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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NPY2R	4887	broad.mit.edu	37	4	156136059	156136059	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr4:156136059T>G	uc003ioq.3	+	1	1457	c.968T>G	c.(967-969)cTt>cGt	p.L323R	NPY2R_uc003ior.3_Missense_Mutation_p.L323R|NPY2R_uc021xtm.1_Missense_Mutation_p.L323R	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	323					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GCCAATCCCCTTCTCTATGGC	0.527000														114			56		0	0	0.014410	0	0
MKL2	57496	broad.mit.edu	37	16	14346228	14346228	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:14346228T>G	uc010uza.2	+	14	2727	c.2572T>G	c.(2572-2574)Tca>Gca	p.S858A	MKL2_uc002dcg.3_Missense_Mutation_p.S808A|MKL2_uc002dcj.3_Missense_Mutation_p.S103A	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	847					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACAGCCTAGTTCACCCCCGCC	0.522000														142			61		0	0	0.014410	0	0
FAM84B	157638	broad.mit.edu	37	8	127569250	127569250	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr8:127569250G>C	uc022bbc.1	-	0	385	c.385C>G	c.(385-387)Cag>Gag	p.Q129E	FAM84B_uc003yrz.2_Missense_Mutation_p.Q129E	NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	Homo sapiens family with sequence similarity 84, member B (FAM84B), mRNA.	129						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TGCGGGTACTGAGCCTGCGAC	0.637000														93			35		0	0	0.006230	0	0
CECR2	27443	broad.mit.edu	37	22	18028580	18028580	+	Silent	SNP	T	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr22:18028580T>A	uc010gqw.1	+	15	3531	c.3531T>A	c.(3529-3531)ccT>ccA	p.P1177P	CECR2_uc010gqv.1_Silent_p.P1037P|CECR2_uc002zml.2_Silent_p.P1038P|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1221					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCGAACTCCTTACTATGCCT	0.592000														87			46		0	0	0.014410	0	0
PRKAG2	51422	broad.mit.edu	37	7	151262972	151262972	+	Splice_Site	SNP	C	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:151262972C>T	uc003wkk.3	-	12	1845	c.1234_splice	c.e12-1	p.M412_splice	PRKAG2_uc003wki.3_Splice_Site_p.M171_splice|PRKAG2_uc011kvl.2_Splice_Site_p.M287_splice|PRKAG2_uc003wkj.3_Splice_Site_p.M368_splice|PRKAG2_uc003wkl.2_Intron	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	412	CBS 2.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		TATCAGACATCTAAACGGAAG	0.418000														52			27		0	0	0.006320	0	0
ANKRD7	56311	broad.mit.edu	37	7	117879989	117879989	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:117879989C>A	uc003vji.3	+	5	912	c.739C>A	c.(739-741)Cat>Aat	p.H247N		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	247					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						CACTGCGAGCCATGGAAAGAA	0.338000														145			26		2.12542e-12	2.44423e-12	0.006320	1	0
SYNJ2	8871	broad.mit.edu	37	6	158449969	158449969	+	Silent	SNP	A	T	T	rs140060886		TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr6:158449969A>T	uc003qqx.2	+	2	502	c.396A>T	c.(394-396)tcA>tcT	p.S132S	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.S132S|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_Silent_p.S81S|SYNJ2_uc010kjo.1_Silent_p.S81S|SYNJ2_uc021zhl.1_Non-coding_Transcript	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	132	SAC.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTATTTCTCATGGCCAAACG	0.542000														146			64		0	0	0.014410	0	0
NPIPL2	440348	broad.mit.edu	37	16	74425443	74425443	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:74425443C>A	uc010vmt.1	+	5	615	c.614C>A	c.(613-615)cCt>cAt	p.P205H				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	266										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						CTCAAGACACCTCCCGAATGT	0.488000														303			37		2.47872e-24	3.00056e-24	0.010771	1	0
BAIAP2L1	55971	broad.mit.edu	37	7	97933661	97933661	+	Silent	SNP	G	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:97933661G>A	uc003upj.3	-	11	1532	c.1269C>T	c.(1267-1269)acC>acT	p.T423T		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	423					filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	SH3 domain binding|actin binding|cytoskeletal adaptor activity|proline-rich region binding	p.T423T(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			ACAAGTTCACGGTGCTGATGC	0.537000														166			42		0	0	0.010771	0	0
MED7	9443	broad.mit.edu	37	5	156565887	156565887	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr5:156565887T>G	uc010jik.3	-	1	948	c.556A>C	c.(556-558)Act>Cct	p.T186P	MED7_uc003lwm.4_Missense_Mutation_p.T186P|MED7_uc021ygl.1_Missense_Mutation_p.T186P	NM_001100816	NP_004261	O43513	MED7_HUMAN	Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.	186					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTGGTTCAGTTTTTACTCTC	0.373000														71			42		0	0	0.006999	0	0
SCYL1	57410	broad.mit.edu	37	11	65305494	65305494	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr11:65305494G>A	uc001oea.1	+	15	2165	c.2088G>A	c.(2086-2088)tgG>tgA	p.W696*	SCYL1_uc009yqk.3_Nonsense_Mutation_p.W696*|SCYL1_uc001oeb.1_Nonsense_Mutation_p.W679*|SCYL1_uc001oec.1_Missense_Mutation_p.G684E|SCYL1_uc001oee.1_Nonsense_Mutation_p.W340*	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	696					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GGAGCAGCTGGGAAGCTGAGG	0.637000														18			15		0	0	0.004990	0	0
SLC25A27	9481	broad.mit.edu	37	6	46630133	46630133	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr6:46630133T>C	uc003oyh.3	+	3	682	c.404T>C	c.(403-405)aTg>aCg	p.M135T	SLC25A27_uc011dwb.2_Missense_Mutation_p.M135T|SLC25A27_uc003oyg.3_Missense_Mutation_p.M135T|SLC25A27_uc011dwc.2_Missense_Mutation_p.M49T|SLC25A27_uc003oyi.3_Missense_Mutation_p.M65T	NM_004277	NP_004268	O95847	UCP4_HUMAN	Homo sapiens solute carrier family 25, member 27 (SLC25A27), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	135					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			ATTGGAGGGATGATGGCTGGT	0.388000														25			6		0	0	0.006214	0	0
CHGB	1114	broad.mit.edu	37	20	5903027	5903027	+	Silent	SNP	A	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr20:5903027A>G	uc002wmg.3	+	3	543	c.237A>G	c.(235-237)acA>acG	p.T79T	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	79						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATGAAAACACAAAGTTTGAAG	0.453000														68			42		0	0	0.010771	0	0
