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
CYP4X1	260293	broad.mit.edu	37	1	47498961	47498961	+	Missense_Mutation	SNP	G	G	A	rs116257861	by1000genomes	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:47498961G>A	uc001cqt.3	+	3	663	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CYP4X1_uc001cqr.3_Missense_Mutation_p.R137H|CYP4X1_uc001cqs.3_Missense_Mutation_p.R73H	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	138						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CAGCATCGTCGCCTACTAACT	0.428												
CREB3L4	148327	broad.mit.edu	37	1	153941905	153941905	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:153941905G>A	uc001fdm.1	+	3	785	c.517G>A	c.(517-519)Gta>Ata	p.V173I	SLC39A1_uc001fdl.3_5'Flank|CREB3L4_uc001fdn.3_Missense_Mutation_p.V173I|CREB3L4_uc010pef.1_Missense_Mutation_p.V26I|CREB3L4_uc001fdo.3_Missense_Mutation_p.V153I|CREB3L4_uc010peg.1_3'UTR|CREB3L4_uc001fdr.2_Missense_Mutation_p.V173I|CREB3L4_uc001fdq.2_Missense_Mutation_p.V153I	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.	173					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGCAGGCACCGTAGCCCCAGT	0.532												
TOR1AIP1	26092	broad.mit.edu	37	1	179886766	179886766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:179886766C>T	uc001gnq.3	+	9	1362	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	382						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GTACCAAGGTCAAGATGAGAA	0.443												
LAMC1	3915	broad.mit.edu	37	1	183087214	183087214	+	Silent	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:183087214T>C	uc001gpy.4	+	10	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	641	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P641P(2)|p.P641L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTTACCCCTTTTGAATTTC	0.418												
PPFIA4	8497	broad.mit.edu	37	1	203014509	203014509	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:203014509G>A	uc009xaj.3	+	10	1121	c.1121G>A	c.(1120-1122)cGg>cAg	p.R374Q	PPFIA4_uc010pqf.2_5'UTR			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	144	SAM 1.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GATACGGGCCGGGTAGAGGAG	0.602												
SLC45A3	2005	broad.mit.edu	37	1	205589407	205589407	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:205589407G>A	uc001hcy.2	-	2	2017	c.767C>T	c.(766-768)tCg>tTg	p.S256L	SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.S256L	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGGTATGGACGAAATGGGTGG	0.522			T	"""ETV1, ETV5, ELK4, ERG"""	prostate							
MRPL55	128308	broad.mit.edu	37	1	228294495	228294495	+	Missense_Mutation	SNP	C	C	T	rs145809265		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:228294495C>T	uc001hrz.4	-	5	750	c.461G>A	c.(460-462)cGc>cAc	p.R154H	MRPL55_uc001hsg.4_Missense_Mutation_p.R118H|MRPL55_uc009xex.3_Missense_Mutation_p.R118H|MRPL55_uc001hsa.4_Missense_Mutation_p.R118H|MRPL55_uc001hsb.4_Missense_Mutation_p.R118H|MRPL55_uc001hsc.4_Missense_Mutation_p.R118H|MRPL55_uc001hsd.4_Missense_Mutation_p.R118H|MRPL55_uc001hse.4_Missense_Mutation_p.R118H|MRPL55_uc001hsf.4_Missense_Mutation_p.R118H	NM_181462	NP_852127	Q7Z7F7	RM55_HUMAN	Homo sapiens mitochondrial ribosomal protein L55 (MRPL55), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	118					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				CTGTCGGTAGCGCTCCACATG	0.592												
RYR2	6262	broad.mit.edu	37	1	237632437	237632437	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:237632437G>A	uc001hyl.1	+	16	1778	c.1658G>A	c.(1657-1659)gGc>gAc	p.G553D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	553					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G551V(1)|p.L553L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATTTTCTGGCTCCCTCGAC	0.373												
OR2T11	127077	broad.mit.edu	37	1	248789661	248789661	+	Missense_Mutation	SNP	C	C	T	rs139227153	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:248789661C>T	uc001ier.1	-	0	769	c.769G>A	c.(769-771)Gtg>Atg	p.V257M		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y256Y(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			TGGGGCAGCACGTATGTGTAG	0.532												
NEBL	10529	broad.mit.edu	37	10	21185902	21185902	+	Silent	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr10:21185902C>T	uc001iqi.3	-	1	535	c.138G>A	c.(136-138)acG>acA	p.T46T	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	46					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAATGAGTTCCGTGCATTTTC	0.353												
