Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PLK1	5347	broad.mit.edu	37	16	23690256	23690256	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:23690256G>A	ENST00000300093.4	+	1	114	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	1					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TCGGGAGCATGAGTGCTGCAG	0.682000													3	3					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30965216	30965216	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:30965216G>A	ENST00000295055.8	-	14	1631	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	CAPN13_ENST00000534090.2_Silent_p.S485S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	485					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGAAATGGCTGCTCAGGTGCC	0.532000													5	8					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66432402	66432402	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:66432402G>A	ENST00000341529.3	+	10	1677	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	510	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ATAACACCACGAAACGTGAAG	0.488000													16	35					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50717351	50717351	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:50717351C>T	ENST00000449103.1	-	28	4619	c.4479G>A	c.(4477-4479)aaG>aaA	p.K1493K	PLXNB2_ENST00000359337.4_Silent_p.K1493K			O15031	PLXB2_HUMAN	plexin B2	1493					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCAATGATCTTCTCCTTGA	0.642000													11	31					0	0	1	0	0
ERGIC2	51290	broad.mit.edu	37	12	29498396	29498396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:29498396G>A	ENST00000360150.4	-	11	880	c.805C>T	c.(805-807)Cag>Tag	p.Q269*		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	269					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	ACAGAAAACTGATGGGTGTCT	0.303000													42	91					0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18650429	18650429	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:18650429C>G	ENST00000608443.1	-	3	593	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	FKBP8_ENST00000597960.3_Missense_Mutation_p.E132Q|FKBP8_ENST00000222308.4_Missense_Mutation_p.E132Q|FKBP8_ENST00000596558.2_Missense_Mutation_p.E132Q|FKBP8_ENST00000453489.2_Missense_Mutation_p.E161Q|FKBP8_ENST00000610101.1_Intron			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa		PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GTGCCATTCTCCAGCGACGTC	0.667000													71	83					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115610376	115610376	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:115610376G>C	ENST00000361384.2	-	2	1405	c.488C>G	c.(487-489)tCa>tGa	p.S163*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.S163*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	163	Nuclear localization region.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AGGAATGGTTGAGGTACACAG	0.408000								Other identified genes with known or suspected DNA repair function					9	20					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147090999	147090999	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:147090999G>C	ENST00000234739.3	+	8	1778	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	346	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CACTGGGAGAGAATCCCGATG	0.577000			T	"""IGH@, IGL@"""	B-ALL								74	167					0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99823896	99823896	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:99823896C>G	ENST00000254759.3	-	5	673	c.649G>C	c.(649-651)Gat>Cat	p.D217H	COQ3_ENST00000369240.1_Intron|COQ3_ENST00000369242.1_Intron	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	217					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	p.D217H(1)		cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ACAACAGCATCAAATGTTTCT	0.388000													40	116					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005847	74005847	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:74005847C>T	ENST00000301607.3	-	22	3692	c.3439G>A	c.(3439-3441)Ggg>Agg	p.G1147R	EVPL_ENST00000586740.1_Missense_Mutation_p.G1169R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1147	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGAGGAGCCCTGGGTCCTGC	0.632000													30	55					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129771250	129771250	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:129771250C>G	ENST00000338144.3	-	12	1768	c.1351G>C	c.(1351-1353)Gaa>Caa	p.E451Q	ENOX2_ENST00000394363.1_Missense_Mutation_p.E422Q|ENOX2_ENST00000370935.1_Missense_Mutation_p.E422Q|ENOX2_ENST00000370927.1_Missense_Mutation_p.E451Q	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	451					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AGCTGCTGTTCTTTGTTAGGG	0.473000													83	44					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112308378	112308378	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:112308378G>C	ENST00000475700.1	+	3	2514	c.156G>C	c.(154-156)ctG>ctC	p.L52L	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000369702.4_Silent_p.L444L			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	444					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCTGGTCTGATGGAAGAAT	0.353000													38	74					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75017811	75017811	+	Nonsense_Mutation	SNP	G	G	A	rs137854855		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:75017811G>A	ENST00000261978.4	-	7	2028	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	LTBP2_ENST00000556690.1_Nonsense_Mutation_p.R548*|LTBP2_ENST00000557425.1_5'UTR	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	548					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGCAGTCCTCGAGGCCTGGGT	0.652000													15	39					0	0	1	0	0
CCDC101	112869	broad.mit.edu	37	16	28601977	28601977	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:28601977G>C	ENST00000317058.3	+	8	779	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	198	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CATCGATGAAGAAGGCAAAGA	0.577000													77	138					0	0	1	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805964	27805964	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:27805964G>A	ENST00000330180.2	-	1	153	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	52					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						ACCGCCGCCAGGTACACCGGC	0.652000													4	63					0	0	1	0	0
VPS9D1	9605	broad.mit.edu	37	16	89779125	89779125	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:89779125C>T	ENST00000561976.1	-	4	599		c.e4-1		VPS9D1_ENST00000389386.3_Splice_Site|VPS9D1-AS1_ENST00000562866.1_RNA					VPS9 domain containing 1																		CGTCAGCTCTCTGGAAATGTG	0.607000													9	26					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43372352	43372352	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:43372352G>A	ENST00000244296.2	-	5	1281	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	PSG1_ENST00000595124.1_Missense_Mutation_p.R289C|PSG1_ENST00000436291.2_Missense_Mutation_p.R382C|PSG1_ENST00000595356.1_Missense_Mutation_p.R382C|PSG1_ENST00000312439.6_Missense_Mutation_p.R382C|PSG1_ENST00000403380.3_Missense_Mutation_p.R289C	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GTAATATGGCGGATAAAGAGC	0.463000													87	198					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54647809	54647809	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:54647809G>T	ENST00000406403.1	+	5	1929	c.326G>T	c.(325-327)gGc>gTc	p.G109V	CNOT3_ENST00000221232.5_Missense_Mutation_p.G109V|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	109					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGGGCCTGGGCCTGGCCCAG	0.547000													22	55					2.37509e-13	2.50143e-13	1	1	0
CLEC10A	10462	broad.mit.edu	37	17	6980295	6980295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:6980295G>A	ENST00000576617.1	-	4	465	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	CLEC10A_ENST00000571664.1_Nonsense_Mutation_p.Q66*|CLEC10A_ENST00000416562.2_Nonsense_Mutation_p.Q66*|CLEC10A_ENST00000254868.4_Nonsense_Mutation_p.Q66*			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	66					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGGTCCCTCTGAAATTTGGAA	0.517000													32	47					0	0	1	0	0
PIGN	23556	broad.mit.edu	37	18	59824982	59824982	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:59824982G>T	ENST00000357637.5	-	5	696	c.281C>A	c.(280-282)tCt>tAt	p.S94Y	PIGN_ENST00000400334.3_Missense_Mutation_p.S94Y	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	94					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ACCTGGCCGAGATTCTGTTGG	0.378000													5	20					0.000602214	0.000608359	1	1	0
MARCH6	10299	broad.mit.edu	37	5	10402684	10402684	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:10402684C>G	ENST00000274140.5	+	14	1294	c.1162C>G	c.(1162-1164)Ctc>Gtc	p.L388V	MARCH6_ENST00000503788.1_Missense_Mutation_p.L283V|MARCH6_ENST00000510792.1_Missense_Mutation_p.L86V|MARCH6_ENST00000449913.2_Missense_Mutation_p.L340V	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	388					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGTATTCCCTCTCATTTGTGG	0.358000													86	183					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73572328	73572328	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:73572328G>C	ENST00000224721.6	+	66	9492	c.9487G>C	c.(9487-9489)Gag>Cag	p.E3163Q	CDH23_ENST00000398788.3_Missense_Mutation_p.E918Q|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3158					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GAACCTGAGTGAGATCGCCGA	0.642000													39	72					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72292403	72292403	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:72292403G>A	ENST00000334456.5	-	23	2288	c.2043C>T	c.(2041-2043)ctC>ctT	p.L681L	PDE2A_ENST00000540345.1_Silent_p.L672L|PDE2A_ENST00000444035.2_Silent_p.L672L|PDE2A_ENST00000418754.2_Silent_p.L566L|PDE2A_ENST00000376450.3_Silent_p.L425L|PDE2A_ENST00000544570.1_Silent_p.L674L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	681	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCACTCACTCGAGGTAGTTGG	0.602000													16	30					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798949	39798949	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:39798949G>C	ENST00000248668.4	-	2	1639	c.1640C>G	c.(1639-1641)tCg>tGg	p.S547W		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	547						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GACGAGGACCGAGGCGACGAT	0.667000													11	34					0	0	1	0	0
PARD6A	50855	broad.mit.edu	37	16	67696116	67696116	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:67696116G>A	ENST00000458121.2	+	3	695	c.604G>A	c.(604-606)Gct>Act	p.A202T	PARD6A_ENST00000219255.3_Missense_Mutation_p.A203T|PARD6A_ENST00000602551.1_Missense_Mutation_p.A173T	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	203	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGGGGTCTGGCTGAGAGTAC	0.597000													39	67					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65104787	65104787	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:65104787G>A	ENST00000358691.5	-	30	4711	c.4545C>T	c.(4543-4545)ttC>ttT	p.F1515F	HELZ_ENST00000580168.1_Silent_p.F1516F	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCACTGCTGGAACCGTGCCT	0.502000													37	61					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091193	29091193	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:29091193G>C	ENST00000544772.1	-	13	2070	c.634C>G	c.(634-636)Caa>Gaa	p.Q212E	CHEK2_ENST00000402731.1_Missense_Mutation_p.Q404E|CHEK2_ENST00000405598.1_Missense_Mutation_p.Q433E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.Q476E|CHEK2_ENST00000382578.1_Missense_Mutation_p.Q342E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.Q404E|CHEK2_ENST00000328354.6_Missense_Mutation_p.Q433E|CHEK2_ENST00000404276.1_Missense_Mutation_p.Q433E|CHEK2_ENST00000403642.1_Missense_Mutation_p.Q342E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	433					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AGTGACACTTGAGTCCTATGC	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					11	28					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	865617	865617	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:865617C>G	ENST00000342066.3	+	3	238	c.155C>G	c.(154-156)tCt>tGt	p.S52C	AL645608.1_ENST00000598827.1_Missense_Mutation_p.R42T	NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	52						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCCAGCTTCTCTGCCAGCGAT	0.657000													6	20					0	0	1	0	0
DDIT4L	115265	broad.mit.edu	37	4	101109268	101109268	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:101109268C>T	ENST00000273990.2	-	3	362	c.148G>A	c.(148-150)Gag>Aag	p.E50K	RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	50					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		GTTGATTCCTCAAATATTACC	0.368000													45	72					0	0	1	0	0
TTLL8	164714	broad.mit.edu	37	22	50470355	50470355	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:50470355G>A	ENST00000266182.6	-	11	1466	c.1467C>T	c.(1465-1467)caC>caT	p.H489H	TTLL8_ENST00000440475.1_Silent_p.H469H					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CCTTCATGGCGTGGGCGATGG	0.642000													25	36					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328322	61328322	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:61328322T>A	ENST00000283752.5	-	2	272	c.129A>T	c.(127-129)ttA>ttT	p.L43F	SERPINB3_ENST00000332821.8_Missense_Mutation_p.L43F|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	43					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CTTTGGCTCCTAAGAGGACCA	0.438000													40	100					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													5	48					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367796	99367796	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:99367796C>T	ENST00000336411.2	-	5	564	c.381G>A	c.(379-381)aaG>aaA	p.K127K	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	127					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ATCGTAATCTCTTCCATTCTT	0.378000													34	58					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132182552	132182552	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:132182552G>C	ENST00000260818.6	+	17	2031	c.1783G>C	c.(1783-1785)Gaa>Caa	p.E595Q	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	595							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGGTGATAAAGAAATTGCTAC	0.383000													24	42					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120208662	120208662	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:120208662C>T	ENST00000392521.2	-	18	2190	c.2135G>A	c.(2134-2136)cGt>cAt	p.R712H	CIT_ENST00000261833.7_Intron|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	694					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.R713H(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTTTTCTCTACGCTCCATGGT	0.438000													30	76					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69693744	69693744	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:69693744C>G	ENST00000349945.1	+	8	2581	c.1029C>G	c.(1027-1029)atC>atG	p.I343M	NFAT5_ENST00000432919.1_Missense_Mutation_p.I437M|NFAT5_ENST00000566899.1_Missense_Mutation_p.I343M|NFAT5_ENST00000567239.1_Missense_Mutation_p.I437M|NFAT5_ENST00000354436.2_Missense_Mutation_p.I419M|NFAT5_ENST00000393742.2_Missense_Mutation_p.I343M	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	419	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GAGTTAATATCATGAGGAAAG	0.398000													46	61					0	0	1	0	0