MYCN	4613	broad.mit.edu	37	2	16086058	16086058	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr2:16086058G>C	uc002rci.3	+	2	1534	c.1234G>C	c.(1234-1236)Gta>Cta	p.V412L	MYCN_uc010yjr.2_Missense_Mutation_p.V412L	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	412	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCCGGAGTTGGTAAAGAATGA	0.572000			A		neuroblastoma									298			147		0	0	0.014410	0	0
PIGZ	80235	broad.mit.edu	37	3	196675120	196675120	+	Silent	SNP	A	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:196675120A>T	uc003fxh.3	-	2	795	c.648T>A	c.(646-648)ctT>ctA	p.L216L		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	216					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	p.L216F(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CAATGCCTCCAAGAAGCCAGC	0.637000														106			81		0	0	0.014410	0	0
PVRL3	25945	broad.mit.edu	37	3	110830989	110830989	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:110830989G>A	uc003dxt.2	+	1	532	c.273G>A	c.(271-273)tgG>tgA	p.W91*	PVRL3_uc003dxu.2_Nonsense_Mutation_p.W68*|PVRL3_uc021xch.1_Nonsense_Mutation_p.W91*	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA.	91	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AGATTTCATGGGAGAAGATAC	0.378000														9			3		0	0	0.009096	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501484	90501484	+	Silent	SNP	C	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr9:90501484C>T	uc004app.4	+	3	2117	c.2082C>T	c.(2080-2082)acC>acT	p.T694T	FAM75E1_uc004apo.1_Silent_p.T506T	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	694						integral to membrane											TGCAGAAGACCGGGTTCAGGA	0.612000														146			15		0	0	0.014410	0	0
EGLN1	54583	broad.mit.edu	37	1	231502192	231502192	+	Nonsense_Mutation	SNP	T	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:231502192T>A	uc001huv.2	-	4	4402	c.1246A>T	c.(1246-1248)Aaa>Taa	p.K416*	EGLN1_uc001huu.3_Nonsense_Mutation_p.K118*	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA.	416					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	TCTGAAGGTTTATTGAGTTCA	0.378000														41			16		0	0	0.008871	0	0
MON1A	84315	broad.mit.edu	37	3	49946456	49946456	+	Silent	SNP	G	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:49946456G>A	uc003cxz.3	-	5	2076	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	MON1A_uc003cya.3_Silent_p.L488L|MON1A_uc003cyb.2_3'UTR	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA.	553							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATCAATAGGTGAGGGGCGTGA	0.607000														70			26		0	0	0.009535	0	0
TREX2	11219	broad.mit.edu	37	X	152710189	152710189	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chrX:152710189G>T	uc022chv.1	-	0	700	c.700C>A	c.(700-702)Ctg>Atg	p.L234M	TREX2_uc010nud.2_Missense_Mutation_p.L234M|TREX2_uc011myp.2_Missense_Mutation_p.L234M|TREX2_uc010nue.2_Missense_Mutation_p.L276M|HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	Homo sapiens three prime repair exonuclease 2 (TREX2), mRNA.	277					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCTCCAGGCTGGGGTCA	0.687000								Editing and processing nucleases						8			5		1.23904e-05	1.35704e-05	0.000602	1	0
MINK1	50488	broad.mit.edu	37	17	4800540	4800540	+	Silent	SNP	T	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:4800540T>G	uc010vsl.2	+	31	4201	c.3957T>G	c.(3955-3957)gtT>gtG	p.V1319V	MINK1_uc010vsk.2_Silent_p.V1290V|MINK1_uc010vsm.2_Silent_p.V1299V|MINK1_uc010vsn.2_Silent_p.V1282V|MINK1_uc010vso.2_Silent_p.V1227V|MINK1_uc010vsp.2_Silent_p.V780V|C17orf107_uc010ckr.3_5'Flank|C17orf107_uc002fzl.3_5'Flank	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	1319	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCAGCCAAGTTTACTTCATGA	0.612000														60			24		0	0	0.002780	0	0
POR	5447	broad.mit.edu	37	7	75615481	75615481	+	Missense_Mutation	SNP	A	G	G	rs72557954		TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:75615481A>G	uc011kge.2	+	8	1284	c.1034A>G	c.(1033-1035)tAc>tGc	p.Y345C	POR_uc003udy.3_Missense_Mutation_p.Y607C|POR_uc011kgc.2_Missense_Mutation_p.Y415C	NM_000941	NP_000932	P16435	NCPR_HUMAN	Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA.	604	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	NADPH-hemoprotein reductase activity|iron ion binding	p.V344F(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CCCCAGGTCTACGTCCAGCAC	0.632000														17			16		0	0	0.006122	0	0
UPF1	5976	broad.mit.edu	37	19	18963808	18963808	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:18963808A>G	uc002nkg.3	+	6	1260	c.985A>G	c.(985-987)Atc>Gtc	p.I329V	UPF1_uc002nkf.3_Missense_Mutation_p.I329V	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	329	Sufficient for interaction with RENT2.				DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCAAGATAACATCACTGTCAG	0.537000														164			82		0	0	0.014410	0	0
ZBTB11	27107	broad.mit.edu	37	3	101370247	101370247	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:101370247T>G	uc003dve.4	-	10	3155	c.2925A>C	c.(2923-2925)caA>caC	p.Q975H		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	975					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACTGCTTTCTTGTTCCTGCA	0.448000														161			71		0	0	0.014410	0	0
SMARCC2	6601	broad.mit.edu	37	12	56559482	56559482	+	Splice_Site	SNP	A	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr12:56559482A>G	uc001skb.3	-	26	2864	c.2758_splice	c.e26-1	p.L920_splice	SMARCC2_uc001skd.3_Splice_Site_p.L951_splice|SMARCC2_uc001ska.3_Splice_Site_p.L951_splice|SMARCC2_uc001skc.3_Splice_Site_p.L950_splice|SMARCC2_uc010sqf.2_Splice_Site_p.L840_splice	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	920					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTGATACTCCAGCTGCCAGTG	0.527000														31			16		0	0	0.005443	0	0
EIF4H	7458	broad.mit.edu	37	7	73601993	73601993	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:73601993A>G	uc003uad.1	+	1	120	c.112A>G	c.(112-114)Aca>Gca	p.T38A	EIF4H_uc011kfg.1_Missense_Mutation_p.T38A|EIF4H_uc003uae.1_Missense_Mutation_p.T38A	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	38					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						GGAGTTGCCCACAGAGCCCCC	0.527000														240			110		0	0	0.014410	0	0