OR52E2	119678	broad.mit.edu	37	11	5080175	5080175	+	Missense_Mutation	SNP	C	C	T	rs141087990		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:5080175C>T	uc010qyw.2	-	0	683	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTAGGAAGACGGAAAACAGC	0.398												
OR5W2	390148	broad.mit.edu	37	11	55681607	55681607	+	Missense_Mutation	SNP	A	A	G			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:55681607A>G	uc010rir.2	-	0	452	c.452T>C	c.(451-453)gTg>gCg	p.V151A		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCTATTCCCACCAGATAAAC	0.458												
GLYATL1	92292	broad.mit.edu	37	11	58722269	58722269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:58722269C>A	uc001nnh.2	+	4	356	c.306C>A	c.(304-306)taC>taA	p.Y102*	GLYATL1_uc001nnf.3_Nonsense_Mutation_p.Y71*|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Nonsense_Mutation_p.Y71*|GLYATL1_uc001nnj.2_Nonsense_Mutation_p.Y71*	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	71						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGGATTCATACACAAACGTAT	0.373												
NPAS4	266743	broad.mit.edu	37	11	66192332	66192332	+	Silent	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:66192332C>T	uc001ohx.1	+	6	2147	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	NPAS4_uc010rpc.1_Silent_p.G447G	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	657					transcription, DNA-dependent		DNA binding|signal transducer activity	p.G657G(2)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGCACTGGCGGACTAGAGC	0.582												
ARHGEF17	9828	broad.mit.edu	37	11	73020926	73020926	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:73020926G>A	uc001otu.3	+	0	1264	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	415					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGGCTGGGGCGTGTACCGCTC	0.657												
RECQL	5965	broad.mit.edu	37	12	21643134	21643134	+	Silent	SNP	A	A	G			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr12:21643134A>G	uc001rex.3	-	5	742	c.394_splice	c.e5+1	p.G132_splice	RECQL_uc001rey.3_Splice_Site_p.G132_splice	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	132	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AGTACATACCATCTGAACATA	0.289								Other identified genes with known or suspected DNA repair function				
MPHOSPH9	10198	broad.mit.edu	37	12	123661241	123661241	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr12:123661241C>T	uc001uel.3	-	11	2102	c.1994G>A	c.(1993-1995)cGt>cAt	p.R665H	MPHOSPH9_uc010tal.2_Missense_Mutation_p.R119H|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Missense_Mutation_p.R119H	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	665					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTACTTGGCACGCGAGGGTCT	0.353												
UGGT2	55757	broad.mit.edu	37	13	96578002	96578002	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr13:96578002G>A	uc001vmt.3	-	19	2397	c.2227C>T	c.(2227-2229)Ctc>Ttc	p.L743F		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	743					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ATAATCCAGAGAGTGACTGCA	0.308												
SLC38A6	145389	broad.mit.edu	37	14	61518523	61518525	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr14:61518523_61518525delATG	uc001xfh.2	+	13	1233_1235	c.1069_1071delATG	c.(1069-1071)atgdel	p.M358del	SLC38A6_uc001xfg.2_In_Frame_Del_p.M358del|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_In_Frame_Del_p.M335del	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	358					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AGCTGTAACAATGATGTTTTTCT	0.340												
SERPINA11	256394	broad.mit.edu	37	14	94912695	94912695	+	Missense_Mutation	SNP	C	C	G	rs148183767		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr14:94912695C>G	uc001ydd.1	-	2	950	c.890G>C	c.(889-891)aGa>aCa	p.R297T		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	297					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.D296G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCCCCATTTTCTCAGGGTCTG	0.562												