PIANP	196500	broad.mit.edu	37	12	6806635	6806635	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:6806635C>T	ENST00000534837.1	-	3	570	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	PIANP_ENST00000540656.1_Missense_Mutation_p.R114Q|PIANP_ENST00000320591.5_Missense_Mutation_p.R114Q	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		TCCATCCTCTCGAGACACGGT	0.632000													16	24					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40063789	40063789	+	Missense_Mutation	SNP	G	G	A	rs139584437		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:40063789G>A	ENST00000352035.2	-	7	783	c.653C>T	c.(652-654)gCg>gTg	p.A218V	ACLY_ENST00000590151.1_Missense_Mutation_p.A218V|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Missense_Mutation_p.A218V|ACLY_ENST00000393896.2_Missense_Mutation_p.A218V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	218					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CACCTTGGCCGCCAAGTCAAG	0.567000													4	90					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091207	29091207	+	Missense_Mutation	SNP	G	G	A	rs137853011	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:29091207G>A	ENST00000544772.1	-	13	2056	c.620C>T	c.(619-621)tCt>tTt	p.S207F	CHEK2_ENST00000402731.1_Missense_Mutation_p.S399F|CHEK2_ENST00000405598.1_Missense_Mutation_p.S428F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.S471F|CHEK2_ENST00000382578.1_Missense_Mutation_p.S337F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.S399F|CHEK2_ENST00000328354.6_Missense_Mutation_p.S428F|CHEK2_ENST00000404276.1_Missense_Mutation_p.S428F|CHEK2_ENST00000403642.1_Missense_Mutation_p.S337F	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	428					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCTATGCTCAGAGAAAGGTGG	0.398000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					11	29					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	47					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531056	92531056	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:92531056G>A	ENST00000298047.6	+	9	4894	c.4877G>A	c.(4876-4878)tGc>tAc	p.C1626Y	FAT3_ENST00000525166.1_Missense_Mutation_p.C1476Y|FAT3_ENST00000409404.2_Missense_Mutation_p.C1626Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1626	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCACCATTTGCAAAGAACCA	0.453000										TCGA Ovarian(4;0.039)			47	73					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64032574	64032574	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:64032574C>T	ENST00000540288.1	+	23	2907	c.2804C>T	c.(2803-2805)cCa>cTa	p.P935L	PLCB3_ENST00000279230.6_Missense_Mutation_p.P935L|PLCB3_ENST00000325234.5_Missense_Mutation_p.P868L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	935					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTCAGCAGCCCAGGTAAGGAG	0.721000													3	4					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57543222	57543222	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:57543222G>A	ENST00000311180.8	+	1	1219	c.1116G>A	c.(1114-1116)ggG>ggA	p.G372G	PDE12_ENST00000487257.1_Silent_p.G372G	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	372							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GGCTCGAGGGGGTGTTTCGAA	0.547000													11	42					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41556722	41556722	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:41556722C>G	ENST00000263253.7	+	20	4886	c.3667C>G	c.(3667-3669)Caa>Gaa	p.Q1223E		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1223					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|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	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)		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						TTCCCAGCCTCAAACGTAAGT	0.413000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				26	41					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761768	55761768	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:55761768A>G	ENST00000278409.1	-	1	333	c.334T>C	c.(334-336)Tgc>Cgc	p.C112R		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGAGGATGCATTCGGTTGTC	0.473000													42	103					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22005745	22005745	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:22005745C>A	ENST00000306317.2	-	8	1864	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	LGI3_ENST00000424267.2_Missense_Mutation_p.Q501H	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	525					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCAGGAGTAGCTGGGCGTCCC	0.607000													34	39					7.11191e-15	7.51686e-15	1	1	0
FANCA	2175	broad.mit.edu	37	16	89845229	89845229	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:89845229C>T	ENST00000389301.3	-	20	1836	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	FANCA_ENST00000568369.1_Silent_p.A602A|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	602					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACTCTATAAACGCCACACGGG	0.478000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				44	84					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130482603	130482603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr9:130482603G>T	ENST00000373289.3	+	6	666	c.586G>T	c.(586-588)Gag>Tag	p.E196*	TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_Nonsense_Mutation_p.E20*|PTRH1_ENST00000429848.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	196							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CATCACCAACGAGCTGAAGCA	0.622000													50	37					4.18559e-23	4.4878e-23	1	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72125097	72125097	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:72125097G>A	ENST00000555818.1	+	6	2389	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E681K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E681K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E156K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	681	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAAAGATTATGAAATTATGTT	0.348000													20	35					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406520	55406520	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:55406520G>C	ENST00000314612.2	+	1	687	c.687G>C	c.(685-687)gaG>gaC	p.E229D		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ACTCTGCAGAGAGACGCAGCA	0.383000													26	56					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392337	178392337	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:178392337G>T	ENST00000320129.3	+	5	1235	c.932G>T	c.(931-933)tGc>tTc	p.C311F	ZNF454_ENST00000519564.1_Missense_Mutation_p.C311F	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GCCTTTGTGTGCAGGGCACAC	0.378000													21	22					7.33628e-21	7.83768e-21	1	1	0
FAM208A	23272	broad.mit.edu	37	3	56680888	56680888	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:56680888T>C	ENST00000431842.2	-	7	1613	c.689A>G	c.(688-690)aAt>aGt	p.N230S	FAM208A_ENST00000355628.5_Missense_Mutation_p.N626S|FAM208A_ENST00000493960.2_Missense_Mutation_p.N626S	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	626										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAGTTTTCTATTTTCTTCAAA	0.299000													9	25					0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145540687	145540687	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:145540687C>G	ENST00000332324.4	-	15	1519	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q	DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	416					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCACTGACCTCGTGGAAGAAG	0.647000													19	37					0	0	1	0	0
PSMD11	5717	broad.mit.edu	37	17	30807212	30807212	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:30807212C>T	ENST00000261712.3	+	12	1386	c.1123C>T	c.(1123-1125)Cat>Tat	p.H375Y	PSMD11_ENST00000457654.2_Missense_Mutation_p.H375Y	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	375	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CAAGAAATTTCATGGTAAGTA	0.408000													46	81					0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101460767	101460767	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:101460767G>A	ENST00000370489.4	+	11	1551	c.1373G>A	c.(1372-1374)aGa>aAa	p.R458K		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	458						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CTAACTCAGAGATTCAAGAAT	0.443000													86	168					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021654	51021654	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:51021654G>A	ENST00000599957.1	-	3	1513	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.T439M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	439	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGCTGAGTTCGTCACCATGCA	0.706000													29	48					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48622525	48622525	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:48622525G>C	ENST00000328333.8	-	32	4026	c.3919C>G	c.(3919-3921)Cca>Gca	p.P1307A	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1307A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1307	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGCTGCCTGGACGCCCATCT	0.682000													16	41					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95392461	95392461	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:95392461G>C	ENST00000336148.5	-	12	2283	c.2159C>G	c.(2158-2160)tCa>tGa	p.S720*		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ACCAGCTTTTGAACTTAACAA	0.368000								Direct reversal of damage;Homologous recombination					11	24					0	0	1	0	0
DUSP28	285193	broad.mit.edu	37	2	241500413	241500413	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:241500413G>C	ENST00000405954.1	+	1	695	c.312G>C	c.(310-312)aaG>aaC	p.K104N	ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_5'UTR|DUSP28_ENST00000343217.2_Missense_Mutation_p.K104N|ANKMY1_ENST00000403283.1_5'UTR			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	104	Tyrosine-protein phosphatase.						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		TCTACTGCAAGAACGGCCGCA	0.741000													4	12					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26558051	26558051	+	Silent	SNP	G	G	T	rs149629039	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:26558051G>T	ENST00000376261.3	+	9	1427	c.924G>T	c.(922-924)ggG>ggT	p.G308G	GAD2_ENST00000259271.3_Silent_p.G308G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	308					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTTCCAGAGGGAAAATGATTC	0.403000													17	42					9.16793e-09	9.45443e-09	1	1	0
SIK3	23387	broad.mit.edu	37	11	116741051	116741051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:116741051G>A	ENST00000375300.1	-	14	1809	c.1804C>T	c.(1804-1806)Cag>Tag	p.Q602*	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Nonsense_Mutation_p.Q544*|SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q443*|SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q554*|SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q496*			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	544	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CATTACCTCTGCACAGCTTCC	0.592000											OREG0003489	type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	27					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24930608	24930608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24930608G>T	ENST00000405141.1	+	14	2980	c.2269G>T	c.(2269-2271)Gag>Tag	p.E757*	NCOA1_ENST00000348332.3_Nonsense_Mutation_p.E757*|NCOA1_ENST00000395856.3_Nonsense_Mutation_p.E757*|NCOA1_ENST00000538539.1_Nonsense_Mutation_p.E757*|NCOA1_ENST00000406961.1_Nonsense_Mutation_p.E757*|NCOA1_ENST00000288599.5_Nonsense_Mutation_p.E757*|NCOA1_ENST00000407230.1_Nonsense_Mutation_p.E606*			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	757									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATAAAGATGAGAAAGATTT	0.378000			T	PAX3	alveolar rhadomyosarcoma								12	25					6.42651e-13	6.74443e-13	1	1	0
RTFDC1	51507	broad.mit.edu	37	20	55088466	55088466	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:55088466G>A	ENST00000023939.4	+	6	680	c.573G>A	c.(571-573)ctG>ctA	p.L191L	RTFDC1_ENST00000395881.3_Silent_p.L191L|GCNT7_ENST00000243913.4_Intron|RTFDC1_ENST00000357348.5_Silent_p.L221L	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2			replication termination factor 2 domain containing 1																		AGAGAAGGCTGAGAGCGAAGC	0.562000													3	14					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47379927	47379927	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:47379927C>T	ENST00000285039.7	-	31	4412	c.4113G>A	c.(4111-4113)gaG>gaA	p.E1371E	MYO5B_ENST00000324581.6_Silent_p.E486E	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1371					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTTTGTCCATCTCCTCCTTCA	0.617000													21	51					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639338	6639338	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:6639338C>T	ENST00000333172.6	+	6	2413	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.I486I	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	740					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCCTCTCCATCAGTGCCTTTG	0.547000													18	52					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27746258	27746258	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:27746258G>C	ENST00000264717.2	+	19	1893	c.1830G>C	c.(1828-1830)caG>caC	p.Q610H	GCKR_ENST00000424318.2_Missense_Mutation_p.Q420H	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	610					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GGCCAGGTCAGAAGCGCACTG	0.612000													13	54					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639332	6639332	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:6639332C>T	ENST00000333172.6	+	6	2407	c.2214C>T	c.(2212-2214)ctC>ctT	p.L738L	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.L484L	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	738					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ATGGCCTCCTCTCCATCAGTG	0.542000													18	48					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562346	136562346	+	Silent	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:136562346G>T	ENST00000264162.2	-	10	4465	c.4455C>A	c.(4453-4455)atC>atA	p.I1485I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1485	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTGGGGCTGGATGCTGGCGG	0.562000													18	41					4.96729e-08	5.10479e-08	1	1	0