ATXN2	6311	broad.mit.edu	37	12	111963052	111963052	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr12:111963052A>G	uc001tsj.3	-	5	1282	c.1120T>C	c.(1120-1122)Tgg>Cgg	p.W374R	ATXN2_uc001tsh.3_Missense_Mutation_p.W109R|ATXN2_uc001tsi.3_Missense_Mutation_p.W85R|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Missense_Mutation_p.W109R	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	374					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CCTGCATCCCAGGGCTCCAGG	0.418000														65			34		0	0	0.004289	0	0
AP4E1	23431	broad.mit.edu	37	15	51285604	51285604	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr15:51285604T>G	uc001zyx.2	+	16	2235	c.2128T>G	c.(2128-2130)Tgg>Ggg	p.W710G	AP4E1_uc021skz.1_Missense_Mutation_p.W635G	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	710					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AAAGAAATTGTGGGGGAAAGA	0.383000														21			3		0	0	0.004672	0	0
UGT2B7	7364	broad.mit.edu	37	4	69968643	69968643	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr4:69968643A>T	uc003heg.4	+	2	1035	c.989A>T	c.(988-990)cAg>cTg	p.Q330L	UGT2B7_uc010ihq.3_Missense_Mutation_p.Q330L	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	330					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCCTGGCCCAGATCCCACAA	0.428000														31			14		0	0	0.004007	0	0
OR7E24	26648	broad.mit.edu	37	19	9362275	9362275	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:9362275T>G	uc002mlb.1	+	0	556	c.556T>G	c.(556-558)Tgc>Ggc	p.C186G		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ACAGCTCACCTGCTTCAAGGA	0.403000														32			9		0	0	0.008291	0	0
CDH9	1007	broad.mit.edu	37	5	26906161	26906161	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr5:26906161C>T	uc003jgs.1	-	4	887	c.718G>A	c.(718-720)Gac>Aac	p.D240N	CDH9_uc010iug.3_Missense_Mutation_p.D240N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	240	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D240N(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCACCCATGTCTTTGGCCTGT	0.448000														35			11		0	0	0.010729	0	0
NCOR1	9611	broad.mit.edu	37	17	15964734	15964734	+	Silent	SNP	A	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:15964734A>G	uc002gpo.3	-	36	6131	c.5862T>C	c.(5860-5862)agT>agC	p.S1954S	NCOR1_uc002gpn.3_Intron|NCOR1_uc002gpm.3_Silent_p.S474S|NCOR1_uc010vwb.2_Silent_p.S538S|NCOR1_uc010coy.3_Silent_p.S862S|NCOR1_uc010vwc.2_Silent_p.S764S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1954	Interaction with C1D (By similarity).|Poly-Ser.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AAGAGTCTGAACTTTGAGAGC	0.428000														217			83		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140186954	140186954	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr5:140186954C>T	uc003lhi.2	+	0	283	c.182C>T	c.(181-183)cCg>cTg	p.P61L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P61L|PCDHAC2_uc011daa.2_Missense_Mutation_p.P61L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	74	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.V61V(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGCGCCTGTTC	0.632000														204			22		0	0	0.003330	0	0
FAM45A	404636	broad.mit.edu	37	10	120879873	120879873	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr10:120879873A>T	uc001ldw.3	+	4	546	c.502A>T	c.(502-504)Atg>Ttg	p.M168L	FAM45A_uc010qsv.2_Missense_Mutation_p.M160L|FAM45A_uc010qsw.2_Missense_Mutation_p.M17L|FAM45A_uc010qsx.2_Intron|FAM45A_uc010qsy.2_Missense_Mutation_p.M95L	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	168										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TCAGTTTGGAATGGAAACTGT	0.343000														76			35		0	0	0.004878	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864026	47864026	+	Silent	SNP	G	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr20:47864026G>A	uc002xui.3	-	13	5782	c.5535C>T	c.(5533-5535)caC>caT	p.H1845H		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1845							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTTGAACCAGTGACCACGAG	0.547000														128			76		0	0	0.014410	0	0
GGT3P	2679	broad.mit.edu	37	22	18778640	18778640	+	RNA	SNP	T	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr22:18778640T>C	uc011ago.1	-	1		c.180A>G			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		GGTTGTCAGGTTCCTTGGAGG	0.632000														12			3		0	0	0.009096	0	0
TMF1	7110	broad.mit.edu	37	3	69096707	69096707	+	Silent	SNP	T	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:69096707T>C	uc011bfx.2	-	1	1396	c.1149A>G	c.(1147-1149)acA>acG	p.T383T	TMF1_uc003dnn.3_Silent_p.T383T	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	383					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTATAACTAATGTTTCATTTA	0.383000														61			38		0	0	0.004878	0	0
BBS2	583	broad.mit.edu	37	16	56531663	56531663	+	Silent	SNP	G	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:56531663G>A	uc002ejd.2	-	13	2023	c.1789C>T	c.(1789-1791)Cta>Tta	p.L597L		NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	597					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ACCTTAACTAGCACCTTTCGT	0.373000									Bardet-Biedl syndrome					38			26		0	0	0.006320	0	0
C4orf37	285555	broad.mit.edu	37	4	98865112	98865112	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr4:98865112T>G	uc003htt.2	-	7	1070	c.980A>C	c.(979-981)aAc>aCc	p.N327T		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	327										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		GTTAGTCAAGTTAGGTAATTC	0.323000														18			8		0	0	0.004482	0	0
MAD1L1	8379	broad.mit.edu	37	7	2020096	2020096	+	Silent	SNP	G	A	A	rs113127342	by1000genomes	TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:2020096G>A	uc003slh.1	-	14	1763	c.1497C>T	c.(1495-1497)gaC>gaT	p.D499D	MAD1L1_uc003sle.1_Silent_p.D228D|MAD1L1_uc003slf.1_Silent_p.D499D|MAD1L1_uc003slg.1_Silent_p.D499D|MAD1L1_uc010ksh.1_Silent_p.D499D|MAD1L1_uc003sli.1_Silent_p.D407D|MAD1L1_uc010ksi.1_Silent_p.D452D|MAD1L1_uc010ksj.3_Silent_p.D499D	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	499	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACCTGAGCGTGTCCGCCTCCT	0.617000														52			5		0	0	0.001984	0	0
PBX1	5087	broad.mit.edu	37	1	164761796	164761796	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:164761796A>T	uc001gct.3	+	2	794	c.331A>T	c.(331-333)Atg>Ttg	p.M111L	PBX1_uc010pku.2_Missense_Mutation_p.M111L|PBX1_uc001gcs.3_Missense_Mutation_p.M111L|PBX1_uc010pkv.2_Missense_Mutation_p.M28L|PBX1_uc010pkw.1_Missense_Mutation_p.M1L	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	111					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GCTGGACAACATGCTGTTAGC	0.627000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									56			35		0	0	0.004878	0	0