TRPM1	4308	broad.mit.edu	37	15	31360288	31360288	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr15:31360288C>T	uc021sia.1	-	3	652	c.338G>A	c.(337-339)cGt>cAt	p.R113H	TRPM1_uc010azy.3_5'UTR|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R96H|TRPM1_uc001zfm.3_Missense_Mutation_p.R74H|MIR211_uc010ubm.1_5'Flank|TRPM1_uc010ubn.1_5'Flank	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	74					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATAGGATACACGGATATACTG	0.493												
DNM1P47	100216544	broad.mit.edu	37	15	102292812	102292812	+	Missense_Mutation	SNP	G	G	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr15:102292812G>T	uc010usj.2	+	3	459	c.400G>T	c.(400-402)Gtg>Ttg	p.V134L	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		CTGCACTCGCGTGGGAACGAG	0.607												
LOC283922	283922	broad.mit.edu	37	16	74371421	74371421	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr16:74371421C>T	uc002fcr.2	-	10	1903	c.557G>A	c.(556-558)gGt>gAt	p.G186D	LOC283922_uc010vms.1_Non-coding_Transcript					Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA.																		ATACCCTCCACCCTCGTTGAG	0.522												
COX10	1352	broad.mit.edu	37	17	14110443	14110443	+	Missense_Mutation	SNP	C	C	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr17:14110443C>A	uc002gof.4	+	6	1449	c.1245C>A	c.(1243-1245)agC>agA	p.S415R	COX10_uc010vvs.2_Missense_Mutation_p.S198R|COX10_uc010vvt.2_Missense_Mutation_p.S223R	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	415					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TCTTCTGCAGCCTGTGGCACC	0.657												
NF1	4763	broad.mit.edu	37	17	29654691	29654691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr17:29654691C>T	uc002hgg.3	+	37	5826	c.5443C>T	c.(5443-5445)Cag>Tag	p.Q1815*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1794*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q827*|NF1_uc010cso.3_Nonsense_Mutation_p.Q3*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1815					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q1815*(2)|p.H1814fs*43(2)|p.Q1815L(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTTCATGCACCAGGAGTGTGA	0.493			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
ABHD3	171586	broad.mit.edu	37	18	19283692	19283692	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr18:19283692G>A	uc002ktl.2	-	1	319	c.179C>T	c.(178-180)aCc>aTc	p.T60I	ABHD3_uc010xao.1_Intron|MIB1_uc002ktp.3_5'Flank	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	Homo sapiens abhydrolase domain containing 3 (ABHD3), mRNA.	60						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CTCACCCCCGGTCACTAACTG	0.547												
PIK3R2	5296	broad.mit.edu	37	19	18280055	18280055	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:18280055C>T	uc002nia.1	+	15	2650	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	713	SH2 2.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GTCACCCTGGCGCACCCAGTg	0.751												
DHX34	9704	broad.mit.edu	37	19	47876058	47876058	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:47876058G>A	uc010xyn.2	+	7	2189	c.1840G>A	c.(1840-1842)Gtc>Atc	p.V614I	DHX34_uc010elc.1_Missense_Mutation_p.V529I	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	614						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGCACTTAGCGTCCAGTCGCC	0.672												
SIGLEC12	89858	broad.mit.edu	37	19	52004890	52004890	+	Missense_Mutation	SNP	G	G	A	rs141817270		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:52004890G>A	uc002pwx.1	-	0	154	c.98C>T	c.(97-99)aCg>aTg	p.T33M	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	33	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCCTGCACCGTCACGGACTT	0.577												
ZNF761	388561	broad.mit.edu	37	19	53958627	53958627	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:53958627G>A	uc010eqp.3	+	6	1324	c.866G>A	c.(865-867)cGt>cAt	p.R289H	ZNF761_uc010ydy.2_Missense_Mutation_p.R235H|ZNF761_uc002qbt.2_Missense_Mutation_p.R235H	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCGTAGACTTCAT	0.398												
EPS8L1	54869	broad.mit.edu	37	19	55597484	55597484	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:55597484G>A	uc002qis.4	+	15	1678	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	EPS8L1_uc010ess.1_Missense_Mutation_p.G539E|EPS8L1_uc010yfr.2_Missense_Mutation_p.G461E|EPS8L1_uc002qiu.3_Missense_Mutation_p.G398E|EPS8L1_uc002qiv.3_Missense_Mutation_p.G203E|EPS8L1_uc002qiw.3_Missense_Mutation_p.G304E	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	525	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGCAGGAGGGATATGTGCCC	0.622												
