAC	p.D177D	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Silent_p.D177D|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	177					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGCTGGCTGATACAATGTTTG	0.537												
HABP2	3026	broad.mit.edu	37	10	115341635	115341635	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:115341635A>T	uc001lai.3	+	9	942	c.839A>T	c.(838-840)GAC>GTC	p.D280V	HABP2_uc010qrz.1_Intron	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	280					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGTCCCACAGACGTTGCCTAC	0.527												
HABP2	3026	broad.mit.edu	37	10	115341702	115341702	+	Silent	SNP	A	A	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:115341702A>T	uc001lai.3	+	9	1009	c.906A>T	c.(904-906)GGA>GGT	p.G302G	HABP2_uc010qrz.1_Intron	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	302					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		ACTCCTGTGGAAAGACTGAGA	0.532												
OR52K1	390036	broad.mit.edu	37	11	4510935	4510935	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:4510935C>T	uc001lza.1	+	1	805	c.805C>T	c.(805-807)CAT>TAT	p.H269Y		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTAGCCCGCCATGCTGCCCC	0.502												
CNGA4	1262	broad.mit.edu	37	11	6265440	6265440	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:6265440A>C	uc001mco.2	+	6	1636	c.1529A>C	c.(1528-1530)AAG>ACG	p.K510T	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	510	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACAGACCAAGTTTGCTCGC	0.587												
ST5	6764	broad.mit.edu	37	11	8752389	8752389	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:8752389C>T	uc001mgt.2	-	3	634	c.448G>A	c.(448-450)GTC>ATC	p.V150I	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Missense_Mutation_p.V150I|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.V150I	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	150					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GTCAGCAAGACGCCCCGGGGG	0.682												
ANO3	63982	broad.mit.edu	37	11	26552850	26552850	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:26552850A>C	uc001mqt.3	+	8	981	c.836A>C	c.(835-837)TAT>TCT	p.Y279S	ANO3_uc010rdr.1_Missense_Mutation_p.Y263S|ANO3_uc010rds.1_Missense_Mutation_p.Y118S|ANO3_uc010rdt.1_Missense_Mutation_p.Y133S	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	279	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCAGACTGCTATACTGGCCCC	0.433												
OR8I2	120586	broad.mit.edu	37	11	55860973	55860973	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:55860973A>C	uc010rix.1	+	1	190	c.190A>C	c.(190-192)AGC>CGC	p.S64R		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					CTTTTTCCTGAGCAATTTAGC	0.393												
MPEG1	219972	broad.mit.edu	37	11	58978631	58978631	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:58978631C>T	uc001nnu.3	-	1	1864	c.1708G>A	c.(1708-1710)GAT>AAT	p.D570N		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	570	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				TGGCATCCATCGCTGATGAGG	0.607												
SHANK2	22941	broad.mit.edu	37	11	70506018	70506018	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:70506018A>G	uc001oqc.2	-	14	2054	c.1976T>C	c.(1975-1977)TTC>TCC	p.F659S	SHANK2_uc010rqn.1_Missense_Mutation_p.F71S|SHANK2_uc001opz.2_Missense_Mutation_p.F71S|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.F71S	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	280	PDZ.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TAGGGCTGGGAAAGCCGGTGT	0.557												
SIK2	23235	broad.mit.edu	37	11	111594234	111594234	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:111594234G>A	uc001plt.2	+	15	2280	c.2162G>A	c.(2161-2163)CGA>CAA	p.R721Q		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	721					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						CAGCAGAAGCGACTCTTTCTT	0.428												
TTC12	54970	broad.mit.edu	37	11	113222820	113222820	+	Missense_Mutation	SNP	C	C	T	rs147647661		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:113222820C>T	uc001pnu.2	+	16	1442	c.1337C>T	c.(1336-1338)TCG>TTG	p.S446L	TTC12_uc001pnv.2_Missense_Mutation_p.S452L|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.S296L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	446							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGCAGCTCCTCGGCTCTGTGC	0.542												
OR6T1	219874	broad.mit.edu	37	11	123813599	123813599	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:123813599A>C	uc010sab.1	-	1	947	c.947T>G	c.(946-948)CTG>CGG	p.L316R		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	316	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTGACCCTCAGTTTCATCAC	0.428												
CLEC7A	64581	broad.mit.edu	37	12	10271125	10271125	+	Missense_Mutation	SNP	A	A	G	rs144851220		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:10271125A>G	uc001qxg.2	-	6	863	c.676T>C	c.(676-678)TCA>CCA	p.S226P	CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.S180P|CLEC7A_uc001qxh.2_Missense_Mutation_p.V140A|CLEC7A_uc001qxi.2_Missense_Mutation_p.V186A|CLEC7A_uc001qxj.2_Missense_Mutation_p.S147P|CLEC7A_uc009zhg.1_RNA|CLEC7A_uc001qxk.1_RNA	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	226	C-type lectin.|Extracellular (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)	1						TAAATGACTGACACGTGAATC	0.378												
LRRK2	120892	broad.mit.edu	37	12	40745528	40745528	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:40745528C>T	uc001rmg.3	+	44	6690	c.6569C>T	c.(6568-6570)ACT>ATT	p.T2190I	LRRK2_uc009zjw.2_Missense_Mutation_p.T1028I|LRRK2_uc001rmi.2_Missense_Mutation_p.T1023I	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2190					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)				GAAGGATACACTTCTGAGGTA	0.383												
PDZRN4	29951	broad.mit.edu	37	12	41966968	41966968	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:41966968A>C	uc010skn.1	+	10	1858	c.1790A>C	c.(1789-1791)AAA>ACA	p.K597T	PDZRN4_uc001rmq.3_Missense_Mutation_p.K538T|PDZRN4_uc009zjz.2_Missense_Mutation_p.K536T|PDZRN4_uc001rmr.2_Missense_Mutation_p.K423T	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	796							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ACCAAAGCCAAAACCACTGAG	0.498												
ADCY6	112	broad.mit.edu	37	12	49168189	49168189	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:49168189T>C	uc001rsh.3	-	13	2939	c.2279A>G	c.(2278-2280)AAC>AGC	p.N760S	ADCY6_uc001rsj.3_Missense_Mutation_p.N760S|ADCY6_uc001rsi.3_Missense_Mutation_p.N760S|ADCY6_uc010slw.1_5'UTR	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	760	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						CCTTACCATGTTGGCAATGGC	0.373												
AQP2	359	broad.mit.edu	37	12	50344542	50344542	+	Translation_Start_Site	SNP	A	A	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:50344542A>G	uc001rvn.2	+	1	19	c.-71A>G	c.(-73--69)ATAGA>ATGGA			NM_000486	NP_000477	P41181	AQP2_HUMAN	aquaporin 2						cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			ovary(2)	2						AGAGAGCGATAGAGTGCGAGA	0.637												
CBX5	23468	broad.mit.edu	37	12	54651321	54651321	+	Silent	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:54651321T>G	uc001sfh.3	-	2	432	c.114A>C	c.(112-114)CTA>CTC	p.L38L	CBX5_uc001sfk.3_Silent_p.L38L|CBX5_uc001sfi.3_Silent_p.L38L|CBX5_uc001sfj.3_Silent_p.L38L	NM_001127322	NP_001120794	P45973	CBX5_HUMAN	heterochromatin protein 1-alpha	38	Chromo 1.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding				0						TCCACTTCAGTAGATATTCCA	0.468												
NEUROD4	58158	broad.mit.edu	37	12	55420235	55420235	+	Silent	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:55420235T>G	uc001sgp.3	+	2	390	c.12T>G	c.(10-12)ACT>ACG	p.T4T		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	4					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4						TGTCAAAAACTTTTGTAAAAT	0.378												