POLR2J	5439	broad.mit.edu	37	7	102119282	102119282	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:102119282G>C	uc003uzp.1	-	0	100	c.26C>G	c.(25-27)tCg>tGg	p.S9W		NM_006234	NP_006225	P52435	RPB11_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa (POLR2J), mRNA.	9					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity			pancreas(2)	2						GAGCAAGAACGACTCGAAGGC	0.682000											OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		153			9		0	0	0.003163	0	0
IL17D	53342	broad.mit.edu	37	13	21295994	21295994	+	Silent	SNP	C	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr13:21295994C>T	uc001unm.3	+	2	618	c.510C>T	c.(508-510)gtC>gtT	p.V170V		NM_138284	NP_612141	Q8TAD2	IL17D_HUMAN	Homo sapiens interleukin 17D (IL17D), mRNA.	170					inflammatory response	extracellular space	cytokine activity			endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		GCACCTGCGTCCCCGAGCCGG	0.706000														67			47		0	0	0.014410	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833792	61833792	+	Silent	SNP	T	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr20:61833792T>C	uc002yeh.3	-	3	1794	c.1500A>G	c.(1498-1500)aaA>aaG	p.K500K	YTHDF1_uc011aaq.2_Silent_p.K450K	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	500	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGTGACCGGTTTGTTGTCGT	0.483000														187			26		0	0	0.006999	0	0
PPFIA2	8499	broad.mit.edu	37	12	81661720	81661720	+	Silent	SNP	A	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr12:81661720A>G	uc001szo.2	-	28	3618	c.3457T>C	c.(3457-3459)Tta>Cta	p.L1153L	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.L1052L|PPFIA2_uc021rbh.1_Silent_p.L1048L|PPFIA2_uc021rbi.1_Silent_p.L1147L|PPFIA2_uc021rbj.1_Silent_p.L1132L|PPFIA2_uc021rbk.1_Silent_p.L1138L|PPFIA2_uc021rbl.1_Silent_p.L1153L|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.L689L|PPFIA2_uc021rbf.1_Silent_p.L339L	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	1052										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATCTGTAATAATAAAGCTAAG	0.363000														17			6		0	0	0.003080	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908303	139908303	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr5:139908303G>C	uc003lfs.2	+	28	5926	c.5772G>C	c.(5770-5772)gaG>gaC	p.E1924D	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.E1924D|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.E663D|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.E562D|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.E359D|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.E61D	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1924						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCCTCAGAGTCTGCTGGAC	0.488000														35			4		0	0	0.009096	0	0
RDH8	50700	broad.mit.edu	37	19	10132218	10132218	+	Silent	SNP	C	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:10132218C>A	uc002mmr.3	+	5	978	c.729C>A	c.(727-729)gtC>gtA	p.V243V		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	243					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AGGCCATTGTCAACGTCATCA	0.632000														96			52		3.76997e-23	4.51611e-23	0.014410	1	0
MFSD5	84975	broad.mit.edu	37	12	53647275	53647275	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr12:53647275T>G	uc001sch.2	+	1	1124	c.977T>G	c.(976-978)cTt>cGt	p.L326R	MFSD5_uc001sci.2_Missense_Mutation_p.L219R|MFSD5_uc021qye.1_Missense_Mutation_p.L219R	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	219					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GCCTTGGCCCTTCGAAACTGG	0.662000														197			105		0	0	0.014410	0	0
FGR	2268	broad.mit.edu	37	1	27943508	27943508	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:27943508G>A	uc001boj.3	-	4	688	c.542C>T	c.(541-543)tCc>tTc	p.S181F	FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Missense_Mutation_p.S181F|FGR_uc001bol.3_Missense_Mutation_p.S181F|FGR_uc001bom.3_Missense_Mutation_p.S181F	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	181	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GATGGACAGGGAGTAGGCACC	0.567000														82			113		0	0	0.014410	0	0
BFAR	51283	broad.mit.edu	37	16	14755800	14755800	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:14755800C>G	uc002dco.3	+	5	1116	c.835C>G	c.(835-837)Ccc>Gcc	p.P279A	BFAR_uc010uzh.2_Missense_Mutation_p.P151A	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	279					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CAAGAGCTCCCCCAGGCTGAG	0.567000														266			152		0	0	0.014410	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40821477	40821477	+	Nonsense_Mutation	SNP	C	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:40821477C>A	uc002iau.2	-	11	2643	c.2176G>T	c.(2176-2178)Gag>Tag	p.E726*	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_3'UTR	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	726	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGCTGGCTCTCTCCCACCCTC	0.622000														57			40		2.35958e-20	2.79745e-20	0.009718	1	0
IGF1R	3480	broad.mit.edu	37	15	99465632	99465632	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr15:99465632C>A	uc002bul.3	+	10	2507	c.2457C>A	c.(2455-2457)aaC>aaA	p.N819K	IGF1R_uc010urq.2_Missense_Mutation_p.N819K|IGF1R_uc010bon.3_Missense_Mutation_p.N819K|IGF1R_uc010boo.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	819					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GCGCCTCCAACTTCGTCTTTG	0.517000														176			92		2.13259e-42	2.63707e-42	0.014410	1	0
RGL4	266747	broad.mit.edu	37	22	24041048	24041048	+	Silent	SNP	A	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr22:24041048A>T	uc002zxo.3	+	11	2748	c.1491A>T	c.(1489-1491)ccA>ccT	p.P497P	GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Missense_Mutation_p.Q467L|RGL4_uc002zxp.1_3'UTR|RGL4_uc002zxq.3_Missense_Mutation_p.S376C			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	0					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CTGTCCTGCCAGCTGGAGCCC	0.627000														26			12		0	0	0.001855	0	0
SARS2	54938	broad.mit.edu	37	19	39412717	39412717	+	Splice_Site	SNP	A	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:39412717A>T	uc010xup.1	-	4	554	c.394_splice	c.e4-1	p.V132_splice	SARS2_uc002ojz.2_Intron|SARS2_uc002oka.2_Intron|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_Intron|SARS2_uc010xus.1_3'UTR	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	131					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			atccagccgcacctgaagcca	0.448000														27			17		0	0	0.004007	0	0