KCNS1	3787	broad.mit.edu	37	20	43723922	43723922	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:43723922G>A	ENST00000306117.1	-	5	1566	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	KCNS1_ENST00000537075.1_Silent_p.F390F	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	390						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CCACACCAGAGAACACTGACA	0.567000													14	40					0	0	1	0	0
PSMD6	9861	broad.mit.edu	37	3	64009039	64009039	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:64009039G>C	ENST00000492933.1	-	1	109	c.57C>G	c.(55-57)atC>atG	p.I19M	PSMD6_ENST00000394431.2_Intron|PSMD6_ENST00000295901.4_Missense_Mutation_p.I19M|PSMD6_ENST00000482510.1_Intron	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GCAGCTGCGCGATACGCAAGT	0.672000													12	17					0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122598123	122598123	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:122598123C>T	ENST00000261038.5	+	9	1733	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	445					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGTCTTGGTTCAACTGGTGCC	0.463000													103	189					0	0	1	0	0
HMGB1	3146	broad.mit.edu	37	13	31037474	31037474	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr13:31037474C>G	ENST00000405805.1	-	3	1106	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	HMGB1_ENST00000399494.1_Missense_Mutation_p.E56Q|HMGB1_ENST00000399489.1_Missense_Mutation_p.E56Q|HMGB1_ENST00000326004.4_Missense_Mutation_p.E56Q|HMGB1_ENST00000341423.5_Missense_Mutation_p.E56Q|HMGB1_ENST00000339872.4_Missense_Mutation_p.E56Q|HMGB1_ENST00000468384.1_5'UTR			P09429	HMGB1_HUMAN	high mobility group box 1	56					base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		TTTCCTTTCTCTTTAGCAGAC	0.333000													31	36					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152725	149152725	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:149152725T>G	ENST00000247930.4	-	2	712	c.389A>C	c.(388-390)cAc>cCc	p.H130P		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTCAGGGGAGTGAACGGGGGC	0.612000													98	192					0	0	1	0	0
SUPT7L	9913	broad.mit.edu	37	2	27884012	27884012	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:27884012C>T	ENST00000337768.5	-	3	827	c.258G>A	c.(256-258)caG>caA	p.Q86Q	SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000405491.1_Silent_p.Q84Q|SUPT7L_ENST00000464789.2_Silent_p.Q84Q|SUPT7L_ENST00000406540.1_Silent_p.Q84Q	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	86					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GCTGCTGATTCTGGGCCTGAG	0.517000													16	47					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64033997	64033997	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:64033997C>T	ENST00000540288.1	+	29	3490	c.3387C>T	c.(3385-3387)atC>atT	p.I1129I	PLCB3_ENST00000279230.6_Silent_p.I1129I|PLCB3_ENST00000325234.5_Silent_p.I1062I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1129					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTCGGCACATCACTGAGTCAG	0.632000													28	57					0	0	1	0	0
CCDC120	90060	broad.mit.edu	37	X	48925325	48925325	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:48925325G>C	ENST00000376396.3	+	10	1789	c.1570G>C	c.(1570-1572)Gaa>Caa	p.E524Q	CCDC120_ENST00000536628.2_Missense_Mutation_p.E512Q|CCDC120_ENST00000603986.1_Missense_Mutation_p.E559Q|CCDC120_ENST00000496529.2_Missense_Mutation_p.E524Q|CCDC120_ENST00000597275.1_Missense_Mutation_p.E524Q|CCDC120_ENST00000422185.2_Missense_Mutation_p.E524Q	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	524	Pro-rich.						protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AGAGGCTGCCGAAGGCCCTGA	0.657000													4	0					0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154245817	154245817	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:154245817G>A	ENST00000328703.7	+	2	272	c.59G>A	c.(58-60)aGa>aAa	p.R20K	HAX1_ENST00000483970.2_Missense_Mutation_p.R20K|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	20	Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCAGCCACAGAGATCCCTTT	0.493000									Kostmann syndrome				31	114					0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4830402	4830402	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:4830402C>T	ENST00000348624.4	+	16	2131	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	AP5Z1_ENST00000490487.1_Intron	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	679					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CTCTGCTATTCGAGGTCACCC	0.647000													8	11					0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86842058	86842058	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:86842058A>G	ENST00000359242.3	-	8	949	c.668T>C	c.(667-669)aTg>aCg	p.M223T	ODF2L_ENST00000370566.3_Missense_Mutation_p.M223T|ODF2L_ENST00000317336.7_Missense_Mutation_p.M223T|ODF2L_ENST00000394731.1_Missense_Mutation_p.M92T|ODF2L_ENST00000294678.2_Missense_Mutation_p.M223T|ODF2L_ENST00000370567.1_Missense_Mutation_p.M223T	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	223						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		ATTCTTATTCATTCTTGATTG	0.313000													11	25					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31895930	31895930	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:31895930C>T	ENST00000556679.1	+	2	300	c.245C>T	c.(244-246)gCg>gTg	p.A82V	C2_ENST00000299367.5_Missense_Mutation_p.A82V|CFB_ENST00000456570.1_Missense_Mutation_p.A82V|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Missense_Mutation_p.A82V|C2_ENST00000418949.2_Missense_Mutation_p.A82V|C2_ENST00000442278.2_Intron			P00751	CFAB_HUMAN	complement factor B	156	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTGTCTAAGGCGGTCTGCAAA	0.612000													3	13					0	0	1	0	0
MYL6	4637	broad.mit.edu	37	12	56552259	56552259	+	Missense_Mutation	SNP	G	G	A	rs78564374	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:56552259G>A	ENST00000536128.1	+	1	114	c.74G>A	c.(73-75)gGa>gAa	p.G25E	MYL6_ENST00000548580.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.G25E|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548293.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGGGGGCGAGGAGAAGGCAGG	0.642000													12	38					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169623541	169623541	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:169623541C>T	ENST00000366787.3	-	19	3052	c.2803G>A	c.(2803-2805)Gat>Aat	p.D935N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	935					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTGTCAAAATCATCTTTACAA	0.418000													28	54					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109051929	109051929	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:109051929C>G	ENST00000261483.4	+	3	1551	c.499C>G	c.(499-501)Caa>Gaa	p.Q167E		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	167					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGAACCCCTTCAAGTCTTTGT	0.378000													24	26					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2608705	2608705	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:2608705G>C	ENST00000261597.4	+	15	1746	c.1564G>C	c.(1564-1566)Gag>Cag	p.E522Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	522	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ATAGGAAGCAGAGGAAGAGGA	0.388000													24	40					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169390861	169390861	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:169390861C>G	ENST00000545005.1	-	4	1315	c.808G>C	c.(808-810)Gaa>Caa	p.E270Q	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.E270Q|CCDC181_ENST00000367806.3_Missense_Mutation_p.E270Q					coiled-coil domain containing 181																		GTAGAATCTTCTTTCTTGGTG	0.468000													50	170					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964104	94964104	+	Missense_Mutation	SNP	G	G	C	rs61757459	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:94964104G>C	ENST00000341228.2	-	3	1426	c.631C>G	c.(631-633)Cga>Gga	p.R211G	SERPINA12_ENST00000556881.1_Missense_Mutation_p.R211G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	211					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCCTTACCTCGAAAGAAAATA	0.408000													14	41					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34824635	34824635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:34824635C>T	ENST00000192788.5	+	11	1531	c.1360C>T	c.(1360-1362)Cag>Tag	p.Q454*	UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.Q454*	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	454			Q -> R (in dbSNP:rs11755393).							breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTGCCTTTCAGCCTCCAGC	0.502000													22	47					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79312402	79312402	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:79312402C>G	ENST00000305089.3	-	6	521	c.441G>C	c.(439-441)aaG>aaC	p.K147N		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	147	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CCTTCCATTTCTTGAATCCTA	0.403000													9	18					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183096408	183096408	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:183096408G>A	ENST00000258341.4	+	17	3249	c.2992G>A	c.(2992-2994)Gat>Aat	p.D998N	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	998	Laminin EGF-like 11.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGCAAAGATGATGGTCGCTG	0.433000													18	54					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28196616	28196616	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:28196616G>C	ENST00000305242.5	-	17	2678	c.2586C>G	c.(2584-2586)ctC>ctG	p.L862L	ARMC4_ENST00000537576.1_Silent_p.L554L|ARMC4_ENST00000545014.1_Silent_p.L387L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	862							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGCATGGACAGAGTGCCCATG	0.448000													21	37					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329142	51329142	+	Silent	SNP	G	G	A	rs137922291		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:51329142G>A	ENST00000326856.4	-	6	807	c.678C>T	c.(676-678)gaC>gaT	p.D226D	KLK15_ENST00000598239.1_Silent_p.D227D|KLK15_ENST00000596931.1_3'UTR|KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000416184.1_Silent_p.D142D	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	227	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CACAAGGGACGTCACCCCAGG	0.557000													16	28					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155167286	155167286	+	Missense_Mutation	SNP	G	G	A	rs150568337		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:155167286G>A	ENST00000368378.3	-	20	2487	c.2467C>T	c.(2467-2469)Cgg>Tgg	p.R823W	THBS3_ENST00000541990.1_Missense_Mutation_p.R352W|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R703W|THBS3_ENST00000541576.1_Missense_Mutation_p.R220W	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	823	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCAACCGCCCGGAAGGGTGTA	0.612000													5	207					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	883181	883181	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:883181C>G	ENST00000457378.2	+	7	981	c.745C>G	c.(745-747)Cag>Gag	p.Q249E	SUN1_ENST00000405266.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000403868.1_Missense_Mutation_p.Q228E|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000456758.2_Intron|SUN1_ENST00000452783.2_Intron	NM_001171945.1	NP_001165416.1	O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTTAAAACTCAGAAAAAGGT	0.438000													58	108					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231473425	231473425	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:231473425C>G	ENST00000366645.1	-	1	173	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	EXOC8_ENST00000360394.2_Missense_Mutation_p.E23Q|SPRTN_ENST00000391858.4_5'UTR			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	23					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGCCGCGCCTCAAAACCCCCT	0.667000													35	109					0	0	1	0	0
NPEPL1	79716	broad.mit.edu	37	20	57268967	57268967	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:57268967C>G	ENST00000356091.6	+	2	613	c.325C>G	c.(325-327)Cgc>Ggc	p.R109G	NPEPL1_ENST00000525817.1_Missense_Mutation_p.R61G|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.R81G	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	109					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CGGAGCGCATCGCTGCATTGT	0.701000													8	17					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82626198	82626198	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:82626198C>T	ENST00000220669.5	-	6	453	c.435G>A	c.(433-435)ttG>ttA	p.L145L	ZFAND1_ENST00000519523.1_Silent_p.L145L|ZFAND1_ENST00000523096.1_Silent_p.L145L|ZFAND1_ENST00000517588.1_Silent_p.L38L|ZFAND1_ENST00000521895.1_Silent_p.L38L|ZFAND1_ENST00000522520.1_Silent_p.L38L|ZFAND1_ENST00000521287.1_Silent_p.L38L	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	145							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TTAATTTCATCAATGCAACCT	0.358000													19	27					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23397792	23397792	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:23397792G>T	ENST00000324366.8	-	2	366	c.143C>A	c.(142-144)cCg>cAg	p.P48Q	PRMT5_ENST00000216350.8_Missense_Mutation_p.P31Q|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000397441.2_Missense_Mutation_p.P31Q|PRMT5_ENST00000538452.1_Intron|PRMT5_ENST00000397440.4_Missense_Mutation_p.P31Q|PRMT5_ENST00000553897.1_Missense_Mutation_p.P48Q	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	48					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.P48L(1)|p.P31L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CTTGAAACGCGGATGGAAGAC	0.537000													25	78					3.01185e-09	3.11679e-09	1	1	0