OR6C2	341416	broad.mit.edu	37	12	55846327	55846327	+	Silent	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:55846327T>C	uc001sgz.1	+	1	330	c.330T>C	c.(328-330)TTT>TTC	p.F110F		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CAACAGAATTTTTTCTCTTGG	0.403												
CD63	967	broad.mit.edu	37	12	56120706	56120706	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:56120706C>T	uc001shm.2	-	3	394	c.298G>A	c.(298-300)GCA>ACA	p.A100T	CD63_uc009znz.2_Missense_Mutation_p.A77T|CD63_uc001shn.2_Missense_Mutation_p.A100T|CD63_uc001sho.2_Missense_Mutation_p.A100T|CD63_uc001shp.2_Missense_Mutation_p.A100T	NM_001780	NP_001771	P08962	CD63_HUMAN	CD63 antigen isoform A	100	Helical; (Potential).				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane					0						GCAATGGCTGCGGCCACCTCC	0.512												
PPFIA2	8499	broad.mit.edu	37	12	81719569	81719569	+	Silent	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:81719569T>G	uc001szo.1	-	22	2790	c.2629A>C	c.(2629-2631)AGA>CGA	p.R877R	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	803										ovary(3)|lung(2)|pancreas(1)	6						TTCTTTAGTCTTCGATCCTTC	0.393												
RAD9B	144715	broad.mit.edu	37	12	110943579	110943579	+	Splice_Site	SNP	T	T	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr12:110943579T>A	uc001trf.3	+	3	411	c.273_splice	c.e3+2	p.K91_splice	RAD9B_uc001trg.3_Splice_Site_p.K91_splice|RAD9B_uc010sya.1_Splice_Site_p.K91_splice|RAD9B_uc001tre.3_Splice_Site_p.K19_splice|RAD9B_uc001trd.3_Splice_Site	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	RAD9 homolog B						cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			pancreas(1)|skin(1)	2						GGAATGAAGGTAAATATAAGT	0.323												
COG6	57511	broad.mit.edu	37	13	40293448	40293448	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr13:40293448G>C	uc001uxh.2	+	14	1460	c.1360G>C	c.(1360-1362)GCA>CCA	p.A454P	COG6_uc001uxi.2_Missense_Mutation_p.A402P|COG6_uc010acb.2_Missense_Mutation_p.A454P	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	454					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TGAAGTTTTAGCATCTCACGA	0.383												
SPERT	220082	broad.mit.edu	37	13	46287709	46287709	+	Silent	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr13:46287709C>T	uc001van.1	+	3	629	c.549C>T	c.(547-549)CGC>CGT	p.R183R	SPERT_uc001vao.2_Silent_p.R147R	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	183	Potential.					cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGGCCCTGCGCGAGGAGAACC	0.632												
OR4K15	81127	broad.mit.edu	37	14	20443925	20443925	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr14:20443925T>G	uc010tkx.1	+	1	248	c.248T>G	c.(247-249)ATG>AGG	p.M83R		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	83	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACACCCCCATGTACTTTCTG	0.418												
SUPT16H	11198	broad.mit.edu	37	14	21840168	21840168	+	Silent	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr14:21840168G>A	uc001wao.2	-	3	534	c.195C>T	c.(193-195)ATC>ATT	p.I65I		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	65					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAAAGACCATGATAGTATCAG	0.348												
SYNE2	23224	broad.mit.edu	37	14	64443311	64443311	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr14:64443311G>A	uc001xgm.2	+	12	1389	c.1159G>A	c.(1159-1161)GCC>ACC	p.A387T	SYNE2_uc001xgl.2_Missense_Mutation_p.A387T	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	387	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTAAATTATGCCTTGCCCCC	0.383												
NRXN3	9369	broad.mit.edu	37	14	79117586	79117586	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr14:79117586T>G	uc001xun.2	+	3	510	c.19T>G	c.(19-21)TTC>GTC	p.F7V	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.F141V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	380	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTCGGACGACTTCTTCTATGT	0.522												
SERPINA3	12	broad.mit.edu	37	14	95081072	95081072	+	Silent	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr14:95081072G>A	uc001ydp.2	+	2	373	c.294G>A	c.(292-294)GAG>GAA	p.E98E	SERPINA3_uc001ydo.3_Silent_p.E123E|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Silent_p.E98E|SERPINA3_uc001yds.2_Silent_p.E98E|SERPINA3_uc010avg.2_Silent_p.E98E	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	98					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CCCTGACAGAGATTCTCAAAG	0.547												
C15orf23	90417	broad.mit.edu	37	15	40675071	40675071	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:40675071T>G	uc001zll.2	+	1	150	c.35T>G	c.(34-36)GTT>GGT	p.V12G	C15orf23_uc010ucp.1_Missense_Mutation_p.V12G|C15orf23_uc001zlo.2_Missense_Mutation_p.V12G|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	12						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CTGGACAGAGTTTTCCGTACA	0.592												
WDR76	79968	broad.mit.edu	37	15	44127267	44127267	+	Silent	SNP	G	G	A	rs149899666		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:44127267G>A	uc001zti.1	+	3	494	c.471G>A	c.(469-471)TCG>TCA	p.S157S		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	157											0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AGGATTTTTCGGGATTGTCAC	0.338												
SEMA6D	80031	broad.mit.edu	37	15	48051998	48051998	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:48051998G>T	uc010bek.2	+	2	363	c.3G>T	c.(1-3)ATG>ATT	p.M1I	SEMA6D_uc001zvw.2_Missense_Mutation_p.M1I|SEMA6D_uc001zvx.1_Missense_Mutation_p.M1I|SEMA6D_uc001zvy.2_Missense_Mutation_p.M1I|SEMA6D_uc001zvz.2_Missense_Mutation_p.M1I|SEMA6D_uc001zwa.2_Missense_Mutation_p.M1I|SEMA6D_uc001zwb.2_Missense_Mutation_p.M1I|SEMA6D_uc001zwc.2_Missense_Mutation_p.M1I	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	1					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGCCCACCATGAGGGTCTTCC	0.502												
PARP6	56965	broad.mit.edu	37	15	72533830	72533830	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:72533830A>G	uc002auc.2	-	23	2318	c.1859T>C	c.(1858-1860)ATG>ACG	p.M620T	PARP6_uc002aua.2_Missense_Mutation_p.M466T|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	620	PARP catalytic.						NAD+ ADP-ribosyltransferase activity				0						GATCACACGCATGATTTCCTT	0.507												
SCAPER	49855	broad.mit.edu	37	15	77064249	77064249	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:77064249C>T	uc002bby.2	-	9	1141	c.1082G>A	c.(1081-1083)CGA>CAA	p.R361Q	SCAPER_uc002bbx.2_Missense_Mutation_p.R115Q|SCAPER_uc002bbz.1_Missense_Mutation_p.R226Q|SCAPER_uc002bca.1_Missense_Mutation_p.R226Q|SCAPER_uc002bcb.1_Missense_Mutation_p.R361Q|SCAPER_uc002bcc.1_Missense_Mutation_p.R361Q	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	360						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						ATAATTGTCTCGAATACTGCC	0.358												
ZNF592	9640	broad.mit.edu	37	15	85341579	85341579	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:85341579C>G	uc002bld.2	+	7	2946	c.2610C>G	c.(2608-2610)TTC>TTG	p.F870L	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	870					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAATGGTCTTCAACAAGAAGA	0.532												
ALDH1A3	220	broad.mit.edu	37	15	101434165	101434165	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr15:101434165T>G	uc002bwn.3	+	6	648	c.544T>G	c.(544-546)TTC>GTC	p.F182V	ALDH1A3_uc010bpb.2_Intron|uc002bwo.1_RNA	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	182					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GCAGTGGAACTTCCCCCTGCT	0.592												
NAT15	79903	broad.mit.edu	37	16	3533574	3533574	+	Silent	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr16:3533574C>T	uc002cvh.3	+	6	795	c.549C>T	c.(547-549)GGC>GGT	p.G183G	NAT15_uc010uxb.1_Silent_p.G190G|NAT15_uc010btk.1_Silent_p.G118G|NAT15_uc010btl.2_Intron|NAT15_uc010btm.2_Silent_p.G183G|NAT15_uc010uxc.1_Silent_p.G183G|NAT15_uc010uxd.1_Intron|NAT15_uc010uxe.1_Intron|NAT15_uc002cvg.1_Silent_p.G183G	NM_001083601	NP_001077070	Q9H7X0	NAT15_HUMAN	N-acetyltransferase 15	183							N-acetyltransferase activity				0						ACATCAACGGCGGCCACCCTC	0.512												