ZNF423	23090	broad.mit.edu	37	16	49671278	49671278	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:49671278G>T	uc002efs.3	-	4	2083	c.1785C>A	c.(1783-1785)caC>caA	p.H595Q	ZNF423_uc010vgn.2_Missense_Mutation_p.H478Q	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	595					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACTTCTTGCTGTGGGCCAGTG	0.572000														195			87		1.78623e-52	2.25732e-52	0.014410	1	0
OGG1	4968	broad.mit.edu	37	3	9793597	9793597	+	Missense_Mutation	SNP	A	G	G	rs144249605	byFrequency	TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:9793597A>G	uc003bsi.3	+	2	872	c.529A>G	c.(529-531)Acc>Gcc	p.T177A	OGG1_uc003bsj.3_Missense_Mutation_p.T177A|OGG1_uc003bsh.3_Missense_Mutation_p.T177A|OGG1_uc003bsl.3_Missense_Mutation_p.T177A|OGG1_uc003bsk.3_Missense_Mutation_p.T177A|OGG1_uc003bsm.3_Missense_Mutation_p.T177A|OGG1_uc003bsn.3_Missense_Mutation_p.T177A|OGG1_uc003bso.3_Missense_Mutation_p.T177A|OGG1_uc003bsr.2_Silent_p.S2S|OGG1_uc010hcm.2_Missense_Mutation_p.T20A|OGG1_uc003bsq.2_Silent_p.S2S|OGG1_uc003bsp.2_Silent_p.S2S	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	177					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					TGATGATGTCACCTACCATGG	0.572000								Base excision repair (BER), DNA glycosylases						92			41		0	0	0.014410	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000														11			3		0	0	0.009096	0	0
UBTF	7343	broad.mit.edu	37	17	42289718	42289718	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:42289718C>G	uc010czs.3	-	7	1061	c.765G>C	c.(763-765)gaG>gaC	p.E255D	UBTF_uc002igc.3_Intron|UBTF_uc002igd.3_Intron|UBTF_uc010czt.3_Missense_Mutation_p.E255D|UBTF_uc002ige.2_Intron	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	255					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TAACCTCGTACTCCTTCCGCT	0.617000														154			83		0	0	0.014410	0	0
NUP214	8021	broad.mit.edu	37	9	134010301	134010301	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr9:134010301A>T	uc004cag.3	+	7	959	c.848A>T	c.(847-849)cAc>cTc	p.H283L	NUP214_uc004cah.3_Missense_Mutation_p.H283L|NUP214_uc004caf.1_Missense_Mutation_p.H283L	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	283					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAAGAAAAGCACCCAGAGATA	0.378000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									31			14		0	0	0.004007	0	0
NKX2-4	644524	broad.mit.edu	37	20	21376576	21376576	+	Silent	SNP	G	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr20:21376576G>T	uc010gcz.3	-	1	1048	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A		NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN	Homo sapiens NK2 homeobox 4 (NKX2-4), mRNA.	346					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A346T(1)		lung(2)|upper_aerodigestive_tract(1)	3						AGAGCAGGTTGGCGCCCAGGA	0.736000														26			16		9.04412e-07	1.00978e-06	0.004656	1	0
ANTXR2	118429	broad.mit.edu	37	4	80992809	80992809	+	Splice_Site	SNP	C	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr4:80992809C>A	uc003hlz.4	-	2	916	c.153_splice	c.e2-1	p.K51_splice	ANTXR2_uc003hly.4_Splice_Site_p.K51_splice|ANTXR2_uc003hlx.1_Splice_Site|ANTXR2_uc010ijn.3_Splice_Site_p.K51_splice	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.	51	VWFA.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						ACTCCCAGACCTGAAAGATGA	0.383000									Juvenile Hyaline Fibromatosis					50			19		5.35267e-07	6.03487e-07	0.007413	1	0
SPEM1	374768	broad.mit.edu	37	17	7324267	7324267	+	Silent	SNP	C	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:7324267C>A	uc002ggv.3	+	2	298	c.273C>A	c.(271-273)gtC>gtA	p.V91V	SPEM1_uc010vtw.1_Intron	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	91					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CTCCTGCAGTCCATCTTCGGT	0.597000														177			120		4.46965e-45	5.58706e-45	0.014410	1	0
SLC22A16	85413	broad.mit.edu	37	6	110757106	110757106	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr6:110757106G>A	uc003puf.3	-	5	1437	c.1370C>T	c.(1369-1371)gCa>gTa	p.A457V	SLC22A16_uc003pue.3_Missense_Mutation_p.A438V	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	457					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GAGGCCAAATGCTGCCCCGAT	0.363000														70			34		0	0	0.003271	0	0
DGKB	1607	broad.mit.edu	37	7	14712573	14712573	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:14712573G>T	uc003ssz.3	-	11	1302	c.1115C>A	c.(1114-1116)aCa>aAa	p.T372K	DGKB_uc011jxt.2_Missense_Mutation_p.T365K|DGKB_uc003sta.3_Missense_Mutation_p.T372K|DGKB_uc011jxu.2_Missense_Mutation_p.T372K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	372					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGGACAGATTGTTGTGGGTGG	0.383000														0			2		0.0016	0.0017037	0.004672	1	0
GPR128	84873	broad.mit.edu	37	3	100349576	100349576	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:100349576T>G	uc003duc.3	+	2	525	c.257T>G	c.(256-258)aTg>aGg	p.M86R		NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	86					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AGTACCTATATGGGTTTTACT	0.318000														10			3		0	0	0.004672	0	0
HSD17B14	51171	broad.mit.edu	37	19	49316535	49316535	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:49316535A>C	uc002pkv.1	-	8	976	c.710T>G	c.(709-711)tTc>tGc	p.F237C	BCAT2_uc002pkq.4_5'Flank|BCAT2_uc002pks.3_5'Flank|BCAT2_uc002pkr.3_5'Flank|BCAT2_uc002pkt.3_5'Flank|BCAT2_uc010emh.2_5'Flank|BCAT2_uc010emi.2_5'Flank|BCAT2_uc010emj.2_5'Flank|HSD17B14_uc010emk.1_Missense_Mutation_p.S205A	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 14 (HSD17B14), mRNA.	237					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GCCCGTGCAGAAGTTGGCTTC	0.677000														20			17		0	0	0.007413	0	0
GUCY2D	3000	broad.mit.edu	37	17	7919305	7919305	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:7919305A>C	uc002gjt.2	+	16	3178	c.3104A>C	c.(3103-3105)tAc>tCc	p.Y1035S		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	1035					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GACTCGGGCTACCAGGTGGAG	0.697000														20			9		0	0	0.010729	0	0
BC080605	0	broad.mit.edu	37	9	68414259	68414259	+	RNA	SNP	C	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr9:68414259C>T	uc004aex.3	+	0		c.814C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ccacagtggcctcaaagaact	0.483000														8			4		0	0	0.000602	0	0