SMCR8	140775	broad.mit.edu	37	17	18221435	18221435	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:18221435C>A	ENST00000406438.3	+	1	2812	c.2332C>A	c.(2332-2334)Cag>Aag	p.Q778K		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	778										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TATGGATTTTCAGAAGTGGAA	0.527000													47	92					1.38658e-30	1.49208e-30	1	1	0
CDH11	1009	broad.mit.edu	37	16	65032529	65032529	+	Silent	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:65032529A>G	ENST00000394156.3	-	4	912	c.459T>C	c.(457-459)aaT>aaC	p.N153N	CDH11_ENST00000566827.1_Silent_p.N27N|CDH11_ENST00000268603.4_Silent_p.N153N			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	153	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GAGGGTTGTCATTAATGTCCT	0.582000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			29	55					0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55649415	55649415	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:55649415C>T	ENST00000588981.1	-	10	619	c.415G>A	c.(415-417)Gag>Aag	p.E139K	TNNT1_ENST00000356783.5_Missense_Mutation_p.E128K|TNNT1_ENST00000585321.2_Missense_Mutation_p.E69K|TNNT1_ENST00000587758.1_Missense_Mutation_p.E128K|TNNT1_ENST00000587465.2_Missense_Mutation_p.E69K|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000536926.1_Missense_Mutation_p.E128K|TNNT1_ENST00000588426.1_Missense_Mutation_p.E36K|TNNT1_ENST00000291901.8_Missense_Mutation_p.E139K	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	139					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TTCTTGGCCTCTTCCTCTTCC	0.567000													43	79					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103357737	103357737	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:103357737G>A	ENST00000520539.1	-	8	1379	c.773C>T	c.(772-774)tCt>tTt	p.S258F	UBR5_ENST00000220959.4_Missense_Mutation_p.S258F|UBR5_ENST00000521922.1_Missense_Mutation_p.S258F	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	258				S -> Y (in Ref. 2; AAF88143).	cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGGGTGGGCAGAATGAATGTC	0.413000													17	31					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74616411	74616411	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:74616411G>A	ENST00000253159.8	+	12	2162	c.1964G>A	c.(1963-1965)aGa>aAa	p.R655K	ZNF236_ENST00000320610.9_Missense_Mutation_p.R657K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	655					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAAGCAGATAGACCATACAAG	0.348000													19	22					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39828707	39828707	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:39828707G>A	ENST00000538976.1	+	3	354	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000405961.3_Missense_Mutation_p.E58K|DAAM2_ENST00000398904.2_Missense_Mutation_p.E58K|DAAM2_ENST00000274867.4_Missense_Mutation_p.E58K	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	58	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTTGCAGGATGAATTGGATCT	0.448000													9	15					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183368537	183368537	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:183368537C>T	ENST00000454652.2	+	4	779	c.393C>T	c.(391-393)atC>atT	p.I131I	KLHL24_ENST00000242810.6_Silent_p.I131I|KLHL24_ENST00000476808.1_Silent_p.I131I	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24		BTB.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGGTGAAGATCACTACAGAGA	0.408000													6	137					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74616410	74616410	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:74616410A>G	ENST00000253159.8	+	12	2161	c.1963A>G	c.(1963-1965)Aga>Gga	p.R655G	ZNF236_ENST00000320610.9_Missense_Mutation_p.R657G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	655					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGAAGCAGATAGACCATACAA	0.348000													18	23					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100896129	100896129	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:100896129C>G	ENST00000369208.3	-	8	1526		c.e8-1		SIM1_ENST00000262901.4_Splice_Site			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTCCGCCACCCTGAGGAGAGC	0.637000													4	25					0	0	1	0	0
APOC1	341	broad.mit.edu	37	19	45418151	45418151	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:45418151G>A	ENST00000588750.1	+	3	328	c.3G>A	c.(1-3)atG>atA	p.M1I	APOC1_ENST00000586638.1_Start_Codon_SNP_p.M1I|APOC1_ENST00000252491.4_Start_Codon_SNP_p.M1I|APOC1_ENST00000592885.1_Start_Codon_SNP_p.M1I|APOC1_ENST00000588802.1_Start_Codon_SNP_p.M1I|APOC1_ENST00000589781.1_Start_Codon_SNP_p.M1I			P02654	APOC1_HUMAN	apolipoprotein C-I	1					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GCCTCGCCATGAGGCTCTTCC	0.607000													10	29					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11168977	11168977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:11168977C>T	ENST00000358026.2	+	32	4851	c.4567C>T	c.(4567-4569)Cga>Tga	p.R1523*	SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.R1491*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R1460*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R1491*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R1460*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R1461*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R1458*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R1461*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R1457*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1491	Bromo.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R1491*(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCCCTCGCGAAAGGAGCT	0.637000			"""F, N, Mis"""		NSCLC								13	28					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835134	61835134	+	Silent	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:61835134T>A	ENST00000280772.2	-	37	5696	c.5505A>T	c.(5503-5505)gcA>gcT	p.A1835A	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)		Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTCTTTAATGCTGGTTCTG	0.413000													53	150					0	0	1	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591564	56591564	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:56591564C>G	ENST00000338222.5	+	1	1539	c.1258C>G	c.(1258-1260)Cct>Gct	p.P420A		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	420						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TACTGCAAATCCTCAGCTGCA	0.542000													12	5					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185130013	185130013	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:185130013C>G	ENST00000367500.4	+	2	205	c.40C>G	c.(40-42)Cag>Gag	p.Q14E	SWT1_ENST00000367501.3_Missense_Mutation_p.Q14E	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	14										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAGACATCTCAGAGGAAAGA	0.323000													15	51					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7984221	7984221	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:7984221G>A	ENST00000319144.4	-	4	768	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	170	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TTGGGGTTGCGATGCCTCCGC	0.652000										Multiple Myeloma(8;0.094)			59	95					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45372078	45372078	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:45372078T>G	ENST00000402690.2	-	9	1485	c.1091A>C	c.(1090-1092)cAg>cCg	p.Q364P	SMAD2_ENST00000262160.6_Missense_Mutation_p.Q364P|SMAD2_ENST00000586040.1_Missense_Mutation_p.Q334P|SMAD2_ENST00000356825.4_Missense_Mutation_p.Q334P|SMAD2_ENST00000591214.1_Missense_Mutation_p.Q334P	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	364	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GCCATATCTCTGATTACAATT	0.418000													42	52					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64141357	64141357	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:64141357C>G	ENST00000409558.4	-	17	2411	c.2257G>C	c.(2257-2259)Gtt>Ctt	p.V753L	VPS54_ENST00000354504.3_Missense_Mutation_p.V612L|VPS54_ENST00000272322.4_Missense_Mutation_p.V765L	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TCAGTAGTAACAGATGGGATG	0.348000													31	48					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223116319	223116319	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:223116319C>T	ENST00000284476.6	+	2	318	c.154C>T	c.(154-156)Cca>Tca	p.P52S	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.P52S	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	52					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAAAGTGAGTCCAAATGGATG	0.512000													22	78					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123176495	123176495	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:123176495G>A	ENST00000371160.1	+	7	752	c.462G>A	c.(460-462)gaG>gaA	p.E154E	STAG2_ENST00000371145.3_Splice_Site_p.E154E|STAG2_ENST00000218089.9_Splice_Site_p.E154E|STAG2_ENST00000371144.3_Splice_Site_p.E154E|STAG2_ENST00000371157.3_Splice_Site_p.E154E|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Splice_Site_p.E85E	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	154					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATTCGATGAGGTAACTTACT	0.333000													15	5					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37056007	37056007	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:37056007G>C	ENST00000231790.2	+	9	978	c.762G>C	c.(760-762)aaG>aaC	p.K254N	MLH1_ENST00000536378.1_Missense_Mutation_p.K13N|MLH1_ENST00000539477.1_Missense_Mutation_p.K13N|MLH1_ENST00000435176.1_Missense_Mutation_p.K156N|MLH1_ENST00000455445.2_Missense_Mutation_p.K13N|MLH1_ENST00000458205.2_Missense_Mutation_p.K13N	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	254			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ACTCAGTGAAGAAGTGCATCT	0.383000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				17	21					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6592276	6592276	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:6592276G>A	ENST00000254579.6	+	42	14098	c.13534G>A	c.(13534-13536)Ggc>Agc	p.G4512S	DNHD1_ENST00000527990.2_Missense_Mutation_p.G4512S	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4512					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAGCTGAAGGGCGCACCCCC	0.682000													14	33					0	0	1	0	0
TMEM55B	90809	broad.mit.edu	37	14	20929450	20929450	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:20929450G>A	ENST00000250489.4	-	1	321	c.35C>T	c.(34-36)tCt>tTt	p.S12F	TMEM55B_ENST00000398020.4_Missense_Mutation_p.S12F			Q86T03	TM55B_HUMAN	transmembrane protein 55B	12						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GATGGGCTCAGACAGCAGCGG	0.751000													3	4					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24543758	24543758	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:24543758G>C	ENST00000397016.2	+	7	828	c.517G>C	c.(517-519)Gac>Cac	p.D173H	CPNE6_ENST00000537691.1_Missense_Mutation_p.D228H|CPNE6_ENST00000216775.2_Missense_Mutation_p.D173H	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	173	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CAGCAAGTCTGACCCTTTCAT	0.547000													23	64					0	0	1	0	0
RPUSD2	27079	broad.mit.edu	37	15	40864067	40864067	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:40864067G>A	ENST00000315616.7	+	2	909	c.871G>A	c.(871-873)Gag>Aag	p.E291K	RPUSD2_ENST00000559271.1_Missense_Mutation_p.E230K	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	291					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TGCAGTCTCTGAGAGAATTCA	0.552000													31	81					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95766234	95766234	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:95766234T>A	ENST00000272418.2	-	10	1124	c.916A>T	c.(916-918)Aag>Tag	p.K306*		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	306					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGTTGTTTCTTCATCTTGATA	0.323000													17	39					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24522785	24522785	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24522785C>G	ENST00000355123.4	-	12	1780	c.1337G>C	c.(1336-1338)aGa>aCa	p.R446T	ITSN2_ENST00000361999.3_Missense_Mutation_p.R446T|ITSN2_ENST00000406921.3_Missense_Mutation_p.R446T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	446					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCTCTCGTCTTTCTATGTC	0.289000													14	60					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886665	123886665	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:123886665G>A	ENST00000320891.4	+	1	384	c.384G>A	c.(382-384)ccG>ccA	p.P128P		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCAGTTACCCGCTCAGGTACA	0.557000													50	125					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33096819	33096819	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:33096819C>G	ENST00000306065.4	-	24	2573	c.2415G>C	c.(2413-2415)aaG>aaC	p.K805N		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	805					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGAGGTCCTTCTTATTGGGTT	0.512000													41	40					0	0	1	0	0
RDH10	157506	broad.mit.edu	37	8	74235043	74235043	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:74235043G>C	ENST00000240285.5	+	5	1578	c.900G>C	c.(898-900)aaG>aaC	p.K300N	RDH10_ENST00000519380.1_Missense_Mutation_p.K135N|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	300					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CCTTCATGAAGAGGTAACTGG	0.512000													31	51					0	0	1	0	0