A2BP1	54715	broad.mit.edu	37	16	7568390	7568390	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr16:7568390C>G	uc002cys.2	+	5	1257	c.269C>G	c.(268-270)ACA>AGA	p.T90R	A2BP1_uc010buf.1_Missense_Mutation_p.T90R|A2BP1_uc002cyr.1_Missense_Mutation_p.T90R|A2BP1_uc002cyt.2_Missense_Mutation_p.T90R|A2BP1_uc010uxz.1_Missense_Mutation_p.T133R|A2BP1_uc010uya.1_Missense_Mutation_p.T126R|A2BP1_uc002cyv.1_Missense_Mutation_p.T90R|A2BP1_uc010uyb.1_Missense_Mutation_p.T90R|A2BP1_uc002cyw.2_Missense_Mutation_p.T110R|A2BP1_uc002cyy.2_Missense_Mutation_p.T110R|A2BP1_uc002cyx.2_Missense_Mutation_p.T110R|A2BP1_uc010uyc.1_Missense_Mutation_p.T110R	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	90					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		GGCACCGCCACAGTAAGTGGA	0.652												
NFATC2IP	84901	broad.mit.edu	37	16	28975126	28975126	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr16:28975126G>A	uc002dru.2	+	8	1217	c.1202G>A	c.(1201-1203)AGG>AAG	p.R401K	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Missense_Mutation_p.R122K|NFATC2IP_uc002drv.2_Missense_Mutation_p.R120K|NFATC2IP_uc010vdh.1_Missense_Mutation_p.R109K	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	401	Ubiquitin-like.					cytoplasm|nucleus				ovary(1)	1						CTTTCAGGCAGGGAGCTGCCA	0.587												
AKTIP	64400	broad.mit.edu	37	16	53529186	53529186	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr16:53529186G>A	uc002ehk.2	-	4	512	c.301C>T	c.(301-303)CGC>TGC	p.R101C	AKTIP_uc002ehl.2_Missense_Mutation_p.R101C|AKTIP_uc002ehm.2_Missense_Mutation_p.R101C|AKTIP_uc010vgx.1_Missense_Mutation_p.R101C	NM_001012398	NP_001012398	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	101					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding				0		all_cancers(37;0.14)				AATGCAGAGCGATAAGATGGC	0.383												
ANKRD11	29123	broad.mit.edu	37	16	89349184	89349184	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr16:89349184G>A	uc002fmx.1	-	9	4227	c.3766C>T	c.(3766-3768)CAC>TAC	p.H1256Y	ANKRD11_uc002fmy.1_Missense_Mutation_p.H1256Y|ANKRD11_uc002fnc.1_Missense_Mutation_p.H1256Y|ANKRD11_uc002fnb.1_Missense_Mutation_p.H1213Y	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1256	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTCTTTGTGTTTGCTTTTA	0.483												
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Silent	SNP	C	C	G	rs55863639		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:7579312C>G	uc002gim.2	-	4	569	c.375G>C	c.(373-375)ACG>ACC	p.T125T	TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	125	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAACTGACCGTGCAAGTCA	0.537		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
ULK2	9706	broad.mit.edu	37	17	19687104	19687104	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:19687104C>T	uc002gwm.3	-	22	2875	c.2366G>A	c.(2365-2367)AGC>AAC	p.S789N	ULK2_uc002gwn.2_Missense_Mutation_p.S789N	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	789					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTATCTCAGGCTGGGAGCTGC	0.647												
SLFN12	55106	broad.mit.edu	37	17	33749727	33749727	+	Silent	SNP	C	C	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:33749727C>G	uc002hji.3	-	2	698	c.321G>C	c.(319-321)GTG>GTC	p.V107V	SLFN12_uc002hjj.3_Silent_p.V107V|SLFN12_uc010cts.2_Silent_p.V107V	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	107							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCATGACTTCACAAAAATCA	0.373												
TBC1D3B	414059	broad.mit.edu	37	17	34497333	34497333	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:34497333C>T	uc002hky.2	-	9	733	c.583G>A	c.(583-585)GCC>ACC	p.A195T	uc002khr.2_5'Flank|uc002hlc.2_5'Flank	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3B	195	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGAACAAGGCGGCGATGTGG	0.602												
SGCA	6442	broad.mit.edu	37	17	48244954	48244954	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:48244954G>A	uc002iqi.2	+	3	205	c.169G>A	c.(169-171)GCT>ACT	p.A57T	SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.2_Missense_Mutation_p.A57T|SGCA_uc010wmi.1_RNA	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	57	Extracellular (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						TGTCCCACCCGCTGTCCACAT	0.697												
CD300LD	100131439	broad.mit.edu	37	17	72578366	72578366	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:72578366G>A	uc002jkz.2	-	3	493	c.464C>T	c.(463-465)CCC>CTC	p.P155L	C17orf77_uc002jla.1_5'Flank	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d precursor	155	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity				0						CCTGGTGAGGGGGCTGCTGGT	0.493												
FAM38B	63895	broad.mit.edu	37	18	10680265	10680265	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr18:10680265T>C	uc002kor.3	-	10	1555	c.1415A>G	c.(1414-1416)CAG>CGG	p.Q472R	FAM38B_uc002koq.2_Missense_Mutation_p.Q307R	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2515						integral to membrane	ion channel activity			ovary(1)	1						TATCATTTTCTGCTTACTGGG	0.378												
NOL4	8715	broad.mit.edu	37	18	31432850	31432850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr18:31432850G>A	uc010dmi.2	-	11	2102	c.1873C>T	c.(1873-1875)CGA>TGA	p.R625*	NOL4_uc010xbs.1_Nonsense_Mutation_p.R340*|NOL4_uc002kxr.3_Nonsense_Mutation_p.R397*|NOL4_uc010xbt.1_Nonsense_Mutation_p.R551*|NOL4_uc010dmh.2_Nonsense_Mutation_p.R487*|NOL4_uc010xbu.1_Nonsense_Mutation_p.R561*|NOL4_uc002kxt.3_Nonsense_Mutation_p.R523*	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	625						nucleolus	RNA binding			ovary(3)	3						TCTGCAGATCGCAATAAAAAT	0.438												
MUC16	94025	broad.mit.edu	37	19	8976841	8976841	+	Silent	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:8976841C>T	uc002mkp.2	-	73	42429	c.42225G>A	c.(42223-42225)AAG>AAA	p.K14075K	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.K875K|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTGTGAGGGTCTTCAGGTGGT	0.537												
MUC16	94025	broad.mit.edu	37	19	8976844	8976844	+	Silent	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:8976844C>T	uc002mkp.2	-	73	42426	c.42222G>A	c.(42220-42222)CTG>CTA	p.L14074L	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.L874L|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	14104	SEA 14.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGAGGGTCTTCAGGTGGTACC	0.542												
EIF3G	8666	broad.mit.edu	37	19	10230359	10230359	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:10230359G>T	uc002mnd.2	-	2	102	c.38C>A	c.(37-39)GCC>GAC	p.A13D	EIF3G_uc010dxa.2_Missense_Mutation_p.A13D|EIF3G_uc010xlb.1_Missense_Mutation_p.A13D	NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	13						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CACCTGGTCGGCCCAACTGGG	0.637											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PGLS	25796	broad.mit.edu	37	19	17628610	17628610	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:17628610G>A	uc002ngw.2	+	4	640	c.590G>A	c.(589-591)CGA>CAA	p.R197Q		NM_012088	NP_036220	O95336	6PGL_HUMAN	6-phosphogluconolactonase	197						cytosol	6-phosphogluconolactonase activity				0						AATGCAGCACGAACTGTCATC	0.572												
C19orf47	126526	broad.mit.edu	37	19	40827891	40827891	+	Silent	SNP	C	C	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:40827891C>A	uc002oni.3	-	9	1168	c.1167G>T	c.(1165-1167)CTG>CTT	p.L389L	C19orf47_uc002ong.2_Silent_p.L248L|C19orf47_uc002onh.2_Silent_p.L322L	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	389										ovary(1)|skin(1)	2			Lung(22;0.000636)			GGGGCCCCACCAGAGTCCTCT	0.647												
SPTBN4	57731	broad.mit.edu	37	19	41063307	41063307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:41063307C>T	uc002ony.2	+	26	5754	c.5668C>T	c.(5668-5670)CAG>TAG	p.Q1890*	SPTBN4_uc002onx.2_Nonsense_Mutation_p.Q1890*|SPTBN4_uc002onz.2_Nonsense_Mutation_p.Q1890*|SPTBN4_uc010egx.2_Nonsense_Mutation_p.Q633*|SPTBN4_uc002ooa.2_Nonsense_Mutation_p.Q566*	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1890	Spectrin 16.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCGTGTCCCAGGTGGGGCG	0.657												