NPHP1	4867	broad.mit.edu	37	2	110922207	110922207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:110922207G>A	uc002tfn.4	-	7	923	c.829C>T	c.(829-831)Cga>Tga	p.R277*	NPHP1_uc002tfm.4_Intron|NPHP1_uc002tfl.4_Nonsense_Mutation_p.R277*|NPHP1_uc002tfo.4_Intron|NPHP1_uc010ywx.2_Intron|NPHP1_uc010fjv.1_Intron	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	277					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ATCCTATTTCGCATCAGAACT	0.458												
NCKAP5	344148	broad.mit.edu	37	2	133547632	133547632	+	Silent	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:133547632G>A	uc002ttp.3	-	12	1430	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	NCKAP5_uc002ttq.3_Silent_p.S352S	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	352	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCACGTGTAGGAGGAGCCAC	0.522												
ITGA6	3655	broad.mit.edu	37	2	173356005	173356005	+	Silent	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:173356005C>T	uc002uhp.1	+	21	3038	c.2835C>T	c.(2833-2835)gaC>gaT	p.D945D	ITGA6_uc010zdy.1_Silent_p.D826D|ITGA6_uc002uho.1_Silent_p.D945D|ITGA6_uc010fqm.1_Silent_p.D576D	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	984					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GGGGGCTGGACAGCAAGGCGT	0.473												
PLCL1	5334	broad.mit.edu	37	2	198950624	198950624	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:198950624C>T	uc010fsp.3	+	1	2781	c.2383C>T	c.(2383-2385)Cgt>Tgt	p.R795C	PLCL1_uc002uuv.4_Missense_Mutation_p.R716C	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	795	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGCCATGATCCGTTTTGTTGT	0.398												
ZNF831	128611	broad.mit.edu	37	20	57767405	57767405	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr20:57767405C>T	uc002yan.3	+	0	1331	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	444						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACCTGCCCACGCCCTACACC	0.682												
TMPRSS15	5651	broad.mit.edu	37	21	19687506	19687506	+	Silent	SNP	G	G	A	rs148711749	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr21:19687506G>A	uc002ykw.3	-	16	2020	c.1989C>T	c.(1987-1989)gaC>gaT	p.D663D		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	663	LDL-receptor class A 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.D663D(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCAGATGACCGTCACAGAGAT	0.398												
SLC5A1	6523	broad.mit.edu	37	22	32445981	32445981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr22:32445981C>T	uc003amc.3	+	1	437	c.187C>T	c.(187-189)Cga>Tga	p.R63*		NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	63					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CCTGGCAGGCCGAAGTATGGT	0.448												
CARD10	29775	broad.mit.edu	37	22	37906263	37906263	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr22:37906263G>A	uc003asx.1	-	3	882	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_5'Flank|CARD10_uc003asy.1_Missense_Mutation_p.R289W	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	289			R -> Q (in dbSNP:rs9610775).		activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCCGTCAGCCGCTGGTTCTCA	0.662												
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr22:44083357C>T	uc003bdy.2	-	10	1450	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_uc003bdz.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R376K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308												
EPHA3	2042	broad.mit.edu	37	3	89478302	89478302	+	Silent	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr3:89478302G>A	uc003dqy.3	+	11	2346	c.2121G>A	c.(2119-2121)ttG>ttA	p.L707L	EPHA3_uc021xbf.1_Silent_p.L707L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	707	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGGTTCCTTGGATAGTTTCC	0.323										TSP Lung(6;0.00050)		
PTTG2	10744	broad.mit.edu	37	4	37962337	37962337	+	Silent	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:37962337C>T	uc011bye.2	+	0	282	c.282C>T	c.(280-282)acC>acT	p.T94T	TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.	94					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						AAAAGATGACCGAGAAGACTG	0.403												