GSTP1	2950	broad.mit.edu	37	11	67353985	67353985	+	Silent	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:67353985C>G	ENST00000398606.3	+	7	819	c.570C>G	c.(568-570)ctC>ctG	p.L190L	GSTP1_ENST00000398603.1_Silent_p.L154L|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	190	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	p.L190L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	GGCCCAAGCTCAAGGCCTTCC	0.627000													17	28					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34868692	34868692	+	Missense_Mutation	SNP	G	G	A	rs148548669		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:34868692G>A	ENST00000415930.3	+	6	742	c.572G>A	c.(571-573)cGc>cAc	p.R191H	GPI_ENST00000586425.1_Missense_Mutation_p.R180H|GPI_ENST00000356487.5_Missense_Mutation_p.R180H	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	180					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGAGGTCCCCGCGTCTGGTAT	0.532000													34	53					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142584	5142584	+	RNA	SNP	A	A	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:5142584A>T	ENST00000498233.1	-	0	814																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGCTAAGTGAAATGTCTGTGG	0.428000													18	53					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1712505	1712505	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:1712505C>G	ENST00000397412.3	+	12	2527	c.2428C>G	c.(2428-2430)Cca>Gca	p.P810A	CRAMP1L_ENST00000262317.4_Missense_Mutation_p.P188A|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P807A|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P810A			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	810						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GAGAAACCCTCCAAGACCCCT	0.547000													52	98					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70934909	70934909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:70934909C>A	ENST00000393567.2	-	53	9196	c.9046G>T	c.(9046-9048)Gag>Tag	p.E3016*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3016								p.E2967*(1)|p.E3015*(1)|p.E573*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCCTCACCTCCAACCGAATA	0.532000													24	181					1.414e-09	1.46839e-09	1	1	0
PARPBP	55010	broad.mit.edu	37	12	102576369	102576369	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:102576369A>T	ENST00000327680.2	+	10	1447	c.984A>T	c.(982-984)gaA>gaT	p.E328D	PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.E486D|PARPBP_ENST00000358383.5_Missense_Mutation_p.E409D|PARPBP_ENST00000392911.2_Missense_Mutation_p.E328D	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	409					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						CCCTAAGAGAACGCATCTGTG	0.318000													12	16					0	0	1	0	0
EFNA5	1946	broad.mit.edu	37	5	106722987	106722987	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:106722987C>A	ENST00000333274.6	-	4	795	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Intron	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	172					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AAAACACGATCATGAACACCT	0.328000													8	7					0.00010058	0.000101953	1	1	0
TSC1	7248	broad.mit.edu	37	9	135781236	135781236	+	Nonsense_Mutation	SNP	C	C	A	rs118203570		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr9:135781236C>A	ENST00000298552.3	-	15	1950	c.1729G>T	c.(1729-1731)Gag>Tag	p.E577*	TSC1_ENST00000545250.1_Nonsense_Mutation_p.E526*|TSC1_ENST00000440111.2_Nonsense_Mutation_p.E577*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	577			E -> D.		activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATACTGGTCTCCAAAGAAGTC	0.547000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				22	21					4.26978e-12	4.44956e-12	1	1	0
NOS3	4846	broad.mit.edu	37	7	150699002	150699002	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:150699002G>C	ENST00000297494.3	+	13	1953	c.1596G>C	c.(1594-1596)caG>caC	p.Q532H	NOS3_ENST00000467517.1_Missense_Mutation_p.Q532H|NOS3_ENST00000484524.1_Missense_Mutation_p.Q532H|NOS3_ENST00000461406.1_Missense_Mutation_p.Q326H	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	532	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCCGGGCCCAGAGCTACGCAC	0.647000													19	39					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35614640	35614640	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:35614640C>T	ENST00000353139.5	-	14	2292	c.1811G>A	c.(1810-1812)aGa>aAa	p.R604K	ACACA_ENST00000360679.3_Missense_Mutation_p.R509K|ACACA_ENST00000335166.5_Missense_Mutation_p.R489K|ACACA_ENST00000394406.2_Missense_Mutation_p.R567K	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	567	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGCCTCTTCTCTGTTTTCTCC	0.378000													17	44					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35083368	35083368	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:35083368C>G	ENST00000290378.4	-	6	1592	c.937G>C	c.(937-939)Gat>Cat	p.D313H	ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	313					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGCATACGATCAGCAATACCA	0.443000													77	152					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079687	34079687	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:34079687C>T	ENST00000254466.6	-	1	210	c.183G>A	c.(181-183)acG>acA	p.T61T	GAS2L2_ENST00000587565.1_Silent_p.T61T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	61	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCACCAGGCCCGTTTCCAGCA	0.627000													25	51					0	0	1	0	0
ACTR3C	653857	broad.mit.edu	37	7	149983476	149983476	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:149983476C>G	ENST00000539352.1	-	5	702	c.451G>C	c.(451-453)Gaa>Caa	p.E151Q	ACTR3C_ENST00000252071.4_Missense_Mutation_p.E151Q	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	151					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding										AAGAATATTTCAGGTCCCAGG	0.458000													4	197					0	0	1	0	0
GSR	2936	broad.mit.edu	37	8	30557646	30557646	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:30557646C>T	ENST00000221130.5	-	6	737	c.647G>A	c.(646-648)aGc>aAc	p.S216N	GSR_ENST00000546342.1_Missense_Mutation_p.S216N|GSR_ENST00000541648.1_Missense_Mutation_p.S216N|GSR_ENST00000537535.1_Missense_Mutation_p.S216N|GSR_ENST00000414019.1_Missense_Mutation_p.S173N	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	216					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TATTCCTAAGCTGGCACCTAT	0.428000													24	25					0	0	1	0	0
C1orf35	79169	broad.mit.edu	37	1	228288840	228288840	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:228288840C>T	ENST00000272139.4	-	8	1018	c.784G>A	c.(784-786)Gag>Aag	p.E262K	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	262				E -> K (in Ref. 1; AAN15215).						large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CATCAGGCCTCAGAGCCTCTG	0.627000													44	108					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27746223	27746223	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:27746223G>C	ENST00000264717.2	+	19	1858	c.1795G>C	c.(1795-1797)Gag>Cag	p.E599Q	GCKR_ENST00000424318.2_Missense_Mutation_p.E409Q	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	599					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTCTGTCTGTGAGGCTGTCAG	0.597000													10	37					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10689595	10689595	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:10689595G>C	ENST00000590923.1	-	8	950	c.867C>G	c.(865-867)tcC>tcG	p.S289S	AP1M2_ENST00000250244.6_Silent_p.S287S			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	287	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CGCGGCTGTGGGAGAACTTCT	0.512000													3	18					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24522905	24522905	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24522905C>T	ENST00000355123.4	-	12	1660	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.R406Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.R406Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	406					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCTGTTTTCGTTCCCACTC	0.453000													30	114					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	46					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173930937	173930937	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:173930937C>G	ENST00000367696.2	-	12	2479	c.2128G>C	c.(2128-2130)Gaa>Caa	p.E710Q	RC3H1_ENST00000258349.4_Missense_Mutation_p.E710Q|RC3H1_ENST00000367694.2_Missense_Mutation_p.E710Q			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	710	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TGGTATCTTTCTCTGGATTCT	0.438000													59	196					0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6979314	6979314	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:6979314G>A	ENST00000576617.1	-	6	698	c.429C>T	c.(427-429)ctC>ctT	p.L143L	CLEC10A_ENST00000571664.1_Silent_p.L143L|CLEC10A_ENST00000416562.2_Silent_p.L143L|CLEC10A_ENST00000254868.4_Silent_p.L170L			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	170					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CATTGTTGTTGAGAGTAGCCA	0.547000													27	51					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116741052	116741052	+	Silent	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:116741052C>A	ENST00000375300.1	-	14	1808	c.1803G>T	c.(1801-1803)gtG>gtT	p.V601V	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Silent_p.V543V|SIK3_ENST00000434315.2_Silent_p.V442V|SIK3_ENST00000446921.2_Silent_p.V553V|SIK3_ENST00000542607.1_Silent_p.V495V			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	543	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATTACCTCTGCACAGCTTCCT	0.597000											OREG0003489	type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	27					4.14922e-12	4.33915e-12	1	1	0
SF3B2	10992	broad.mit.edu	37	11	65831159	65831159	+	Silent	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:65831159C>G	ENST00000528302.1	+	18	2292	c.2238C>G	c.(2236-2238)ctC>ctG	p.L746L	SF3B2_ENST00000322535.6_Silent_p.L763L			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	763					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCCTGAACTCATTGAGCTGA	0.537000													13	27					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	16					0.004672	0.00470367	1	1	0
EVC	2121	broad.mit.edu	37	4	5754566	5754566	+	Missense_Mutation	SNP	G	G	A	rs145645536		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:5754566G>A	ENST00000382674.2	+	9	1286	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	EVC_ENST00000264956.6_Missense_Mutation_p.A368T|EVC_ENST00000509451.1_Missense_Mutation_p.A368T			P57679	EVC_HUMAN	Ellis van Creveld syndrome	368					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TTTGCAGGACGCCCTGGAGAG	0.557000													39	64					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													6	17					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625251	154625251	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:154625251C>G	ENST00000260010.6	+	1	2600	c.1192C>G	c.(1192-1194)Cat>Gat	p.H398D		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	398					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AAGGCAAAATCATTTGGCATC	0.363000													19	47					0	0	1	0	0
GSTP1	2950	broad.mit.edu	37	11	67353995	67353995	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:67353995C>T	ENST00000398606.3	+	7	829	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	GSTP1_ENST00000398603.1_Silent_p.L158L|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	194	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	CAAGGCCTTCCTGGCCTCCCC	0.622000													16	23					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639125	6639125	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:6639125C>G	ENST00000333172.6	+	6	2200	c.2007C>G	c.(2005-2007)ttC>ttG	p.F669L	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.F415L	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	669					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TACCTACATTCTACCACGCCT	0.522000													37	83					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5040888	5040888	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:5040888G>A	ENST00000251170.7	+	5	646	c.466G>A	c.(466-468)Gtc>Atc	p.V156I		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	156	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CACCGCCAACGTCAAGAGGGT	0.537000													4	7					0	0	1	0	0
DENND6A	201627	broad.mit.edu	37	3	57619051	57619051	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:57619051G>C	ENST00000311128.5	-	15	1364	c.1294C>G	c.(1294-1296)Caa>Gaa	p.Q432E	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		ATAACACTTTGAGCCTCAGAA	0.303000													14	33					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529420	113529420	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:113529420G>A	ENST00000297405.5	-	28	4843	c.4599C>T	c.(4597-4599)gtC>gtT	p.V1533V	CSMD3_ENST00000455883.2_Silent_p.V1429V|CSMD3_ENST00000352409.3_Silent_p.V1533V|CSMD3_ENST00000343508.3_Silent_p.V1493V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1533	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTCATGGGGACCCCTGGGT	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	30					0	0	1	0	0