TRIM48	79097	broad.mit.edu	37	11	55032729	55032729	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr11:55032729G>T	uc010rid.2	+	1	484	c.398G>T	c.(397-399)aGc>aTc	p.S133I		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	117						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTGTGCTCCAGCTCTCAGGAG	0.507000														6			8		5.18039e-06	5.72832e-06	0.003080	1	0
MAP7	9053	broad.mit.edu	37	6	136709627	136709627	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr6:136709627G>A	uc011edg.2	-	4	745	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	MAP7_uc011edf.2_Missense_Mutation_p.R129W|MAP7_uc010kgu.3_Missense_Mutation_p.R166W|MAP7_uc011edh.2_Missense_Mutation_p.R166W|MAP7_uc010kgv.3_Missense_Mutation_p.R166W|MAP7_uc010kgs.3_5'UTR|MAP7_uc011edi.2_5'UTR|MAP7_uc010kgq.2_Intron|MAP7_uc003qgz.3_Missense_Mutation_p.R144W|MAP7_uc003qha.2_Missense_Mutation_p.R144W|MAP7_uc010kgr.2_5'UTR|MAP7_uc010kgt.2_Missense_Mutation_p.R166W	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	144					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ATTGTGCGCCGTACAACAGCT	0.498000														86			44		0	0	0.009718	0	0
CLCN6	1185	broad.mit.edu	37	1	11888206	11888206	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:11888206G>A	uc001ate.4	+	10	997	c.884G>A	c.(883-885)cGt>cAt	p.R295H	CLCN6_uc009vnf.1_Silent_p.P298P|CLCN6_uc009vng.1_Silent_p.P286P|CLCN6_uc009vnh.1_Missense_Mutation_p.R295H|CLCN6_uc010oat.2_Missense_Mutation_p.R11H|CLCN6_uc010oau.2_Missense_Mutation_p.R273H	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	295					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AACTTCTTCCGTTCTGGGATT	0.483000														765			43		0	0	0.014410	0	0
PRDM15	63977	broad.mit.edu	37	21	43221789	43221789	+	Missense_Mutation	SNP	C	G	G	rs139717863		TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr21:43221789C>G	uc002yzq.1	-	30	4246	c.4135G>C	c.(4135-4137)Gcg>Ccg	p.A1379P	PRDM15_uc002yzo.3_Missense_Mutation_p.A1050P|PRDM15_uc002yzp.3_Missense_Mutation_p.A1070P|PRDM15_uc002yzr.1_Missense_Mutation_p.A1070P	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AACTGAGTCGCGGCCGCAGTG	0.582000														65			38		0	0	0.009718	0	0
IGSF9B	22997	broad.mit.edu	37	11	133805658	133805658	+	Splice_Site	SNP	C	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr11:133805658C>T	uc001qgx.4	-	7	1053	c.822_splice	c.e7-1	p.N274_splice	IGSF9B_uc001qgy.1_Splice_Site_p.N116_splice	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	274	Ig-like 3.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTTCAGGTCGCTGCAAAGCGG	0.617000														22			28		0	0	0.007291	0	0
CACNA1S	779	broad.mit.edu	37	1	201039482	201039482	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:201039482G>A	uc001gvv.3	-	16	2505	c.2278C>T	c.(2278-2280)Ccc>Tcc	p.P760S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	760					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.P760L(1)|p.R759C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCAGCCAGGGGACGTGGTCGG	0.587000														212			107		0	0	0.014410	0	0
FAT1	2195	broad.mit.edu	37	4	187549407	187549407	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr4:187549407C>A	uc003izf.3	-	8	4899	c.4711G>T	c.(4711-4713)Gtt>Ttt	p.V1571F		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1571	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATTCATAAACCCGCCCTTTG	0.527000										HNSCC(5;0.00058)				34			23		9.65021e-13	1.12098e-12	0.010818	1	0
ZNF10	7556	broad.mit.edu	37	12	133732280	133732280	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr12:133732280G>C	uc009zzb.3	+	4	895	c.448G>C	c.(448-450)Gtg>Ctg	p.V150L	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.V150L	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	150				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTTGAGGCAAGTGGCATTCAC	0.428000														31			10		0	0	0.006214	0	0
EP300	2033	broad.mit.edu	37	22	41572951	41572951	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr22:41572951T>A	uc003azl.4	+	30	5631	c.5236T>A	c.(5236-5238)Tgc>Agc	p.C1746S		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1746	Binding region for E1A adenovirus.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGTCCATGCTTGCCAGTGTCG	0.572000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					105			40		0	0	0.014410	0	0
C2orf80	389073	broad.mit.edu	37	2	209045533	209045533	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr2:209045533A>C	uc002vcr.3	-	5	474	c.302T>G	c.(301-303)aTc>aGc	p.I101S		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.	101										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CTCAATCGGGATACTGTTCTG	0.363000														55			24		0	0	0.014323	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														17			5		0	0	0.001168	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	C	C	rs77768218		TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr2:96521777T>C	uc002suz.1	-	30	2790	c.1313A>G	c.(1312-1314)cAt>cGt	p.H438R						SubName: Full=Uncharacterized protein;									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000														5			2		0	0	0.004672	0	0
COX8A	1351	broad.mit.edu	37	11	63743765	63743765	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr11:63743765C>G	uc001nye.3	+	1	257	c.183C>G	c.(181-183)caC>caG	p.H61Q		NM_004074	NP_004065	P10176	COX8A_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIIA (ubiquitous) (COX8A), mRNA.	61					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity										TCCTGTCACACCTGGAGACCT	0.587000														316			110		0	0	0.014410	0	0
TIMM44	10469	broad.mit.edu	37	19	8002997	8002997	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:8002997T>A	uc002miz.3	-	2	399	c.227A>T	c.(226-228)gAa>gTa	p.E76V	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	76					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TTCTTTCATTTCTTTGTTTTT	0.393000														290			153		0	0	0.014410	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864027	47864027	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr20:47864027T>G	uc002xui.3	-	13	5781	c.5534A>C	c.(5533-5535)cAc>cCc	p.H1845P		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1845							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTGAACCAGTGACCACGAGG	0.547000														128			79		0	0	0.014410	0	0