SHROOM3	57619	broad.mit.edu	37	4	77661478	77661478	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:77661478C>T	uc011cbx.2	+	4	3105	c.2152C>T	c.(2152-2154)Cgg>Tgg	p.R718W	SHROOM3_uc011cbz.1_Missense_Mutation_p.R542W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R593W|SHROOM3_uc003hkg.3_Missense_Mutation_p.R496W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	718					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCATCTGGACCGGCAGGTTTC	0.677												
HNRPDL	9987	broad.mit.edu	37	4	83348672	83348672	+	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:83348672T>C	uc003hmr.3	-	3	1355	c.820A>G	c.(820-822)Aga>Gga	p.R274G	HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.R274G	NM_031372	NP_112740	O14979	HNRDL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.	274	RRM 2.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Hepatocellular(203;0.114)				CAAAATCCTCTTCTTTCATTT	0.333												
CLGN	1047	broad.mit.edu	37	4	141313760	141313760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:141313760delA	uc011chi.2	-	12	1689	c.1471delT	c.(1471-1473)tgtfs	p.C491fs	CLGN_uc003iii.3_Frame_Shift_Del_p.C491fs	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	491					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTTGGCCAACAAAATGAAGTA	0.348												
FGG	2266	broad.mit.edu	37	4	155533209	155533209	+	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:155533209T>C	uc003ioj.3	-	2	409	c.268A>G	c.(268-270)Atc>Gtc	p.I90V	FGG_uc003iog.3_Missense_Mutation_p.I90V	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	90					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTGAGTTGGATTGCTTTTATC	0.313												
SPOCK3	50859	broad.mit.edu	37	4	168155201	168155201	+	Nonsense_Mutation	SNP	T	T	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:168155201T>A	uc011cjq.1	-	0	217	c.160A>T	c.(160-162)Aaa>Taa	p.K54*	SPOCK3_uc021xuf.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003iri.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjs.1_5'UTR|SPOCK3_uc003irj.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjt.1_5'UTR|SPOCK3_uc011cjp.2_Nonsense_Mutation_p.K42*|SPOCK3_uc011cju.1_Silent_p.I2I|SPOCK3_uc011cjv.1_Nonsense_Mutation_p.K42*|SPOCK3_uc003irk.4_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	42					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AGCCATTGTTTATCATCCAGA	0.597												
NADKD1	133686	broad.mit.edu	37	5	36195277	36195279	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr5:36195277_36195279delTCT	uc003jkf.4	-	11	1296_1298	c.1296_1298delAGA	c.(1294-1299)gaagat>gat	p.E432del	NADKD1_uc003jke.4_Non-coding_Transcript|NADKD1_uc010iux.3_In_Frame_Del_p.E237del|NADKD1_uc003jkg.4_In_Frame_Del_p.E269del|NADKD1_uc011cov.2_In_Frame_Del_p.E291del	NM_001085411	NP_694558	Q4G0N4	NAKD1_HUMAN	Homo sapiens NAD kinase domain containing 1 (NADKD1), transcript variant 1, mRNA.	432							NAD+ kinase activity			NS(1)|breast(1)|lung(5)|ovary(4)|prostate(1)	12						TCGAAGCTCATCTTCTTTATTGA	0.399												
ATOX1	475	broad.mit.edu	37	5	151131276	151131276	+	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr5:151131276T>C	uc003luk.3	-	1	169	c.71A>G	c.(70-72)aAt>aGt	p.N24S		NM_004045	NP_004036	O00244	ATOX1_HUMAN	Homo sapiens ATX1 antioxidant protein 1 homolog (yeast) (ATOX1), mRNA.	24	HMA.				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TCCAAGCTTATTGAGGACCCG	0.527												
CSNK2B	1460	broad.mit.edu	37	6	31637272	31637272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:31637272C>T	uc003nvr.1	+	5	884	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.	182					adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						ACCTGCCAACCAGTTTGTGCC	0.572												
UNC5CL	222643	broad.mit.edu	37	6	40996200	40996200	+	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:40996200T>C	uc003opi.3	-	8	1568	c.1469A>G	c.(1468-1470)tAc>tGc	p.Y490C		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	490	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCACTCAGGTAGTTCTGGAT	0.667											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TRERF1	55809	broad.mit.edu	37	6	42231242	42231242	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:42231242G>A	uc003ose.2	-	7	2263	c.1700C>T	c.(1699-1701)cCg>cTg	p.P567L	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.P567L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	567	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P567P(1)|p.P569_P570delPP(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			tggtggcggcggaggcggagg	0.642												