TMEM31	203562	broad.mit.edu	37	X	102968912	102968912	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:102968912C>G	ENST00000319560.6	+	3	684	c.493C>G	c.(493-495)Ctg>Gtg	p.L165V	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	165						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						tgtcttcattctgatcttctt	0.378000													7	2					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39044508	39044508	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:39044508C>T	ENST00000379907.4	+	11	1123	c.996C>T	c.(994-996)gaC>gaT	p.D332D	ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	332	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D331D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TATCATATGACGACCCAAAGA	0.348000													103	32					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142144273	142144273	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:142144273C>T	ENST00000264951.4	-	4	631	c.514G>A	c.(514-516)Gag>Aag	p.E172K	XRN1_ENST00000544157.1_Intron|XRN1_ENST00000463916.1_Missense_Mutation_p.E172K|XRN1_ENST00000392981.2_Missense_Mutation_p.E172K	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	172					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATAATAACCTCATGGCCTGAG	0.279000													17	6					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376347	376347	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:376347G>A	ENST00000329962.6	+	13	1293	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	431						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCTCAACCCGGACGGTGAGT	0.617000													12	46					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24522915	24522915	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24522915C>T	ENST00000355123.4	-	12	1650	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	ITSN2_ENST00000361999.3_Missense_Mutation_p.E403K|ITSN2_ENST00000406921.3_Missense_Mutation_p.E403K	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	403					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTCCCACTCTTCCTTTTCT	0.453000													32	118					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44680638	44680638	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:44680638C>G	ENST00000590089.1	+	7	1590	c.1223C>G	c.(1222-1224)tCc>tGc	p.S408C	ZNF226_ENST00000454662.2_Missense_Mutation_p.S408C|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S408C			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CATCTTCAATCCCATCAAAGA	0.443000													24	33					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072260	134072260	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:134072260C>G	ENST00000264360.5	+	1	1791	c.965C>G	c.(964-966)cCa>cGa	p.P322R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAAGAGAGCCCAGTGTACCAA	0.612000													41	78					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36121033	36121033	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:36121033G>A	ENST00000258840.6	-	31	4667	c.4277C>T	c.(4276-4278)tCa>tTa	p.S1426L	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1392L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1379L|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S1379L	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1379	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCATAAGATGAAGCCTCTGT	0.274000													25	64					0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110435362	110435362	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr13:110435362C>T	ENST00000375856.3	-	1	3553	c.3039G>A	c.(3037-3039)ccG>ccA	p.P1013P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1013					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			acggcggATACGGGGAGGAGG	0.766000													3	2					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145557190	145557190	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:145557190C>G	ENST00000394434.2	-	2	211	c.45G>C	c.(43-45)aaG>aaC	p.K15N	LARS_ENST00000510191.1_Intron|LARS_ENST00000545646.1_Missense_Mutation_p.K15N|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000274562.9_Missense_Mutation_p.K15N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	15					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.K15K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTTCTCAATCTTCTTCAAAA	0.363000													20	16					0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65548157	65548157	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:65548157G>C	ENST00000304874.9	+	6	544	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	ASL_ENST00000395332.3_Missense_Mutation_p.E148Q|ASL_ENST00000395331.3_Missense_Mutation_p.E148Q|ASL_ENST00000380839.4_Missense_Mutation_p.E148Q	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	148					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GGATCGGGCAGAGGCGTGAGT	0.637000													16	22					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204125342	204125342	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:204125342G>A	ENST00000367195.2	-	7	958	c.915C>T	c.(913-915)ctC>ctT	p.L305L	REN_ENST00000272190.8_Silent_p.L308L			P00797	RENI_HUMAN	renin	308					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGGCCTCCATGAGCTTCTCTA	0.562000													100	357					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15753407	15753407	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:15753407G>C	ENST00000381341.2	+	15	1405	c.1016G>C	c.(1015-1017)gGa>gCa	p.G339A	DDX1_ENST00000233084.3_Splice_Site_p.G339A			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	339	Helicase ATP-binding.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTGGAAAATGGAGTAAGTTGT	0.323000													8	28					0	0	1	0	0
PTGDR2	11251	broad.mit.edu	37	11	60620311	60620311	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:60620311G>A	ENST00000332539.4	-	2	996	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN	prostaglandin D2 receptor 2	295					immune response	integral to plasma membrane	N-formyl peptide receptor activity										CCACGCTGTTGAAGAAGGCCA	0.706000													3	7					0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262845	159262845	+	RNA	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:159262845G>A	ENST00000522287.1	-	0	498					NR_028496.1																						ATGAATAGAAGAAGAAATCTA	0.408000													35	89					0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140336533	140336533	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:140336533C>T	ENST00000358993.2	-	1	96	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	20						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TCATTCACCTCGTTGGATTCA	0.493000													52	30					0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18650529	18650529	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:18650529C>T	ENST00000608443.1	-	3	493	c.294G>A	c.(292-294)ggG>ggA	p.G98G	FKBP8_ENST00000597960.3_Splice_Site_p.G98G|FKBP8_ENST00000222308.4_Splice_Site_p.G98G|FKBP8_ENST00000596558.2_Splice_Site_p.G98G|FKBP8_ENST00000453489.2_Splice_Site_p.G127G|FKBP8_ENST00000610101.1_Intron			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa						apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						ACAGCCCGTTCCCTGCCAGGG	0.662000													66	84					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92471361	92471361	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:92471361G>C	ENST00000267622.4	-	11	3332	c.2959C>G	c.(2959-2961)Caa>Gaa	p.Q987E		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	987					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTATCTGTTTGAATGTCCTGT	0.333000			T	PDGFRB	AML								15	36					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73185578	73185578	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:73185578T>C	ENST00000286657.4	-	8	1241	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	402	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GACTTACACATGGCCCGTTTC	0.448000													18	26					0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171753057	171753057	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:171753057C>T	ENST00000361735.3	+	2	597	c.331C>T	c.(331-333)Cct>Tct	p.P111S	METTL13_ENST00000458517.1_Missense_Mutation_p.P110S|METTL13_ENST00000367737.5_Missense_Mutation_p.P111S|METTL13_ENST00000362019.3_Missense_Mutation_p.P25S	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	111							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GATGGAGTTTCCTGATGCCTC	0.527000													21	75					0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79797732	79797732	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:79797732G>C	ENST00000282226.4	+	2	302	c.147G>C	c.(145-147)ctG>ctC	p.L49L	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	49										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		ATGAGGCACTGAAAAGTAAGT	0.368000													39	33					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30802107	30802107	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:30802107G>A	ENST00000256079.4	-	20	2570	c.2232C>T	c.(2230-2232)gtC>gtT	p.V744V	IPO8_ENST00000544829.1_Silent_p.V539V	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	744					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGAATGATGACTTCCAGAA	0.428000													37	77					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50050233	50050233	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:50050233C>T	ENST00000335154.5	-	9	1072	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	FMNL3_ENST00000293590.5_Missense_Mutation_p.R280Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R280Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R229Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	280	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GTGACCTCCTCGCACCAAACA	0.512000													10	32					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46398102	46398102	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:46398102C>T	ENST00000454345.1	+	25	2879	c.2754C>T	c.(2752-2754)atC>atT	p.I918I	DGKZ_ENST00000343674.6_Silent_p.I746I|DGKZ_ENST00000395574.3_Silent_p.I696I|DGKZ_ENST00000456247.2_Silent_p.I729I|DGKZ_ENST00000527911.1_Silent_p.I730I|DGKZ_ENST00000528615.1_Silent_p.I508I|DGKZ_ENST00000543978.1_Silent_p.I82I|DGKZ_ENST00000318201.8_Silent_p.I707I|DGKZ_ENST00000532868.2_Silent_p.I734I|DGKZ_ENST00000421244.2_Silent_p.I730I	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	918					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	p.I746I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCTACAGGATCGACCGAGCCC	0.672000													42	89					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100751235	100751235	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:100751235G>C	ENST00000323346.5	+	1	379	c.66G>C	c.(64-66)aaG>aaC	p.K22N	SLC17A8_ENST00000392989.3_Missense_Mutation_p.K22N	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	22					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AAGGAGTGAAGAACGCCGTGG	0.413000													36	88					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31540716	31540716	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:31540716G>T	ENST00000389082.5	-	21	3910	c.3646C>A	c.(3646-3648)Cgc>Agc	p.R1216S	DENND5B_ENST00000536562.1_Missense_Mutation_p.R1251S|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1251S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1216	RUN 2.					integral to membrane		p.R1216C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGAGCAGGCGATCCCTACAG	0.527000													15	31					2.31682e-05	2.35649e-05	1	1	0
LHX8	431707	broad.mit.edu	37	1	75609605	75609605	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:75609605G>A	ENST00000294638.5	+	7	1350	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	LHX8_ENST00000356261.3_Missense_Mutation_p.R219Q	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	229						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AAAAGAGCTCGGACCAGCTTT	0.403000													14	37					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136463	19136463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:19136463G>A	ENST00000601879.1	-	3	991	c.694C>T	c.(694-696)Cag>Tag	p.Q232*	SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000600377.1_Nonsense_Mutation_p.Q246*|SUGP2_ENST00000337018.6_Nonsense_Mutation_p.Q232*|SUGP2_ENST00000452918.2_Nonsense_Mutation_p.Q232*|SUGP2_ENST00000456085.2_Intron			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	232					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AGCAGGCCCTGAGTCTCCCCC	0.522000													36	37					0	0	1	0	0
PPM1M	132160	broad.mit.edu	37	3	52282393	52282393	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:52282393C>G	ENST00000296487.4	+	6	759	c.355C>G	c.(355-357)Ctg>Gtg	p.L119V	PPM1M_ENST00000457351.2_Missense_Mutation_p.L280V|PPM1M_ENST00000409502.3_Missense_Mutation_p.L68V|PPM1M_ENST00000323588.4_Missense_Mutation_p.L119V			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	119	PP2C-like.				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GTTCACCCGACTGGAGTTCCC	0.592000													9	23					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392633	89392633	+	RNA	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:89392633T>A	ENST00000532352.1	+	0	528							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTAAGTGTAATATTGAAAATT	0.343000													7	5					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45478126	45478126	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:45478126C>G	ENST00000361462.2	+	6	3098	c.2915C>G	c.(2914-2916)tCt>tGt	p.S972C	FAM179B_ENST00000361577.3_Missense_Mutation_p.S972C|FAM179B_ENST00000382233.2_Intron|KLHL28_ENST00000553817.1_Intron			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	972	Ser-rich.						binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATGCATAGCTCTCTTAGGTCC	0.338000													21	47					0	0	1	0	0
BCL2L10	10017	broad.mit.edu	37	15	52402123	52402123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:52402123C>A	ENST00000561198.1	-	2	648	c.607G>T	c.(607-609)Gag>Tag	p.E203*	BCL2L10_ENST00000260442.3_Missense_Mutation_p.W179C			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	0					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		GCTGTTTTCTCCAAAAAGCCA	0.438000													65	110					1.63498e-16	1.73425e-16	1	1	0
BRD1	23774	broad.mit.edu	37	22	50216812	50216812	+	Translation_Start_Site	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:50216812C>T	ENST00000342989.5	-	0	41				BRD1_ENST00000542442.1_Missense_Mutation_p.C24Y|BRD1_ENST00000457780.2_Missense_Mutation_p.C385Y|BRD1_ENST00000216267.8_Missense_Mutation_p.C385Y|BRD1_ENST00000404760.1_Missense_Mutation_p.C385Y|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000404034.1_Missense_Mutation_p.C385Y			O95696	BRD1_HUMAN	bromodomain containing 1						histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGACATCACAGTAAGCGGT	0.542000													66	112					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29437531	29437531	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:29437531C>T	ENST00000283351.4	-	20	3495	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E1000K	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1054					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGACACTTTCATAGTAAAAC	0.348000													18	37					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561856	11561856	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:11561856G>A	ENST00000294484.6	+	2	945	c.807G>A	c.(805-807)acG>acA	p.T269T	PTCHD2_ENST00000389575.3_Silent_p.T269T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	269					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACACTCAGACGCACGCGCACT	0.677000													12	20					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11607583	11607583	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:11607583G>C	ENST00000262442.4	+	25	5283	c.5215G>C	c.(5215-5217)Gag>Cag	p.E1739Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1739Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCAGGCTGGAGGAAGGCTA	0.512000													39	86					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129771262	129771262	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:129771262C>A	ENST00000338144.3	-	12	1756	c.1339G>T	c.(1339-1341)Gac>Tac	p.D447Y	ENOX2_ENST00000394363.1_Missense_Mutation_p.D418Y|ENOX2_ENST00000370935.1_Missense_Mutation_p.D418Y|ENOX2_ENST00000370927.1_Missense_Mutation_p.D447Y	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	447					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTGTTAGGGTCATCTTCTCTG	0.473000													84	41					5.00475e-40	5.42486e-40	1	1	0