TOMM40	10452	broad.mit.edu	37	19	45406290	45406290	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:45406290C>G	uc002ozx.3	+	10	1051	c.950C>G	c.(949-951)TCT>TGT	p.S317C	TOMM40_uc002ozy.3_Missense_Mutation_p.S317C|TOMM40_uc002paa.3_Missense_Mutation_p.S317C|TOMM40_uc002ozz.2_3'UTR|APOE_uc002pab.2_5'Flank	NM_006114	NP_006105	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40	317					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CCTGCAGGCTCTGTGGATAGC	0.592												
GRLF1	2909	broad.mit.edu	37	19	47423624	47423624	+	Silent	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:47423624T>C	uc010ekv.2	+	1	1692	c.1692T>C	c.(1690-1692)GCT>GCC	p.A564A		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	564					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		GCTGCCCAGCTTGTGTGGACG	0.458												
NLRP8	126205	broad.mit.edu	37	19	56466423	56466423	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr19:56466423G>A	uc002qmh.2	+	3	1070	c.999G>A	c.(997-999)ATG>ATA	p.M333I	NLRP8_uc010etg.2_Missense_Mutation_p.M333I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	333	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TACTGATCATGATAAGATTTA	0.478												
AGBL5	60509	broad.mit.edu	37	2	27293108	27293108	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:27293108C>A	uc002rie.2	+	15	2855	c.2638C>A	c.(2638-2640)CTG>ATG	p.L880M	AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	880					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCCCCCACTGACTGTTTC	0.502												
CEBPZ	10153	broad.mit.edu	37	2	37442041	37442041	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:37442041A>T	uc002rpz.2	-	9	2465	c.2435T>A	c.(2434-2436)GTG>GAG	p.V812E		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	812					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				GTGGAAAAACACTTCATCCAC	0.284												
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809617	48809617	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:48809617T>G	uc010yol.1	+	1	1892	c.1845T>G	c.(1843-1845)ATT>ATG	p.I615M	STON1_uc002rwo.3_Missense_Mutation_p.I615M|STON1_uc010fbm.2_Missense_Mutation_p.I615M|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.I615M|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.I615M	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	615					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AACCTGTCATTCAAGTCACTG	0.448												
LHCGR	3973	broad.mit.edu	37	2	48925793	48925793	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:48925793G>A	uc002rwu.3	-	9	897	c.827C>T	c.(826-828)CCC>CTC	p.P276L	GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	276	Extracellular (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCAGTGGCTGGGGTAAGTCAA	0.418									Familial_Male-Limited_Precocious_Puberty			
WDR33	55339	broad.mit.edu	37	2	128476972	128476972	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:128476972C>T	uc002tpg.1	-	16	2810	c.2627G>A	c.(2626-2628)GGC>GAC	p.G876D		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	876					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTTGCATGCCACCCTGGGG	0.617												
POTEE	445582	broad.mit.edu	37	2	132021412	132021412	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:132021412G>A	uc002tsn.2	+	15	2436	c.2384G>A	c.(2383-2385)CGT>CAT	p.R795H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R395H|POTEE_uc002tsl.2_Missense_Mutation_p.R377H|POTEE_uc010fmy.1_Missense_Mutation_p.R259H	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	795	Actin-like.						ATP binding				0						AACGAGCTGCGTGTGGCTCCC	0.577												
SCN2A	6326	broad.mit.edu	37	2	166179794	166179794	+	Silent	SNP	C	C	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:166179794C>A	uc002udc.2	+	12	2090	c.1800C>A	c.(1798-1800)ACC>ACA	p.T600T	SCN2A_uc002udd.2_Silent_p.T600T|SCN2A_uc002ude.2_Silent_p.T600T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	600					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	AGCACAGCACCTTTGAGGACA	0.557												
XIRP2	129446	broad.mit.edu	37	2	168108240	168108240	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:168108240A>C	uc002udx.2	+	8	10356	c.10338A>C	c.(10336-10338)AAA>AAC	p.K3446N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K3271N|XIRP2_uc010fpq.2_Missense_Mutation_p.K3224N|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3271					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AAGCTGGCAAATCTGGCTGTG	0.403												
OSBPL6	114880	broad.mit.edu	37	2	179247957	179247957	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:179247957G>A	uc002ulx.2	+	17	2206	c.1828G>A	c.(1828-1830)GAG>AAG	p.E610K	OSBPL6_uc002uly.2_Missense_Mutation_p.E635K|OSBPL6_uc010zfe.1_Missense_Mutation_p.E579K|OSBPL6_uc002ulz.2_Missense_Mutation_p.E574K|OSBPL6_uc002uma.2_Missense_Mutation_p.E614K	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	610					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGAATACAGCGAGCTCCTGGA	0.498												
TTN	7273	broad.mit.edu	37	2	179534986	179534986	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:179534986T>G	uc010zfg.1	-	152	31666	c.31442A>C	c.(31441-31443)AAA>ACA	p.K10481T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K7142T|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11408							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)			AACACGTACTTTTTCTTCTAC	0.294												
TTN	7273	broad.mit.edu	37	2	179644744	179644744	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:179644744T>G	uc010zfg.1	-	22	3936	c.3712A>C	c.(3712-3714)ACT>CCT	p.T1238P	TTN_uc010zfh.1_Missense_Mutation_p.T1192P|TTN_uc010zfi.1_Missense_Mutation_p.T1192P|TTN_uc010zfj.1_Missense_Mutation_p.T1192P|TTN_uc002unb.2_Missense_Mutation_p.T1238P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1238							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)			TCTACATAAGTTCTGACCACT	0.269												
ACCN4	55515	broad.mit.edu	37	2	220379473	220379473	+	Silent	SNP	C	C	T	rs144007748		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:220379473C>T	uc002vma.2	+	1	422	c.408C>T	c.(406-408)ATC>ATT	p.I136I	ACCN4_uc010fwi.1_Silent_p.I136I|ACCN4_uc010fwj.1_Silent_p.I136I|ACCN4_uc002vly.1_Silent_p.I136I|ACCN4_uc002vlz.2_Silent_p.I136I|ACCN4_uc002vmb.2_5'Flank	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	136	Cytoplasmic (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		TGTGCAAAATCAAATTTGCTG	0.642												
COL6A3	1293	broad.mit.edu	37	2	238274401	238274401	+	Silent	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:238274401C>T	uc002vwl.2	-	12	6063	c.5778G>A	c.(5776-5778)ACG>ACA	p.T1926T	COL6A3_uc002vwo.2_Silent_p.T1720T|COL6A3_uc010znj.1_Silent_p.T1319T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1926	VWFA 10.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGTGTCCTCCGTGAGGACGT	0.602												
KIF1A	547	broad.mit.edu	37	2	241666280	241666280	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr2:241666280C>T	uc002vzy.2	-	37	3928	c.3782G>A	c.(3781-3783)CGA>CAA	p.R1261Q	KIF1A_uc010fzk.2_Missense_Mutation_p.R1362Q|KIF1A_uc002vzz.1_Missense_Mutation_p.R1370Q|KIF1A_uc002vzw.2_5'Flank|KIF1A_uc002vzx.2_5'Flank	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1261					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GATTTTCTCTCGATAAGGGGT	0.517												
CSNK2A1	1457	broad.mit.edu	37	20	472990	472990	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr20:472990C>T	uc002wdw.1	-	9	922	c.529G>A	c.(529-531)GGT>AGT	p.G177S	CSNK2A1_uc002wdx.1_Missense_Mutation_p.G177S|CSNK2A1_uc002wdy.1_Missense_Mutation_p.G41S	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	177	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TCAGCCAAACCCCAGTCTATT	0.398												