EIF3B	8662	broad.mit.edu	37	7	2412424	2412424	+	Missense_Mutation	SNP	C	C	G			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:2412424C>G	uc003slx.3	+	11	1887	c.1804C>G	c.(1804-1806)Ctc>Gtc	p.L602V	EIF3B_uc003sly.3_Missense_Mutation_p.L602V|EIF3B_uc003sma.3_Missense_Mutation_p.L330V	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	602					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GAAGATTGAACTCATCAGTAA	0.507												
GAL3ST4	79690	broad.mit.edu	37	7	99764391	99764391	+	Missense_Mutation	SNP	A	A	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:99764391A>T	uc003utt.3	-	1	1180	c.163T>A	c.(163-165)Tcc>Acc	p.S55T	GAL3ST4_uc022aii.1_Intron|GAL3ST4_uc003utu.3_Missense_Mutation_p.S55T	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	55					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTCGTAGGGATGGGGCCGAG	0.622												
DOCK4	9732	broad.mit.edu	37	7	111540437	111540437	+	Missense_Mutation	SNP	A	A	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:111540437A>C	uc003vfy.3	-	14	1742	c.1473T>G	c.(1471-1473)caT>caG	p.H491Q	DOCK4_uc003vfx.3_Missense_Mutation_p.H491Q|DOCK4_uc003vga.1_Missense_Mutation_p.H96Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	491	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACTGGAACAATGCCGAAACT	0.473												
DLGAP2	9228	broad.mit.edu	37	8	1581155	1581155	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr8:1581155G>A	uc003wpl.3	+	4	1610	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	DLGAP2_uc003wpm.3_Missense_Mutation_p.E505K	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	584					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.E527K(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCAAGATGACGAATGTATTCC	0.547												
NUDCD1	84955	broad.mit.edu	37	8	110308796	110308796	+	Missense_Mutation	SNP	G	G	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr8:110308796G>C	uc003ynb.4	-	2	387	c.276C>G	c.(274-276)gaC>gaG	p.D92E	NUDCD1_uc003yna.3_Missense_Mutation_p.D63E|NUDCD1_uc010mcl.3_Missense_Mutation_p.D5E|NUDCD1_uc010mcm.1_Missense_Mutation_p.D5E	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.	92										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CTAAGGCAGTGTCCTAAAAAG	0.403												
IDNK	414328	broad.mit.edu	37	9	86258531	86258531	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr9:86258531C>T	uc004amu.2	+	4	454	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	IDNK_uc004amt.2_Non-coding_Transcript|IDNK_uc010mpv.2_3'UTR	NM_001001551	NP_001001551	Q5T6J7	GNTK_HUMAN	Homo sapiens chromosome 9 open reading frame 103 (C9orf103), transcript variant 1, mRNA.	134					carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity										CATCTCTGGACGCTTACTCAA	0.507												
TMEM245	23731	broad.mit.edu	37	9	111822726	111822726	+	Nonsense_Mutation	SNP	T	T	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr9:111822726T>A	uc004bdt.4	-	10	1662	c.1630A>T	c.(1630-1632)Aaa>Taa	p.K544*	TMEM245_uc022bln.1_Nonsense_Mutation_p.K96*|TMEM245_uc004bds.4_Non-coding_Transcript	NM_032012	NP_114401	Q9H330	CI005_HUMAN	Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA.	544						integral to membrane											CCTAGAATTTTATGGAGCTAG	0.343												
CXorf22	170063	broad.mit.edu	37	X	35985796	35985796	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chrX:35985796G>A	uc004ddj.3	+	9	1727	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	554								p.R554R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGGCAAAACGCAAGAATTAT	0.393												
SSX8	280659	broad.mit.edu	37	X	52654550	52654550	+	Splice_Site	SNP	A	A	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chrX:52654550A>T	uc011moa.1	+	3		c.354_splice	c.e3-2		SSX8_uc011mob.1_Splice_Site					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TTTTTTTTTTAGGCCTTCAAT	0.413												
PCDH19	57526	broad.mit.edu	37	X	99662130	99662131	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chrX:99662130_99662131delGA	uc010nmz.3	-	0	3141_3142	c.1465_1466delTC	c.(1465-1467)tccfs	p.S489fs	PCDH19_uc004efw.4_Frame_Shift_Del_p.S489fs|PCDH19_uc004efx.4_Frame_Shift_Del_p.S489fs	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	489	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GATCTGGTAGGAGACACTGCCG	0.584