SMG1	23049	broad.mit.edu	37	16	18851234	18851234	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:18851234C>T	uc002dfm.3	-	41	7094	c.6731G>A	c.(6730-6732)gGa>gAa	p.G2244E	SMG1_uc010bwb.3_Missense_Mutation_p.G2104E|SMG1_uc010bwa.3_Missense_Mutation_p.G975E|SMG1_uc021ted.1_Missense_Mutation_p.G542E	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2244	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GGGTACAATTCCAGGATTCTG	0.388000														11			3		0	0	0.004672	0	0
ZC3H18	124245	broad.mit.edu	37	16	88653023	88653023	+	Nonsense_Mutation	SNP	G	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:88653023G>T	uc010voz.2	+	2	819	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	ZC3H18_uc021tmm.1_Nonsense_Mutation_p.E207*|ZC3H18_uc010voy.1_Nonsense_Mutation_p.E90*|ZC3H18_uc002fky.3_Nonsense_Mutation_p.E207*|ZC3H18_uc010vpa.1_Nonsense_Mutation_p.E207*	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	207						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGACCTGGAAGAAGGTGAAGT	0.542000														109			34		1.60099e-16	1.87871e-16	0.004878	1	0
GPRC5B	51704	broad.mit.edu	37	16	19884048	19884048	+	Silent	SNP	G	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr16:19884048G>A	uc010vav.2	-	1	429	c.198C>T	c.(196-198)gaC>gaT	p.D66D	GPRC5B_uc021tef.1_Silent_p.D32D|GPRC5B_uc002dgt.3_Silent_p.D40D	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	40										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GAGGGAGGAGGTCCAGCCCAC	0.637000														98			70		0	0	0.014410	0	0
NOD1	10392	broad.mit.edu	37	7	30475651	30475651	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:30475651T>A	uc003tav.3	-	10	3107	c.2584A>T	c.(2584-2586)Agg>Tgg	p.R862W		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	862					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	p.A861A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGCAGGGCCCTCGCAAGGCTC	0.443000														99			43		0	0	0.014410	0	0
ACTR5	79913	broad.mit.edu	37	20	37400319	37400319	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr20:37400319G>C	uc002xjd.2	+	8	1709	c.1684G>C	c.(1684-1686)Gga>Cga	p.G562R		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	562					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AGAAAAGGGAGGAGAGTACCT	0.557000														104			70		0	0	0.014410	0	0
YBX2	51087	broad.mit.edu	37	17	7193332	7193332	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:7193332C>A	uc002gfq.2	-	5	860	c.803G>T	c.(802-804)gGa>gTa	p.G268V		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	268	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TCGCTCATCTCCCTGCTGTTG	0.632000														126			83		7.90906e-34	9.67597e-34	0.014410	1	0
FANK1	92565	broad.mit.edu	37	10	127585218	127585218	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr10:127585218C>A	uc009yan.3	+	0	111	c.7C>A	c.(7-9)Ccc>Acc	p.P3T	DHX32_uc001ljg.1_5'Flank|FANK1_uc010quk.1_5'UTR|FANK1_uc001ljh.4_Missense_Mutation_p.P3T	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	3						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GACCATGGAGCCCCAGAGTAA	0.761000														17			3		6.4e-05	6.9434e-05	0.004672	1	0
RFC1	5981	broad.mit.edu	37	4	39325032	39325032	+	Silent	SNP	C	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr4:39325032C>T	uc003gty.2	-	6	788	c.648G>A	c.(646-648)gaG>gaA	p.E216E	RFC1_uc003gtx.2_Silent_p.E216E|RFC1_uc003gtz.2_Silent_p.E100E	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	216					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCAACTGCCTCTCCAGCTGTA	0.373000														15			9		0	0	0.008291	0	0
CA6	765	broad.mit.edu	37	1	9009376	9009376	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:9009376delA	uc001apm.3	+	1	158	c.134delA	c.(133-135)cagfs	p.Q45fs	CA6_uc021ofu.1_Non-coding_Transcript|CA6_uc009vmn.3_Intron	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	45					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	p.G44G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGGGGGCCAGAGACAGTCG	0.602													---	95	---	---	59	---					
PABPC4	8761	broad.mit.edu	37	1	40038242	40038242	+	Frame_Shift_Del	DEL	G	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr1:40038242delG	uc001cdl.2	-	1	1108	c.210delC	c.(208-210)gacfs	p.D70fs	PABPC4_uc010oiv.1_Frame_Shift_Del_p.D70fs|PABPC4_uc001cdm.2_Frame_Shift_Del_p.D70fs	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	70	RRM 1.				RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGTTCATGGTGTCCAAAGCCC	0.468													---	85	---	---	34	---					
LCLAT1	253558	broad.mit.edu	37	2	30863165	30863173	+	In_Frame_Del	DEL	GAAGAGAAA	-	-	rs150085223		TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr2:30863165_30863173delGAAGAGAAA	uc002rnj.3	+	6	1134_1142	c.925_933delGAAGAGAAA	c.(925-933)gaagagaaadel	p.EEK309del	LCLAT1_uc010ymp.2_In_Frame_Del_p.EEK147del|LCLAT1_uc002rnl.3_In_Frame_Del_p.EEK271del|LCLAT1_uc010ymq.2_In_Frame_Del_p.EEK271del	NM_182551	NP_001002257	Q6UWP7	LCLT1_HUMAN	Homo sapiens lysocardiolipin acyltransferase 1 (LCLAT1), transcript variant 1, mRNA.	309					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CAAACGGTGGGAAGAGAAAGAAGAGAGGC	0.498													---	165	---	---	23	---					
MAT2A	4144	broad.mit.edu	37	2	85769094	85769097	+	Splice_Site	DEL	AAGT	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr2:85769094_85769097delAAGT	uc002spr.3	+	5	859	c.549_splice	c.e5+1	p.Q183_splice	MAT2A_uc010ysr.2_Splice_Site_p.Q183_splice|MAT2A_uc010fgl.2_Splice_Site_p.Q120_splice|MAT2A_uc010fgm.1_3'UTR	NM_005911	NP_005902	P31153	METK2_HUMAN	Homo sapiens methionine adenosyltransferase II, alpha (MAT2A), mRNA.	183					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTAAAACTCAAGTAAGTGATGAT	0.382													---	39	---	---	13	---					
C3orf17	25871	broad.mit.edu	37	3	112736366	112736368	+	In_Frame_Del	DEL	CAT	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr3:112736366_112736368delCAT	uc003dzr.3	-	1	249_251	c.188_190delATG	c.(187-192)gatgtg>gtg	p.D63del	C3orf17_uc011bia.2_Intron|C3orf17_uc003dzu.3_In_Frame_Del_p.D62del|C3orf17_uc011bib.2_Intron|C3orf17_uc011bic.2_Intron|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Intron|C3orf17_uc003dzt.3_Intron|C3orf17_uc003dzs.3_Intron|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	63						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GCACATAACACATCTGTTTCTGC	0.478													---	64	---	---	23	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	Frame_Shift_Del	DEL	AGAGCTCC	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:74300557_74300564delAGAGCTCC	uc022afy.1	-	2	316_323	c.243_250delGGAGCTCT	c.(241-252)ctggagctcttcfs	p.L81fs	STAG3L2_uc011kfj.2_Non-coding_Transcript|STAG3L2_uc022afz.1_Non-coding_Transcript			P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.	81	SCD.					nucleus	binding	p.E82fs*32(4)|p.R80C(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													---	20	---	---	8	---					