SIGLEC1	6614	broad.mit.edu	37	20	3683946	3683946	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr20:3683946G>A	uc002wja.2	-	5	1126	c.1126C>T	c.(1126-1128)CGG>TGG	p.R376W	SIGLEC1_uc002wiz.3_Missense_Mutation_p.R376W|SIGLEC1_uc002wjc.2_Missense_Mutation_p.R287W	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	376	Extracellular (Potential).|Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						AAGTGCAGCCGGAGGGTATGG	0.582												
ADA	100	broad.mit.edu	37	20	43251555	43251555	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr20:43251555T>A	uc002xmj.2	-	8	823	c.695A>T	c.(694-696)AAG>ATG	p.K232M	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	232					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CCGCTCTGTCTTGAGTATGTC	0.582									Adenosine_Deaminase_Deficiency			
NCOA3	8202	broad.mit.edu	37	20	46254223	46254223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr20:46254223C>T	uc002xtk.2	+	5	560	c.355C>T	c.(355-357)CAG>TAG	p.Q119*	NCOA3_uc010ght.1_Nonsense_Mutation_p.Q119*|NCOA3_uc002xtl.2_Nonsense_Mutation_p.Q119*|NCOA3_uc002xtm.2_Nonsense_Mutation_p.Q119*|NCOA3_uc002xtn.2_Nonsense_Mutation_p.Q119*|NCOA3_uc010zyc.1_5'Flank	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	119	PAS.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						GCTTTTACTTCAGGCAAGTAT	0.343												
ZNF831	128611	broad.mit.edu	37	20	57829420	57829420	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr20:57829420A>C	uc002yan.2	+	5	4656	c.4656A>C	c.(4654-4656)AGA>AGC	p.R1552S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1552						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CTGGACAAAGAATTTCAGATT	0.498												
KRTAP15-1	254950	broad.mit.edu	37	21	31812843	31812843	+	Silent	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr21:31812843T>G	uc002yod.2	+	1	198	c.198T>G	c.(196-198)ACT>ACG	p.T66T		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	66						intermediate filament					0						CATCCTGCACTTTGGCCAGAT	0.502												
CCT8L2	150160	broad.mit.edu	37	22	17072656	17072656	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr22:17072656G>T	uc002zlp.1	-	1	1045	c.785C>A	c.(784-786)TCT>TAT	p.S262Y		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	262					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGCAGGACTAGAAAGACGGGC	0.507												
ZNF74	7625	broad.mit.edu	37	22	20759891	20759891	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr22:20759891C>T	uc010gsm.2	+	6	780	c.568C>T	c.(568-570)CGC>TGC	p.R190C	ZNF74_uc002zsg.2_Missense_Mutation_p.R119C|ZNF74_uc002zsh.2_Missense_Mutation_p.R190C|ZNF74_uc002zsi.2_Missense_Mutation_p.R119C|ZNF74_uc010gsn.2_Missense_Mutation_p.R119C	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	190					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGCCCAGCAACGCGTTCCCGA	0.667												
RTDR1	27156	broad.mit.edu	37	22	23401693	23401693	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr22:23401693C>A	uc002zwt.2	-	7	1152	c.994G>T	c.(994-996)GCC>TCC	p.A332S		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	332							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CGCTGTAAGGCTTCGGCCACT	0.577												
VPREB3	29802	broad.mit.edu	37	22	24095278	24095278	+	Missense_Mutation	SNP	C	C	T	rs143409128	by1000genomes	TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr22:24095278C>T	uc002zxt.2	-	2	237	c.157G>A	c.(157-159)GGT>AGT	p.G53S	ZNF70_uc002zxs.2_5'Flank	NM_013378	NP_037510	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3 precursor	53	Ig-like.					endoplasmic reticulum					0		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				CAGGACACACCGTAGTCCCTG	0.637												
SMARCB1	6598	broad.mit.edu	37	22	24135870	24135870	+	Silent	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr22:24135870C>T	uc002zyb.2	+	3	564	c.357C>T	c.(355-357)TAC>TAT	p.Y119Y	SMARCB1_uc002zyg.2_Silent_p.Y119Y|SMARCB1_uc011ajb.1_Silent_p.Y110Y|SMARCB1_uc002zya.2_Silent_p.Y119Y|SMARCB1_uc002zyc.2_Silent_p.Y110Y|SMARCB1_uc002zyd.2_Silent_p.Y110Y|SMARCB1_uc002zye.1_Silent_p.Y82Y|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	119	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.Y119fs*1(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CCCCCACCTACCTCAGGTAAT	0.512			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis			
NAGA	4668	broad.mit.edu	37	22	42458845	42458845	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr22:42458845G>T	uc003bbx.2	-	8	1080	c.943C>A	c.(943-945)CGC>AGC	p.R315S	NAGA_uc003bby.2_Missense_Mutation_p.R315S|NAGA_uc003bbw.3_Missense_Mutation_p.R315S	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	315					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						TGAATCCTGCGTCCCTGGATG	0.557												
CAMK1	8536	broad.mit.edu	37	3	9804849	9804849	+	Silent	SNP	C	C	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:9804849C>A	uc003bst.2	-	4	442	c.264G>T	c.(262-264)GGG>GGT	p.G88G	OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	88	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		AGAGGTGGCCCCCACTCTCAT	0.483												
ATG7	10533	broad.mit.edu	37	3	11340313	11340313	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:11340313G>T	uc003bwc.2	+	2	261	c.144G>T	c.(142-144)AAG>AAT	p.K48N	ATG7_uc003bwd.2_Missense_Mutation_p.K48N|ATG7_uc011aum.1_Missense_Mutation_p.K48N	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	48					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						AGGACATTAAGGGTTATTACT	0.428												
CAPN7	23473	broad.mit.edu	37	3	15292720	15292720	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:15292720T>A	uc003bzn.2	+	21	2665	c.2395T>A	c.(2395-2397)TTG>ATG	p.L799M	uc003bzo.1_5'Flank	NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	799	Domain N.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1						ACCTTTTTTCTTGGACTTTAA	0.358												
TRIM71	131405	broad.mit.edu	37	3	32932136	32932136	+	Silent	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:32932136C>T	uc003cff.2	+	4	1503	c.1440C>T	c.(1438-1440)AGC>AGT	p.S480S		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	480	Filamin.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						TTGTTAGCAGCGGGGCCTTTG	0.592												
GOLGA4	2803	broad.mit.edu	37	3	37366613	37366613	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:37366613A>G	uc003cgv.2	+	14	3540	c.3236A>G	c.(3235-3237)AAG>AGG	p.K1079R	GOLGA4_uc010hgr.1_Missense_Mutation_p.K640R|GOLGA4_uc003cgw.2_Missense_Mutation_p.K1101R|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.K960R	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1079	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						CTGAAACAAAAGATCCTCCTA	0.358												
XCR1	2829	broad.mit.edu	37	3	46063301	46063301	+	Missense_Mutation	SNP	C	C	G	rs150654881		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:46063301C>G	uc003cpe.2	-	3	363	c.139G>C	c.(139-141)GTG>CTG	p.V47L	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.V47L	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	47	Helical; Name=1; (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTGTTGCCCACTAGGCTGAGG	0.557												
ABI3BP	25890	broad.mit.edu	37	3	100494156	100494156	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:100494156T>G	uc003dun.2	-	27	2309	c.2224A>C	c.(2224-2226)ACT>CCT	p.T742P	ABI3BP_uc003duj.2_Missense_Mutation_p.T322P|ABI3BP_uc003duk.2_Missense_Mutation_p.T451P|ABI3BP_uc003dul.2_Missense_Mutation_p.T572P|ABI3BP_uc011bhd.1_Missense_Mutation_p.T696P|ABI3BP_uc003dum.2_Missense_Mutation_p.T153P	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	742	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						GGTGGTGTAGTTATTGGGCCT	0.418												
SENP7	57337	broad.mit.edu	37	3	101051685	101051685	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:101051685T>G	uc003dut.2	-	18	2613	c.2502A>C	c.(2500-2502)AAA>AAC	p.K834N	SENP7_uc003duu.2_Missense_Mutation_p.K769N|SENP7_uc003duv.2_Missense_Mutation_p.K801N|SENP7_uc003duw.2_Missense_Mutation_p.K768N|SENP7_uc003dux.2_Missense_Mutation_p.K670N|SENP7_uc003dus.2_Missense_Mutation_p.K22N	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	834	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TTCTTACTCTTTTATGTCTTC	0.279												
