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
DNAH9	1770	broad.mit.edu	37	17	11597302	11597302	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:11597302G>A	ENST00000262442.3	+	21	4800	c.4732G>A	c.(4732-4734)Gat>Aat	p.D1578N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1578N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1578	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)		AAAGCTGGAGGATATTCAGGG	0.478000													33	58					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69098179	69098179	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:69098179G>A	ENST00000295379.1	-	1	470	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	104					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AACTCCTAATGATGTTGGCAG	0.408000													23	111					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468262	50468262	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:50468262C>G	ENST00000331340.3	+	8	1652	c.1497C>G	c.(1495-1497)agC>agG	p.S499R	IKZF1_ENST00000343574.5_Missense_Mutation_p.S412R|IKZF1_ENST00000349824.4_Missense_Mutation_p.S356R|IKZF1_ENST00000359197.5_Missense_Mutation_p.S457R|IKZF1_ENST00000438033.1_Missense_Mutation_p.S412R|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Missense_Mutation_p.S269R|IKZF1_ENST00000439701.1_Missense_Mutation_p.S457R|IKZF1_ENST00000357364.4_Missense_Mutation_p.S412R	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	499					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCTACCACAGCCAGGACCGGT	0.622000			"""D,T"""	BCL6	"""ALL, DLBCL"""								18	32					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25465046	25465046	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:25465046C>T	ENST00000376351.3	+	1	1056	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	233						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GTGGAGGCCCCACTTACACCG	0.706000													6	7					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977848	70977848	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:70977848G>A	ENST00000393567.2	-	42	6686	c.6536C>T	c.(6535-6537)tCc>tTc	p.S2179F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2179										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)				AGGGCTGgaggaaatctgttg	0.567000													4	10					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145538785	145538785	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:145538785C>T	ENST00000369304.3	+	24	3071	c.2896C>T	c.(2896-2898)Cca>Tca	p.P966S	ITGA10_ENST00000539363.1_Missense_Mutation_p.P823S|ITGA10_ENST00000538811.1_Missense_Mutation_p.P835S	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	966					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGTCCTGGCCCAGAATTCAA	0.547000													8	48					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34575343	34575343	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:34575343C>T	ENST00000373973.3	+	7	916	c.743C>T	c.(742-744)tCt>tTt	p.S248F	CNBD2_ENST00000349339.1_Missense_Mutation_p.S248F|CNBD2_ENST00000538900.1_Missense_Mutation_p.S248F					cyclic nucleotide binding domain containing 2																		GCATCATGGTCTGATGAGAAG	0.498000													14	41					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257858	158257858	+	Silent	SNP	C	C	T	rs147207421		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:158257858C>T	ENST00000296526.7	+	11	2128	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S	GRIA2_ENST00000449365.1_Silent_p.S554S|GRIA2_ENST00000507898.1_Silent_p.S554S|GRIA2_ENST00000264426.9_Silent_p.S601S|GRIA2_ENST00000393815.2_Silent_p.S554S	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	601					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCTGGTTTTCCTTGGGTGCCT	0.433000													24	85					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66938175	66938175	+	Translation_Start_Site	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:66938175T>C	ENST00000269080.2	-	2	138	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ABCA8_ENST00000430352.2_Start_Codon_SNP_p.M1V|ABCA8_ENST00000586539.1_Start_Codon_SNP_p.M1V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTCTTCCTCATCTTGTCTTGT	0.308000													37	35					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105179203	105179203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:105179203C>T	ENST00000428173.2	+	21	3847	c.3544C>T	c.(3544-3546)Caa>Taa	p.Q1182*	NRK_ENST00000243300.9_Nonsense_Mutation_p.Q1181*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1181							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATCACCTAAGCAACCCTCTGA	0.413000										HNSCC(51;0.14)			49	85					0	0	1	0	0
STAT5A	6776	broad.mit.edu	37	17	40458352	40458352	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:40458352C>T	ENST00000345506.4	+	14	2209	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	STAT5A_ENST00000588868.1_Missense_Mutation_p.R492W|STAT5A_ENST00000452307.2_Missense_Mutation_p.R523W|STAT5A_ENST00000587646.1_Missense_Mutation_p.R11W|STAT5A_ENST00000546010.2_Missense_Mutation_p.R493W|STAT5A_ENST00000590949.1_Missense_Mutation_p.R523W	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	523					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCAGAGCAACCGGGGCCTGAC	0.592000													31	36					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169108786	169108786	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:169108786G>A	ENST00000256935.8	+	7	589	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	170					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGAAGACGGAAATATCTTG	0.413000													26	98					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56477635	56477635	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:56477635G>A	ENST00000291971.3	+	5	2341	c.2270G>A	c.