ING3	54556	broad.mit.edu	37	7	120590817	120590817	+	Splice_Site	DEL	T	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr7:120590817delT	uc003vjn.3	+	1	1	c.-133_splice	c.e1-1		ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					tttttttttcttttttttttt	0.542													---	191	---	---	11	---					
SEC16A	9919	broad.mit.edu	37	9	139369195	139369195	+	Frame_Shift_Del	DEL	G	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr9:139369195delG	uc004chx.3	-	2	3182	c.2873delC	c.(2872-2874)cctfs	p.P958fs	SEC16A_uc004chv.4_Intron|SEC16A_uc004chw.3_Frame_Shift_Del_p.P958fs|SEC16A_uc010nbn.3_Frame_Shift_Del_p.P958fs|SEC16A_uc010nbo.1_Frame_Shift_Del_p.P958fs	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	780	Pro-rich.|Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCTTCCAGCAGGGCTATTAGC	0.507													---	138	---	---	76	---					
LRRC4C	57689	broad.mit.edu	37	11	40136626	40136630	+	Frame_Shift_Del	DEL	AGCAC	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr11:40136626_40136630delAGCAC	uc021qgf.1	-	0	1213_1217	c.1213_1217delGTGCT	c.(1213-1218)gtgctcfs	p.V405fs	LRRC4C_uc001mxc.1_Frame_Shift_Del_p.V401fs|LRRC4C_uc001mxd.1_Frame_Shift_Del_p.V401fs|LRRC4C_uc001mxa.1_Frame_Shift_Del_p.V405fs|LRRC4C_uc001mxb.1_Frame_Shift_Del_p.V401fs	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	405	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding	p.L406L(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACCATCACTGAGCACAGCTATCCGC	0.454													---	174	---	---	50	---					
FGF3	2248	broad.mit.edu	37	11	69625463	69625464	+	Frame_Shift_Ins	INS	-	T	T			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr11:69625463_69625464insT	uc001oph.3	-	2	820_821	c.329_330insA	c.(328-330)cacfs	p.H110fs		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	110					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CGGCGCTGTAGTGCTCCTGCGG	0.639													---	117	---	---	54	---					
CLEC4D	338339	broad.mit.edu	37	12	8667926	8667932	+	Splice_Site	DEL	TAAGTTA	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr12:8667926_8667932delTAAGTTA	uc001qun.3	+	2	314	c.121_splice	c.e2+2	p.V41_splice		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	41					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GTTGTTTGGGTAAGTTATTAGCCAAAG	0.372													---	32	---	---	8	---					
ITGA7	3679	broad.mit.edu	37	12	56096870	56096870	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr12:56096870delT	uc001shh.3	-	1	519	c.299delA	c.(298-300)gagfs	p.E100fs	ITGA7_uc001shg.3_Frame_Shift_Del_p.E100fs|ITGA7_uc010sps.2_Intron|ITGA7_uc009znx.3_5'Flank	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	100					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCAGTCAGTCTCCTCCAGGCT	0.642													---	236	---	---	130	---					
KIAA1033	23325	broad.mit.edu	37	12	105512257	105512259	+	In_Frame_Del	DEL	GTG	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr12:105512257_105512259delGTG	uc010swr.2	+	6	556_558	c.469_471delGTG	c.(469-471)gtgdel	p.V158del	KIAA1033_uc001tld.3_In_Frame_Del_p.V158del|KIAA1033_uc010sws.2_5'UTR	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	158					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTGCTATGAAGTGGTGATGAACG	0.340													---	25	---	---	11	---					
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr13:100635008_100635010delCCA	uc001von.3	+	0	983_985	c.690_692delCCA	c.(688-693)gcccac>gcc	p.H239del		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	239	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-His.		H -> HH.|Missing.		brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621													---	111	---	---	7	---					
OCA2	4948	broad.mit.edu	37	15	28200305	28200305	+	Splice_Site	DEL	T	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr15:28200305delT	uc001zbh.4	-	17	1952	c.1842_splice	c.e17+1	p.K614_splice	OCA2_uc010ayv.3_Splice_Site_p.K590_splice	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	614			K -> E (in OCA2).|K -> N (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTACCTTTTTTTGGAG	0.443									Oculocutaneous Albinism				---	509	---	---	7	---					
SLC16A13	201232	broad.mit.edu	37	17	6942168	6942169	+	In_Frame_Ins	INS	-	ATA	ATA			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr17:6942168_6942169insATA	uc002geh.3	+	2	1349_1350	c.1041_1042insATA	c.(1039-1044)insATA	p.348_349insI		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	348						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TGTTGCAGATGATAGAGAGCAT	0.589													---	342	---	---	118	---					
RAB11B	9230	broad.mit.edu	37	19	8468330	8468331	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:8468330_8468331delCA	uc002mju.4	+	4	641_642	c.545_546delCA	c.(544-546)gcafs	p.A182fs	RAB11B_uc021uof.1_Non-coding_Transcript	NM_004218	NP_004209	Q15907	RB11B_HUMAN	Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA.	182					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						AAACAGATCGCAGACCGCGCTG	0.653													---	182	---	---	75	---					
DOCK6	57572	broad.mit.edu	37	19	11324999	11325018	+	Frame_Shift_Del	DEL	GGCACTCTGGGCACTGCCCA	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr19:11324999_11325018delGGCACTCTGGGCACTGCCCA	uc002mqs.4	-	33	4312_4331	c.4271_4290delTGGGCAGTGCCCAGAGTGCC	c.(4270-4290)ctgggcagtgcccagagtgccfs	p.L1424fs	DOCK6_uc010xlq.2_Frame_Shift_Del_p.L763fs	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1424					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCAAGAAGAGGGCACTCTGGGCACTGCCCAGGCTGTACAG	0.568													---	103	---	---	14	---					
CEP250	11190	broad.mit.edu	37	20	34091451	34091451	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B9-4116-01A-01D-1252-08	TCGA-B9-4116-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	847c8d58-eb11-487b-bc85-d58a4d47fae7	21d19fa5-2fc4-4abc-8810-947be94de078	g.chr20:34091451delA	uc021wco.1	+	29	5901	c.5254delA	c.(5254-5256)aaafs	p.K1752fs	CEP250_uc010zve.2_Frame_Shift_Del_p.K1120fs	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1752	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCAGGAGCTCAAAGACCAGCT	0.577													---	212	---	---	105	---					