SENP7	57337	broad.mit.edu	37	3	101051696	101051696	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:101051696T>C	uc003dut.2	-	18	2602	c.2491A>G	c.(2491-2493)AGA>GGA	p.R831G	SENP7_uc003duu.2_Missense_Mutation_p.R766G|SENP7_uc003duv.2_Missense_Mutation_p.R798G|SENP7_uc003duw.2_Missense_Mutation_p.R765G|SENP7_uc003dux.2_Missense_Mutation_p.R667G|SENP7_uc003dus.2_Missense_Mutation_p.R19G	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	831	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TTATGTCTTCTCTGTGCCATT	0.279												
SENP7	57337	broad.mit.edu	37	3	101062680	101062680	+	Silent	SNP	A	A	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:101062680A>C	uc003dut.2	-	14	2067	c.1956T>G	c.(1954-1956)TCT>TCG	p.S652S	SENP7_uc003duu.2_Silent_p.S587S|SENP7_uc003duv.2_Silent_p.S619S|SENP7_uc003duw.2_Silent_p.S586S|SENP7_uc003dux.2_Silent_p.S488S	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	652					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						ACAACGGGTAAGAAAGCTCTA	0.343												
EIF4G1	1981	broad.mit.edu	37	3	184045790	184045790	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr3:184045790G>A	uc003fnp.2	+	26	4151	c.3953G>A	c.(3952-3954)GGG>GAG	p.G1318E	EIF4G1_uc003fnt.2_Missense_Mutation_p.G1029E|EIF4G1_uc003fnq.2_Missense_Mutation_p.G1231E|EIF4G1_uc003fnr.2_Missense_Mutation_p.G1154E|EIF4G1_uc010hxx.2_Missense_Mutation_p.G1325E|EIF4G1_uc003fns.2_Missense_Mutation_p.G1278E|EIF4G1_uc010hxy.2_Missense_Mutation_p.G1325E|EIF4G1_uc003fnv.3_Missense_Mutation_p.G1319E|EIF4G1_uc003fnu.3_Missense_Mutation_p.G1318E|EIF4G1_uc003fnw.2_Missense_Mutation_p.G1325E|EIF4G1_uc003fnx.2_Missense_Mutation_p.G1123E|EIF4G1_uc003fny.3_Missense_Mutation_p.G1122E|EIF4G1_uc003foa.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1318	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACTACCAAGGGTATGACCAG	0.527												
JAKMIP1	152789	broad.mit.edu	37	4	6043885	6043885	+	Splice_Site	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:6043885C>T	uc010idb.1	-	17	2583	c.2097_splice	c.e17+1	p.K699_splice	JAKMIP1_uc010idc.1_Splice_Site_p.K514_splice|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein						protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						AAATCTTTTACCTTCTCCTTC	0.527												
PDS5A	23244	broad.mit.edu	37	4	39921961	39921961	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:39921961G>C	uc003guv.3	-	7	1253	c.713C>G	c.(712-714)ACT>AGT	p.T238S	PDS5A_uc010ifo.2_Missense_Mutation_p.T198S|PDS5A_uc003guw.3_Missense_Mutation_p.T238S	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	238					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						TGCCTCAATAGTCTGGACTGT	0.264												
GABRA4	2557	broad.mit.edu	37	4	46979471	46979471	+	Silent	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:46979471C>T	uc003gxg.2	-	4	589	c.450G>A	c.(448-450)AAG>AAA	p.K150K		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	150	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCTAAAAAGCTTATTTGGAG	0.254												
TMPRSS11F	389208	broad.mit.edu	37	4	68919748	68919748	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:68919748T>G	uc003hdt.1	-	10	1245	c.1196A>C	c.(1195-1197)GAC>GCC	p.D399A	LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	399	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						GTACCAGATGTCATGATTATC	0.358												
LEF1	51176	broad.mit.edu	37	4	109088797	109088797	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:109088797G>A	uc003hyt.1	-	1	782	c.127C>T	c.(127-129)CAT>TAT	p.H43Y	LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.1_5'Flank|LEF1_uc003hyu.1_Missense_Mutation_p.H43Y|LEF1_uc003hyv.1_Missense_Mutation_p.H43Y|LEF1_uc010imb.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	43	CTNNB1-binding (By similarity).|Asp/Glu-rich (acidic).				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCTTCGGGATGACTGATCTCG	0.597												
DCHS2	54798	broad.mit.edu	37	4	155156977	155156977	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:155156977G>T	uc003inw.2	-	25	7462	c.7462C>A	c.(7462-7464)CTA>ATA	p.L2488I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2488	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTTTTTATTAGGGGAAGGGCT	0.353												
ANXA10	11199	broad.mit.edu	37	4	169108527	169108527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr4:169108527C>A	uc003irm.2	+	12	1062	c.917C>A	c.(916-918)TCA>TAA	p.S306*	ANXA10_uc003irn.2_Nonsense_Mutation_p.S178*	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	annexin A10	306	Annexin 4.						calcium ion binding|calcium-dependent phospholipid binding				0		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AATTTTGCTTCAGGGCATTAT	0.353												
PRDM9	56979	broad.mit.edu	37	5	23509147	23509147	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:23509147G>A	uc003jgo.2	+	2	187	c.5G>A	c.(4-6)AGC>AAC	p.S2N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	2					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGCACCATGAGCCCTGAAAAG	0.567										HNSCC(3;0.000094)		
ADAMTS12	81792	broad.mit.edu	37	5	33637846	33637846	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:33637846T>C	uc003jia.1	-	12	1887	c.1724A>G	c.(1723-1725)AAG>AGG	p.K575R	ADAMTS12_uc010iuq.1_Missense_Mutation_p.K575R	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	575	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CCCTCCAAACTTTGGCCTGCA	0.463										HNSCC(64;0.19)		
CAPSL	133690	broad.mit.edu	37	5	35921154	35921154	+	Silent	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:35921154G>A	uc003jjt.1	-	2	164	c.69C>T	c.(67-69)ACC>ACT	p.T23T	CAPSL_uc003jju.1_Silent_p.T23T	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	23						cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CAATGGGGTCGGTGGCCGTGG	0.587												
MSH3	4437	broad.mit.edu	37	5	80083395	80083395	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:80083395A>G	uc003kgz.2	+	18	2700	c.2447A>G	c.(2446-2448)GAA>GGA	p.E816G		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	816					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AAATTCAGTGAACATTATCAC	0.418								MMR				
RASGRF2	5924	broad.mit.edu	37	5	80409671	80409671	+	Missense_Mutation	SNP	C	C	T	rs111424797	byFrequency	TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:80409671C>T	uc003kha.1	+	15	2402	c.2402C>T	c.(2401-2403)ACG>ATG	p.T801M	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	801					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGCCCGGGAACGGTAGAAGAG	0.498												
MCTP1	79772	broad.mit.edu	37	5	94353092	94353092	+	Silent	SNP	A	A	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:94353092A>G	uc003kkx.2	-	2	817	c.817T>C	c.(817-819)TTA>CTA	p.L273L	MCTP1_uc003kkv.2_Silent_p.L52L|MCTP1_uc003kkw.2_Silent_p.L52L|MCTP1_uc003kkz.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	273	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CGAGCAGCTAAACTTTGACCC	0.423												
LNPEP	4012	broad.mit.edu	37	5	96332176	96332176	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:96332176C>G	uc003kmv.1	+	7	2004	c.1490C>G	c.(1489-1491)TCT>TGT	p.S497C	LNPEP_uc003kmw.1_Missense_Mutation_p.S483C	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	497	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAGTATTTCTCTTTGGAAAAA	0.383												
CHD1	1105	broad.mit.edu	37	5	98236677	98236677	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:98236677G>A	uc003knf.2	-	6	845	c.697C>T	c.(697-699)CGT>TGT	p.R233C		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	233					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GCTTGGCGACGAGAACTTCTT	0.368												
ATP10B	23120	broad.mit.edu	37	5	160033905	160033905	+	Silent	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:160033905T>C	uc003lym.1	-	19	3874	c.3027A>G	c.(3025-3027)GGA>GGG	p.G1009G	ATP10B_uc010jit.1_Silent_p.G326G	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1009	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCTAGCTTTCCCTGGAAGA	0.512												