HRH3	11255	broad.mit.edu	37	20	60794805	60794805	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:60794805G>C	ENST00000340177.5	-	1	506	c.222C>G	c.(220-222)ctC>ctG	p.L74L	HRH3_ENST00000317393.6_Silent_p.L74L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	74					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	TGGCGAGGTTGAGCAGGAAGA	0.682000													18	46					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56492874	56492874	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:56492874C>T	ENST00000370754.5	-	32	4461	c.4462G>A	c.(4462-4464)Gaa>Aaa	p.E1488K	DST_ENST00000244364.6_Missense_Mutation_p.E984K|DST_ENST00000518935.1_Missense_Mutation_p.E984K|DST_ENST00000446842.2_Missense_Mutation_p.E984K|DST_ENST00000361203.3_Missense_Mutation_p.E1310K|DST_ENST00000421834.2_Missense_Mutation_p.E1310K|DST_ENST00000370769.4_Missense_Mutation_p.E1310K|DST_ENST00000312431.6_Missense_Mutation_p.E1310K|DST_ENST00000370765.6_Missense_Mutation_p.E984K|DST_ENST00000370788.2_Missense_Mutation_p.E1310K			Q03001	DYST_HUMAN	dystonin	1310					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAGTAGTTTCAACCTGCTGG	0.388000													21	48					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57545488	57545488	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:57545488G>C	ENST00000267811.5	+	15	1521	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T	TCF12_ENST00000343827.3_Missense_Mutation_p.R236T|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Missense_Mutation_p.R430T|TCF12_ENST00000452095.2_Missense_Mutation_p.R426T|TCF12_ENST00000557843.1_Missense_Mutation_p.R406T|TCF12_ENST00000543579.1_Missense_Mutation_p.R260T|TCF12_ENST00000537840.1_Missense_Mutation_p.R170T|TCF12_ENST00000438423.2_Missense_Mutation_p.R430T|TCF12_ENST00000559703.1_Missense_Mutation_p.R64T|TCF12_ENST00000559710.1_Missense_Mutation_p.R40T	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	406					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CGTTTAGACAGACTGGATGAT	0.443000			T	TEC	extraskeletal myxoid chondrosarcoma								23	66					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413526	105413526	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:105413526C>A	ENST00000333244.5	-	7	8381	c.8262G>T	c.(8260-8262)aaG>aaT	p.K2754N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2754						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTTGGGGCCCTTAACATCTA	0.612000													100	172					4.31119e-35	4.65608e-35	1	1	0
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			16	34					0	0	1	0	0
SMCO1	255798	broad.mit.edu	37	3	196236536	196236536	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:196236536C>G	ENST00000397537.2	-	2	211	c.55G>C	c.(55-57)Gac>Cac	p.D19H		NM_001077657.1	NP_001071125.1			single-pass membrane protein with coiled-coil domains 1																		AGTTTGTGGTCTACTCTGTAG	0.373000													46	86					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				11	19					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5222225	5222225	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:5222225G>A	ENST00000372412.4	-	19	3346	c.3113C>T	c.(3112-3114)cCc>cTc	p.P1038L	PTPRS_ENST00000357368.4_Missense_Mutation_p.P1037L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1033L|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1037L|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1015L|PTPRS_ENST00000592099.1_Missense_Mutation_p.P606L|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1015L|PTPRS_ENST00000353284.2_Missense_Mutation_p.P606L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1037	Fibronectin type-III 8.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GAAGTTCTTGGGCGAGACTGC	0.607000													3	39					0	0	1	0	0
TEKT4P2	100132288	broad.mit.edu	37	21	9907373	9907373	+	RNA	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr21:9907373C>G	ENST00000416067.1	-	0	1419					NR_037872.1|NR_038327.1																						TGTGGATGTCCTTGAGGTTGC	0.577000													4	42					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89858462	89858462	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:89858462C>T	ENST00000389301.3	-	13	1128	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	FANCA_ENST00000568369.1_Silent_p.L366L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	366					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCTCTGCACTCAGCATCACAA	0.527000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				21	73					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	883137	883137	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:883137C>G	ENST00000456758.2	+	8	812	c.812C>G	c.(811-813)tCt>tGt	p.S271C	SUN1_ENST00000405266.1_Missense_Mutation_p.S213C|SUN1_ENST00000457378.2_Missense_Mutation_p.S234C|SUN1_ENST00000425407.2_Missense_Mutation_p.S163C|SUN1_ENST00000401592.1_Missense_Mutation_p.S213C|SUN1_ENST00000403868.1_Missense_Mutation_p.S213C|SUN1_ENST00000389574.3_Missense_Mutation_p.S163C|SUN1_ENST00000452783.2_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	213	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAGTTTATTCTAGGGACAGG	0.502000													79	186					0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134059433	134059433	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:134059433G>A	ENST00000368625.4	-	2	413	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	STK32C_ENST00000368622.1_5'UTR			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	97	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCAATGGCCCGAAGGATCTGG	0.627000													22	58					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134181051	134181051	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:134181051C>G	ENST00000431683.2	+	13	1274	c.1274C>G	c.(1273-1275)tCc>tGc	p.S425C		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	425					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GACGCCCTATCCTACTTAAAT	0.582000													114	196					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73491426	73491426	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:73491426C>T	ENST00000314256.7	+	21	3184	c.2790C>T	c.(2788-2790)atC>atT	p.I930I	KIAA0195_ENST00000579208.1_Silent_p.I581I|KIAA0195_ENST00000375248.5_Silent_p.I940I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	930					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGACCTCATCAGCTTCCAGC	0.597000													16	53					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109732234	109732234	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:109732234C>T	ENST00000369939.3	+	11	1552	c.1369C>T	c.(1369-1371)Cac>Tac	p.H457Y	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.H370Y	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	457					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GGCTGGTGATCACATTTACAC	0.517000													15	21					0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44778881	44778881	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:44778881C>T	ENST00000260327.4	+	4	1021	c.458C>T	c.(457-459)tCa>tTa	p.S153L	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.S153L|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.S153L|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.S153L	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	153							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AACTTTTTTTCACCAGCAAAT	0.303000													22	80					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111214	81111214	+	Silent	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:81111214C>G	ENST00000228644.3	+	1	524	c.372C>G	c.(370-372)ctC>ctG	p.L124L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	124	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGGAGATCCTCAGGAATGCCA	0.597000													52	81					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13068356	13068356	+	Splice_Site	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:13068356A>G	ENST00000506447.1	+	24	4838		c.e24-1		CEP192_ENST00000430049.2_Splice_Site|CEP192_ENST00000325971.8_Splice_Site	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa											NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTAATTTTATAGGATCCAGAA	0.294000													18	27					0	0	1	0	0
CCZ1	51622	broad.mit.edu	37	7	5942310	5942310	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:5942310C>G	ENST00000325974.6	+	6	523	c.457C>G	c.(457-459)Ctg>Gtg	p.L153V	CCZ1_ENST00000537980.1_Missense_Mutation_p.L10V	NM_015622.5	NP_056437.4	P86790	CCZ1L_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	153						lysosomal membrane				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						TGGTACATTTCTGAAAGCCAT	0.323000													19	33					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24523032	24523032	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24523032C>G	ENST00000355123.4	-	12	1533	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.E364Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.E364Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	364					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTTGTCCTCAAAAGTAACT	0.448000													39	55					0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18070755	18070755	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:18070755G>A	ENST00000327451.6	+	9	1178	c.640G>A	c.(640-642)Gag>Aag	p.E214K	SLC25A18_ENST00000399813.1_Missense_Mutation_p.E214K|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18							integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GGGGTTCAACGAGCTCGCCGG	0.532000													42	69					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133073771	133073771	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:133073771G>T	ENST00000326499.6	-	4	779	c.655C>A	c.(655-657)Cct>Act	p.P219T	VNN2_ENST00000525270.1_Missense_Mutation_p.P166T|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	219	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTAACACCAGGATCATAGAAG	0.438000													45	109					9.84934e-19	1.04848e-18	1	1	0
ZC3H12B	340554	broad.mit.edu	37	X	64722819	64722819	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:64722819G>C	ENST00000338957.4	+	5	2308	c.2241G>C	c.(2239-2241)ttG>ttC	p.L747F	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L736F	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	736							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTATCCCTTGAGTAACAGCC	0.557000													16	11					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24800967	24800967	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:24800967C>T	ENST00000395799.3	+	6	1133	c.1004C>T	c.(1003-1005)tCt>tTt	p.S335F	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S335F	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	335	Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GAAAGCAAATCTGAAAGTAGC	0.438000													39	49					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88053553	88053553	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:88053553A>G	ENST00000307808.6	+	18	3703	c.3283A>G	c.(3283-3285)Att>Gtt	p.I1095V	AFF1_ENST00000395146.4_Missense_Mutation_p.I1102V|AFF1_ENST00000544085.1_Missense_Mutation_p.I733V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1095						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTCTCCATGCATTGCAAGGTA	0.343000													17	25					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228556048	228556048	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:228556048C>T	ENST00000570156.2	+	99	22643	c.22569C>T	c.(22567-22569)gtC>gtT	p.V7523V	OBSCN_ENST00000422127.1_Silent_p.V6566V|OBSCN_ENST00000366707.4_Silent_p.V4200V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6566	Ig-like 55.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGTCAAGGTCTACATCCAGC	0.622000													4	9					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203192777	203192777	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:203192777A>T	ENST00000367229.1	-	5	360	c.326T>A	c.(325-327)aTg>aAg	p.M109K	CHIT1_ENST00000255427.3_Missense_Mutation_p.M90K|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.M100K	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	109					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CGTGGCTACCATATCTGTGAA	0.542000													51	180					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3819201	3819201	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:3819201C>T	ENST00000262367.5	-	15	3843	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E974K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1012					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.E1012K(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCTTTGGATTCACCAGGATCG	0.592000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						36	57					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101349412	101349412	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:101349412C>G	ENST00000534062.1	-	1	1772	c.1714G>C	c.(1714-1716)Gat>Cat	p.D572H	MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	572										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GTCTCATCATCTGCTTCCTTC	0.572000													7	13					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112476059	112476059	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:112476059C>G	ENST00000230538.7	-	16	2447	c.2050G>C	c.(2050-2052)Gag>Cag	p.E684Q	RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.E677Q|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.E677Q|LAMA4_ENST00000424408.2_Missense_Mutation_p.E677Q|RP1-142L7.5_ENST00000588689.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	684	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.E677K(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTACTAGACTCTGCCTTTGCT	0.393000													25	58					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122626714	122626714	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:122626714C>G	ENST00000303924.4	-	4	1831	c.1294G>C	c.(1294-1296)Gtc>Ctc	p.V432L		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	432						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGACCATGACGATATTTCCT	0.428000													9	206					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55206428	55206428	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:55206428G>A	ENST00000201031.2	+	2	459	c.216G>A	c.(214-216)tcG>tcA	p.S72S	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	72	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ACTCCCAGTCGGCCGACCCCT	0.701000													15	34					0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74303737	74303737	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:74303737G>A	ENST00000263681.2	+	1	163	c.34G>A	c.