DDX41	51428	broad.mit.edu	37	5	176941765	176941765	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr5:176941765A>G	uc003mho.2	-	9	893	c.872T>C	c.(871-873)CTC>CCC	p.L291P	DDX41_uc003mhm.2_Missense_Mutation_p.L71P|DDX41_uc003mhn.2_Missense_Mutation_p.L160P|DDX41_uc003mhp.2_Missense_Mutation_p.L160P|DDX41_uc003mhq.1_Missense_Mutation_p.L71P	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	291	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCAGCGCAGGAGTGGTGAGCT	0.657												
TNXB	7148	broad.mit.edu	37	6	32026099	32026099	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr6:32026099C>T	uc003nzl.2	-	22	7763	c.7561G>A	c.(7561-7563)GAG>AAG	p.E2521K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2581					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						AGAGGCTCCTCGGGGGGCCCT	0.617												
TMEM63B	55362	broad.mit.edu	37	6	44116537	44116537	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr6:44116537T>G	uc003owr.2	+	15	1332	c.1268T>G	c.(1267-1269)CTC>CGC	p.L423R	TMEM63B_uc003owq.1_Missense_Mutation_p.L423R|TMEM63B_uc003ows.2_Missense_Mutation_p.L326R|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	423						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGGGAGCACCTCTCCATCCGA	0.592												
BEND3	57673	broad.mit.edu	37	6	107391848	107391848	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr6:107391848C>T	uc003prs.2	-	5	1197	c.547G>A	c.(547-549)GGG>AGG	p.G183R		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	183										ovary(3)	3						GTGCCTGCCCCGGTGCTGCCA	0.562												
IL22RA2	116379	broad.mit.edu	37	6	137476153	137476153	+	Missense_Mutation	SNP	C	C	T	rs150492179		TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr6:137476153C>T	uc003qhl.2	-	5	698	c.397G>A	c.(397-399)GGG>AGG	p.G133R	IL22RA2_uc003qhm.2_Missense_Mutation_p.G101R|IL22RA2_uc003qhn.2_Missense_Mutation_p.G101R	NM_052962	NP_443194	Q969J5	I22R2_HUMAN	interleukin 22-binding protein isoform 1	133	Fibronectin type-III 2.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		CTCACCCTCCCGTAATAAGGT	0.512												
SYNE1	23345	broad.mit.edu	37	6	152777106	152777106	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr6:152777106T>A	uc010kiw.2	-	23	3244	c.2642A>T	c.(2641-2643)AAG>ATG	p.K881M	SYNE1_uc003qot.3_Missense_Mutation_p.K888M|SYNE1_uc003qou.3_Missense_Mutation_p.K881M|SYNE1_uc010kjb.1_Missense_Mutation_p.K864M|SYNE1_uc003qow.2_Missense_Mutation_p.K176M|SYNE1_uc003qox.1_Missense_Mutation_p.K397M|SYNE1_uc003qoz.2_Missense_Mutation_p.K313M|SYNE1_uc003qoy.2_Missense_Mutation_p.K448M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	881	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTCACAAACTTTTGAACACT	0.383										HNSCC(10;0.0054)		
FERD3L	222894	broad.mit.edu	37	7	19184940	19184940	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr7:19184940A>G	uc003suo.1	-	1	105	c.46T>C	c.(46-48)TTC>CTC	p.F16L	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	16					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						TCTGCGACGAAGTCCAGCACC	0.682												
C7orf25	79020	broad.mit.edu	37	7	42949301	42949301	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr7:42949301A>T	uc003thw.2	-	2	1663	c.1199T>A	c.(1198-1200)CTT>CAT	p.L400H	C7orf25_uc010kxq.2_Missense_Mutation_p.L400H|C7orf25_uc003thx.3_Missense_Mutation_p.L458H|C7orf25_uc010kxr.2_Missense_Mutation_p.L458H	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	400										skin(1)	1						ACTCTCAGTAAGTGCTCTGGG	0.408												
ADCY1	107	broad.mit.edu	37	7	45632384	45632384	+	Silent	SNP	C	C	T	rs149960050	byFrequency	TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr7:45632384C>T	uc003tne.3	+	2	684	c.666C>T	c.(664-666)GTC>GTT	p.V222V	ADCY1_uc003tnd.2_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	222	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCTCTTCGTCGGTGTGAACA	0.597												
GIGYF1	64599	broad.mit.edu	37	7	100285026	100285026	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr7:100285026C>T	uc003uwg.1	-	5	1386	c.377G>A	c.(376-378)CGC>CAC	p.R126H		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	126										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					ACCACGGCCGCGGCCTAGAGA	0.607												
MUC17	140453	broad.mit.edu	37	7	100684635	100684635	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr7:100684635C>A	uc003uxp.1	+	3	9991	c.9938C>A	c.(9937-9939)ACC>AAC	p.T3313N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3313	Extracellular (Potential).|54.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACCTGTGACCACTTATTCT	0.478												
CSMD1	64478	broad.mit.edu	37	8	3256965	3256965	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:3256965C>T	uc011kwk.1	-	16	2746	c.2356G>A	c.(2356-2358)GAA>AAA	p.E786K	CSMD1_uc011kwj.1_Missense_Mutation_p.E178K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	786	Extracellular (Potential).|CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTATCCATTCACAATGTAAA	0.408												
SH2D4A	63898	broad.mit.edu	37	8	19192368	19192368	+	Silent	SNP	A	A	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:19192368A>C	uc003wzb.2	+	4	849	c.513A>C	c.(511-513)CGA>CGC	p.R171R	SH2D4A_uc011kym.1_Silent_p.R126R|SH2D4A_uc003wzc.2_Silent_p.R171R	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	171						cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)		AGAAAATCCGAGTGAGTCCTT	0.493												
INTS10	55174	broad.mit.edu	37	8	19700363	19700363	+	Silent	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:19700363G>A	uc003wzj.2	+	14	1775	c.1644G>A	c.(1642-1644)TCG>TCA	p.S548S		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	548					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGTTAGGTTCGGATCTGAAGC	0.373												
CYP7A1	1581	broad.mit.edu	37	8	59407090	59407090	+	Silent	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:59407090T>C	uc003xtm.3	-	4	1077	c.1014A>G	c.(1012-1014)GCA>GCG	p.A338A		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	338					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CATTCAGTTCTGCTTGACTCA	0.338									Neonatal_Giant_Cell_Hepatitis			
CYP7B1	9420	broad.mit.edu	37	8	65509449	65509449	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:65509449T>G	uc003xvj.2	-	6	1475	c.1271A>C	c.(1270-1272)AAG>ACG	p.K424T		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	424					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GGTGGTTTTCTTCTTACCATC	0.348												
ANGPT1	284	broad.mit.edu	37	8	108334272	108334272	+	Silent	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:108334272T>C	uc003ymn.2	-	4	1128	c.660A>G	c.(658-660)CAA>CAG	p.Q220Q	ANGPT1_uc011lhv.1_Silent_p.Q20Q|ANGPT1_uc003ymo.2_Silent_p.Q220Q|ANGPT1_uc003ymp.3_Silent_p.Q20Q	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	220	Potential.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TAACCAAGCCTTGAAGGTTCT	0.393												
PLEC	5339	broad.mit.edu	37	8	144995359	144995359	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr8:144995359G>A	uc003zaf.1	-	32	9211	c.9041C>T	c.(9040-9042)ACG>ATG	p.T3014M	PLEC_uc003zab.1_Missense_Mutation_p.T2877M|PLEC_uc003zac.1_Missense_Mutation_p.T2881M|PLEC_uc003zad.2_Missense_Mutation_p.T2877M|PLEC_uc003zae.1_Missense_Mutation_p.T2845M|PLEC_uc003zag.1_Missense_Mutation_p.T2855M|PLEC_uc003zah.2_Missense_Mutation_p.T2863M|PLEC_uc003zaj.2_Missense_Mutation_p.T2904M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3014	Globular 2.|Plectin 5.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCACAGGCCCGTCTCGGGGTC	0.647												
MPDZ	8777	broad.mit.edu	37	9	13188944	13188944	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:13188944G>A	uc010mia.1	-	16	2260	c.2203C>T	c.(2203-2205)CCT>TCT	p.P735S	MPDZ_uc010mhy.2_Missense_Mutation_p.P735S|MPDZ_uc010mhz.2_Missense_Mutation_p.P735S|MPDZ_uc011lmn.1_Missense_Mutation_p.P735S|MPDZ_uc003zlb.3_Missense_Mutation_p.P735S	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	735	PDZ 5.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGCCGCCAGGCACCAAAGAA	0.428												
RUSC2	9853	broad.mit.edu	37	9	35546783	35546783	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:35546783C>T	uc003zww.2	+	2	520	c.265C>T	c.(265-267)CGG>TGG	p.R89W	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R89W	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	89						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAGTAGGAGTCGGGATGGAAG	0.562												
VPS13A	23230	broad.mit.edu	37	9	79952416	79952416	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:79952416G>A	uc004akr.2	+	47	6601	c.6341G>A	c.(6340-6342)CGA>CAA	p.R2114Q	VPS13A_uc004akp.3_Missense_Mutation_p.R2114Q|VPS13A_uc004akq.3_Missense_Mutation_p.R2114Q|VPS13A_uc004aks.2_Missense_Mutation_p.R2075Q|VPS13A_uc004akt.2_Missense_Mutation_p.R454Q	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2114					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						ATCCTGCTCCGAAATCTTCTT	0.333												
NTRK2	4915	broad.mit.edu	37	9	87482253	87482253	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:87482253C>T	uc004aoa.1	+	15	2430	c.1492C>T	c.(1492-1494)CCA>TCA	p.P498S	NTRK2_uc004any.1_Missense_Mutation_p.P498S|NTRK2_uc004anz.1_Missense_Mutation_p.P514S|NTRK2_uc011lsz.1_Missense_Mutation_p.P514S|NTRK2_uc011lta.1_Missense_Mutation_p.P498S|NTRK2_uc004aoc.2_Missense_Mutation_p.P49S	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	498	Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GGAAGGTGGCCCAGATGCTGT	0.493										TSP Lung(25;0.17)		
ABCA1	19	broad.mit.edu	37	9	107568522	107568522	+	Silent	SNP	T	T	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:107568522T>C	uc004bcl.2	-	31	4777	c.4464A>G	c.(4462-4464)CAA>CAG	p.Q1488Q		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1488	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTGACTCACTTGTGGAGGAG	0.567												
ASTN2	23245	broad.mit.edu	37	9	119488112	119488112	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:119488112G>T	uc004bjs.1	-	16	2845	c.2744C>A	c.(2743-2745)ACC>AAC	p.T915N	ASTN2_uc004bjr.1_Missense_Mutation_p.T911N|ASTN2_uc004bjt.1_Missense_Mutation_p.T864N	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	915	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GATGATGCAGGTGAGCTCTGA	0.572												
WDR38	401551	broad.mit.edu	37	9	127619662	127619662	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:127619662A>G	uc004box.2	+	8	844	c.788A>G	c.(787-789)AAC>AGC	p.N263S	WDR38_uc011lzn.1_Missense_Mutation_p.N252S|WDR38_uc011lzo.1_Missense_Mutation_p.N263S|WDR38_uc011lzp.1_Missense_Mutation_p.N214S	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	263	WD 6.										0						TGGGACTGCAACACAGGAAAG	0.592												
SCAI	286205	broad.mit.edu	37	9	127765441	127765441	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr9:127765441G>C	uc004bpe.2	-	11	1098	c.1017C>G	c.(1015-1017)TAC>TAG	p.Y339*	SCAI_uc004bpd.2_Nonsense_Mutation_p.Y362*|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	339					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5						AGGTTGGTTTGTAGAGCAGAT	0.393												
RPS6KA6	27330	broad.mit.edu	37	X	83357064	83357064	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chrX:83357064G>T	uc004eej.1	-	18	1834	c.1757C>A	c.(1756-1758)GCA>GAA	p.A586E	RPS6KA6_uc011mqt.1_Missense_Mutation_p.A586E|RPS6KA6_uc011mqu.1_Missense_Mutation_p.A483E	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	586	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						AACAAAGTTTGCAGTGTAGCA	0.373												
IL13RA2	3598	broad.mit.edu	37	X	114239848	114239848	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chrX:114239848C>T	uc004epx.2	-	9	1153	c.1028G>A	c.(1027-1029)CGT>CAT	p.R343H	IL13RA2_uc010nqd.1_Missense_Mutation_p.R343H	NM_000640	NP_000631	Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2 precursor	343	Extracellular (Potential).					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						TAGCCAGAAACGTAGCAAAGT	0.358												
TFDP3	51270	broad.mit.edu	37	X	132351941	132351941	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chrX:132351941A>G	uc004exb.1	-	1	436	c.347T>C	c.(346-348)ATG>ACG	p.M116T		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	116	Potential.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CCAGACCTTCATGGAAAGACG	0.587												
UBE2NL	389898	broad.mit.edu	37	X	142967341	142967341	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chrX:142967341C>G	uc004fca.2	+	1	169	c.139C>G	c.(139-141)CCC>GCC	p.P47A		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	47							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGGATTCCCCCTTTGAGGG	0.453												
ZNF187	7741	broad.mit.edu	37	6	28244679	28244699	+	In_Frame_Del	DEL	ATTCATACTGGAGAAAAACCT	ATTCATACTGGAGAAAAACCT	-			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr6:28244678_28244698AATTCATACTGGAGAAAAACCT>A	uc011dlc.2	+	4	1512_1532	c.1242_1262AATTCATACTGGAGAAAAACCT>A	c.(1240-1263)agaattcatactggagaaaaacct>agAt	p.IHTGEKP415del	ZNF187_uc003nku.4_In_Frame_Del_p.IHTGEKP281del|ZNF187_uc003nkw.4_In_Frame_Del_p.IHTGEKP262del|ZNF187_uc011dle.2_In_Frame_Del_p.IHTGEKP262del|ZNF187_uc011dlf.2_In_Frame_Del_p.IHTGEKP207del|ZNF187_uc011dld.2_In_Frame_Del_p.IHTGEKP414del|ZNF187_uc011dlg.2_In_Frame_Del_p.IHTGEKP262del	NM_001023560	NP_001018854	Q16670	ZN187_HUMAN	Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA.	415					viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										GACACCACAGAATTCATACTGGAGAAAAACCTTTCAAGTGT	0.416												
LIPF	8513	broad.mit.edu	37	10	90427330	90427331	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr10:90427329_90427330C>CA	uc001kfg.2	+	2	223_224	c.109_110C>CA	c.(109-111)cagfs	p.Q37fs	LIPF_uc009xtk.3_Frame_Shift_Ins_p.Q37fs|LIPF_uc001kfh.2_Frame_Shift_Ins_p.Q47fs|LIPF_uc010qmt.2_Frame_Shift_Ins_p.Q47fs|LIPF_uc010qmu.2_Frame_Shift_Ins_p.Q37fs	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	37					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	p.Q37*(2)|p.Q47*(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TCCTCAGAGTCAGATGATTACT	0.272												
PKP3	11187	broad.mit.edu	37	11	404061	404061	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr11:404060_404060GC>G	uc021qbk.1	+	11	2269	c.2240_2240GC>G	c.(2239-2241)agcfs	p.S747fs	PKP3_uc001lpc.3_Frame_Shift_Del_p.S732fs	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	732					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGTGGCCAGCCCCATCGCT	0.612												
ABCA5	23461	broad.mit.edu	37	17	67260957	67260958	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chr17:67260956_67260957T>TA	uc002jif.2	-	22	4452_4453	c.3234_3235A>TA	c.(3232-3237)tttatcfs	p.F1078fs	ABCA5_uc002jib.2_Frame_Shift_Ins_p.F44fs|ABCA5_uc002jic.2_Frame_Shift_Ins_p.F301fs|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Ins_p.F1078fs	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1078					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATAAGAATGATAAAAAATAAGG	0.307												
FMR1	2332	broad.mit.edu	37	X	147007109	147007115	+	Frame_Shift_Del	DEL	TGTAGGT	TGTAGGT	-			TCGA-D7-5579-01A-01D-1600-08	TCGA-D7-5579-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3db3b7b1-da1d-4b9c-a92a-c60fecf4328c	865f246b-0e3f-46b7-8112-6c1475198b42	g.chrX:147007108_147007114CTGTAGGT>C	uc010nst.3	+	2	384_390	c.155_161CTGTAGGT>C	c.(154-162)cctgtaggtfs	p.P52fs	FMR1_uc011mwz.2_Frame_Shift_Del_p.P52fs|FMR1_uc004fcj.3_Frame_Shift_Del_p.P52fs|FMR1_uc022cgc.1_Frame_Shift_Del_p.P52fs|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Frame_Shift_Del_p.P52fs|FMR1_uc022cge.1_Frame_Shift_Del_p.P52fs|FMR1_uc022cgf.1_Frame_Shift_Del_p.P52fs|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	52					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCACCTCCTGTAGGTTATAATAAA	0.353									Fragile X syndrome