(34-36)Gag>Aag	p.E12K	POLD3_ENST00000532784.1_3'UTR|POLD3_ENST00000532497.1_5'UTR|POLD3_ENST00000527458.1_5'UTR	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	12					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					AAATATAGACGAGTTCGTCAC	0.642000													15	18					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43298877	43298877	+	Missense_Mutation	SNP	G	G	A	rs75817094		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr21:43298877G>A	ENST00000269844.3	-	3	450	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000422911.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	114					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						GGCTGTACCCGAGGGCGGGGG	0.766000													12	6					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121491473	121491473	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:121491473C>G	ENST00000310864.6	-	14	1712	c.1498G>C	c.(1498-1500)Gaa>Caa	p.E500Q	IQCB1_ENST00000349820.6_Missense_Mutation_p.E367Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	500					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GCTCGCTCTTCTAGGGCCCTG	0.498000													41	84					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49427126	49427126	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:49427126G>A	ENST00000301067.7	-	39	11361	c.11362C>T	c.(11362-11364)Cag>Tag	p.Q3788*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GACAGCTGCTGGACCAGGAGG	0.667000													5	6					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312697	48312697	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:48312697A>G	ENST00000435803.1	+	17	3458	c.3434A>G	c.(3433-3435)cAc>cGc	p.H1145R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1145					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGTCCATTCACTGTACCGTT	0.353000													15	43					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129185821	129185821	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:129185821C>G	ENST00000296266.3	+	9	997	c.805C>G	c.(805-807)Ctg>Gtg	p.L269V	IFT122_ENST00000348417.2_Missense_Mutation_p.L218V|IFT122_ENST00000431818.2_Missense_Mutation_p.L68V|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000347300.2_Intron	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	218					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCCTTCCACTCTGAAGTCAGC	0.498000													33	64					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95392433	95392433	+	Silent	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:95392433G>T	ENST00000336148.5	-	12	2311	c.2187C>A	c.(2185-2187)ctC>ctA	p.L729L		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATCCTCCAATGAGGTTAAGTC	0.353000								Direct reversal of damage;Homologous recombination					14	19					1.49906e-05	1.52997e-05	1	1	0
VPS53	55275	broad.mit.edu	37	17	617947	617947	+	Translation_Start_Site	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:617947C>G	ENST00000437048.2	-	1	149	c.3G>C	c.(1-3)atG>atC	p.M1I	VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000401468.3_Start_Codon_SNP_p.M1I|VPS53_ENST00000574029.1_Start_Codon_SNP_p.M1I|VPS53_ENST00000571805.1_Start_Codon_SNP_p.M1I|VPS53_ENST00000291074.5_Start_Codon_SNP_p.M1I	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	1					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CCTCCTCCATCATTCCGCCAC	0.706000													35	79					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97626386	97626386	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:97626386G>A	ENST00000275053.4	-	18	2877	c.2612C>T	c.(2611-2613)tCa>tTa	p.S871L	MMS22L_ENST00000369251.2_Missense_Mutation_p.S831L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	871					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTGGGCCTTTGAGAAAATACT	0.299000													14	46					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20118011	20118011	+	Silent	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:20118011C>A	ENST00000397165.2	-	4	460	c.300G>T	c.(298-300)ctG>ctT	p.L100L	ZNF682_ENST00000358523.5_Silent_p.L68L|ZNF682_ENST00000397162.1_Silent_p.L68L|ZNF682_ENST00000597972.1_Silent_p.L106L|ZNF682_ENST00000593468.1_3'UTR|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Silent_p.L24L	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L100L(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						CATATCTTCTCAGTATCACTT	0.358000													9	5					7.48243e-07	7.66304e-07	1	1	0
UBN2	254048	broad.mit.edu	37	7	138968238	138968238	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:138968238C>G	ENST00000473989.3	+	15	2587	c.2587C>G	c.(2587-2589)Cag>Gag	p.Q863E	UBN2_ENST00000288561.8_Missense_Mutation_p.Q780E	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTCTTCCATTCAGAACCCTAA	0.463000													42	66					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609492	115609492	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:115609492G>A	ENST00000361384.2	-	2	2289	c.1372C>T	c.(1372-1374)Ctt>Ttt	p.L458F	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.L458F	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	458	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		ACTAACGGAAGAGAAACTTGA	0.343000								Other identified genes with known or suspected DNA repair function					19	38					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48622544	48622544	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:48622544G>A	ENST00000328333.8	-	32	4007	c.3900C>T	c.(3898-3900)ttC>ttT	p.F1300F	COL7A1_ENST00000454817.1_Silent_p.F1300F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1300	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGCTCCAGGGAAGCCCTGAG	0.667000													12	37					0	0	1	0	0
GPSM1	26086	broad.mit.edu	37	9	139250815	139250815	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr9:139250815C>T	ENST00000440944.1	+	13	1854	c.1634C>T	c.(1633-1635)tCg>tTg	p.S545L	GPSM1_ENST00000392944.1_Missense_Mutation_p.S36L|GPSM1_ENST00000429455.1_Missense_Mutation_p.S36L	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	545					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		ATGACGGCCTCGCCCCAGACC	0.721000													9	8					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90402857	90402857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:90402857G>A	ENST00000369393.3	-	63	10007	c.9892C>T	c.(9892-9894)Caa>Taa	p.Q3298*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q3298*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3298					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCATCCTTTGGCGAAGCAGC	0.473000													8	26					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098799	178098799	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:178098799T>A	ENST00000397062.3	-	2	800	c.246A>T	c.(244-246)gaA>gaT	p.E82D	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66D|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E82D(8)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTGGGAGAAATTCACCTGTCT	0.433000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			20	33					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39804928	39804928	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:39804928C>T	ENST00000248668.4	-	1	1048	c.1049G>A	c.(1048-1050)cGg>cAg	p.R350Q		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	350	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCCGTCCCCCCGGACCCGGGT	0.692000													7	16					0	0	1	0	0
KLHL41	10324	broad.mit.edu	37	2	170371102	170371102	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:170371102G>A	ENST00000284669.1	+	2	1206	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	BBS5_ENST00000554017.1_Missense_Mutation_p.E315K|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.E315K|KLHL41_ENST00000463400.1_3'UTR	NM_006063.2	NP_006054.2			kelch-like family member 41																		CATAGCATCTGAATGGGTTGG	0.398000													24	33					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48204667	48204667	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:48204667C>T	ENST00000396720.3	+	15	3872	c.3678C>T	c.(3676-3678)ccC>ccT	p.P1226P	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1226							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCACGGCCCCCTGTCGTCTT	0.692000													6	11					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24463780	24463780	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:24463780delC	ENST00000270800.1	-	3	234	c.196delG	c.(196-198)gtgfs	p.V66fs		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	66	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TTCTTTGCCACCCAGTCCCTC	0.587													22	75	---	---	---	---					
NGEF	25791	broad.mit.edu	37	2	233744322	233744324	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:233744322_233744324delCTC	ENST00000264051.3	-	15	2286_2288	c.2008_2010delGAG	c.(2008-2010)gagdel	p.E670del	NGEF_ENST00000539537.1_In_Frame_Del_p.E393del|NGEF_ENST00000373552.4_In_Frame_Del_p.E578del	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	670	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GATTCAAGATCTCCTCAGTCATG	0.581													44	106	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36652009	36652010	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:36652009_36652010insGG	ENST00000405375.1	+	2	366_367	c.131_132insGG	c.(130-135)gaggccfs	p.A45fs	CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.A45fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.A79fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.A45fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	45					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						TGCATCCAGGAGGCCCGTGAGC	0.658													17	39	---	---	---	---					
UNC5CL	222643	broad.mit.edu	37	6	40996310	40996316	+	Frame_Shift_Del	DEL	GGGGCTG	GGGGCTG	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:40996310_40996316delGGGGCTG	ENST00000244565.3	-	9	1441_1447	c.1353_1359delCAGCCCC	c.(1351-1359)cgcagccccfs	p.RSP451fs	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Frame_Shift_Del_p.RSP451fs	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	451	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCCGCTGCGGGGCTGCGCTGGCAGG	0.671													12	66	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151845284	151845288	+	Frame_Shift_Del	DEL	GAAGA	GAAGA	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:151845284_151845288delGAAGA	ENST00000355193.2	-	53	14113_14117	c.13895_13899delTCTTC	c.(13894-13899)ctcttcfs	p.LF4632fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.LF4575fs					lysine (K)-specific methyltransferase 2C																		AGCCCACAGGGAAGAGTGCTTTAGG	0.566													16	41	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151877140	151877140	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:151877140delC	ENST00000355193.2	-	37	7439	c.7221delG	c.(7219-7221)gggfs	p.G2407fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.G2407fs					lysine (K)-specific methyltransferase 2C																		AGTCCTGTGACCCCTTCTCCT	0.522													118	249	---	---	---	---					
LOC441666	441666	broad.mit.edu	37	10	42832502	42832503	+	RNA	INS	-	-	TATCA			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:42832502_42832503insTATCA	ENST00000609841.1	-	0	1400_1401					NR_024380.1																						CCCCTATCAATTATGTTTAGTA	0.366													3	4	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.660													3	5	---	---	---	---					
LEPREL2	10536	broad.mit.edu	37	12	6940594	6940594	+	RNA	DEL	C	C	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:6940594delC	ENST00000251761.8	+	0	1155				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						TGGACCCCCACCCCCCGCTGG	0.602													9	11	---	---	---	---					
CAB39L	81617	broad.mit.edu	37	13	49957036	49957037	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr13:49957036_49957037insT	ENST00000355854.4	-	2	507_508	c.10_11insA	c.(10-12)atgfs	p.M4fs	CAB39L_ENST00000476943.1_5'UTR|CAB39L_ENST00000347776.5_Frame_Shift_Ins_p.M4fs|CAB39L_ENST00000409308.1_Frame_Shift_Ins_p.M4fs|CAB39L_ENST00000410043.1_Frame_Shift_Ins_p.M4fs	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	4					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AAACAAAGGCATTTTTTTCATG	0.287													16	63	---	---	---	---					
FOXA1	3169	broad.mit.edu	37	14	38061263	38061263	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:38061263delG	ENST00000250448.2	-	2	787	c.726delC	c.(724-726)tccfs	p.S242fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.S209fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	242					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GCGTCCAGTAGGAGCCCTTGC	0.647													46	39	---	---	---	---					
SPG21	51324	broad.mit.edu	37	15	65275846	65275846	+	Splice_Site	DEL	T	T	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:65275846delT	ENST00000204566.2	-	2	357	c.62delA	c.(61-63)aag>ag	p.K21fs	SPG21_ENST00000416889.2_Splice_Site_p.K21fs|SPG21_ENST00000560564.1_Intron|SPG21_ENST00000433215.2_Splice_Site_p.K21fs	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	21					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CATACATACCTTTTTAAGGGG	0.333													2	4	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398													7	164	---	---	---	---					
MYOM1	8736	broad.mit.edu	37	18	3164366	3164366	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:3164366delG	ENST00000356443.4	-	10	1744	c.1411delC	c.(1411-1413)catfs	p.H471fs	MYOM1_ENST00000261606.7_Frame_Shift_Del_p.H471fs|MYOM1_ENST00000400569.3_Frame_Shift_Del_p.H471fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	471	Ig-like C2-type 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGTTGAGATGGGAAAATGTC	0.393													9	15	---	---	---	---					
SMARCA4	6597	broad.mit.edu	37	19	11138595	11138596	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:11138595_11138596insTA	ENST00000358026.2	+	24	3635_3636	c.3351_3352insTA	c.(3352-3354)tatfs	p.Y1118fs	SMARCA4_ENST00000590574.1_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000541122.2_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000429416.3_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000413806.3_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000450717.3_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000344626.4_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000444061.3_Frame_Shift_Ins_p.Y1118fs|SMARCA4_ENST00000589677.1_Frame_Shift_Ins_p.Y1118fs	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1118	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATTACTTTGCGTATCGCGGCTT	0.475			"""F, N, Mis"""		NSCLC								7	196	---	---	---	---					