(2269-2271)gGg>gAg	p.G757E	NLRP8_ENST00000590542.1_Missense_Mutation_p.G757E	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	757						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTTTTGACGGGGAACCAGCAT	0.527000													22	72					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63410656	63410656	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:63410656G>A	ENST00000330258.3	-	2	2783	c.2511C>T	c.(2509-2511)tcC>tcT	p.S837S	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									AGGCTTCCAAGGAGGCTGCAA	0.522000													5	11					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599709	29599709	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr13:29599709G>A	ENST00000431530.3	+	1	962	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	292						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCATCGAAGGAAATCCCAAG	0.507000													5	19					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153664096	153664096	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:153664096C>T	ENST00000369762.2	+	10	1333	c.1272C>T	c.(1270-1272)ccC>ccT	p.P424P		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	424					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTTCTCCCCCGGCATCTGGA	0.557000													7	371					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41503136	41503136	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:41503136G>A	ENST00000402904.2	-	13	1914	c.1546C>T	c.(1546-1548)Ccc>Tcc	p.P516S	SCMH1_ENST00000397171.2_Missense_Mutation_p.P455S|SCMH1_ENST00000397174.2_Missense_Mutation_p.P496S|SCMH1_ENST00000372595.1_Missense_Mutation_p.P455S|SCMH1_ENST00000372596.1_Missense_Mutation_p.P455S|SCMH1_ENST00000372597.1_Missense_Mutation_p.P469S|SCMH1_ENST00000361705.3_Missense_Mutation_p.P469S|SCMH1_ENST00000361191.5_Missense_Mutation_p.P455S|SCMH1_ENST00000337495.5_Missense_Mutation_p.P526S|SCMH1_ENST00000326197.7_Missense_Mutation_p.P516S|SCMH1_ENST00000456518.2_Missense_Mutation_p.P358S	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	516					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AGGTTGGTGGGATTTGAGGCA	0.552000													31	89					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660991	77660991	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:77660991C>T	ENST00000296043.6	+	5	2618	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	555					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGTCCCCTCCAAAGTCCATT	0.522000													30	124					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125830840	125830840	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:125830840G>A	ENST00000392693.3	-	20	3988	c.3861C>T	c.(3859-3861)acC>acT	p.T1287T	CDON_ENST00000531738.1_Silent_p.T641T|CDON_ENST00000263577.7_Silent_p.T1264T	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1287					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CATGTCCTCAGGTTTCCCGGG	0.542000													10	96					0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94800569	94800569	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:94800569G>A	ENST00000262554.2	-	13	1220	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	405						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CATCTTGCTCGCGAGACCCAG	0.498000													5	147					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41503135	41503135	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:41503135G>A	ENST00000402904.2	-	13	1915	c.1547C>T	c.(1546-1548)cCc>cTc	p.P516L	SCMH1_ENST00000397171.2_Missense_Mutation_p.P455L|SCMH1_ENST00000397174.2_Missense_Mutation_p.P496L|SCMH1_ENST00000372595.1_Missense_Mutation_p.P455L|SCMH1_ENST00000372596.1_Missense_Mutation_p.P455L|SCMH1_ENST00000372597.1_Missense_Mutation_p.P469L|SCMH1_ENST00000361705.3_Missense_Mutation_p.P469L|SCMH1_ENST00000361191.5_Missense_Mutation_p.P455L|SCMH1_ENST00000337495.5_Missense_Mutation_p.P526L|SCMH1_ENST00000326197.7_Missense_Mutation_p.P516L|SCMH1_ENST00000456518.2_Missense_Mutation_p.P358L	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	516					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AAGGTTGGTGGGATTTGAGGC	0.557000													31	89					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140389333	140389333	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:140389333C>T	ENST00000532602.1	+	4	3697	c.2664C>T	c.(2662-2664)ttC>ttT	p.F888F	PCDHAC2_ENST00000289269.5_Silent_p.F945F|PCDHAC1_ENST00000253807.2_Silent_p.F901F|PCDHA13_ENST00000289272.2_Silent_p.F888F|PCDHA3_ENST00000522353.2_Silent_p.F888F|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.F623F|PCDHA11_ENST00000398640.2_Silent_p.F887F|PCDHA7_ENST00000525929.1_Silent_p.F875F|PCDHA8_ENST00000531613.1_Silent_p.F888F|PCDHA1_ENST00000504120.2_Silent_p.F888F|PCDHA6_ENST00000527624.1_Silent_p.F624F|PCDHA5_ENST00000529859.1_Silent_p.F874F|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Silent_p.F879F|PCDHA4_ENST00000530339.1_Silent_p.F885F|PCDHA6_ENST00000529310.1_Silent_p.F888F|PCDHA2_ENST00000526136.1_Silent_p.F886F|PCDHA1_ENST00000394633.3_Silent_p.F624F|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Silent_p.F886F	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACAAATTCATTATCCCAG	0.517000													27	67					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073403	134073403	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:134073403G>T	ENST00000264360.4	+	1	2934	c.2108G>T	c.(2107-2109)aGt>aTt	p.S703I		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	703					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)		CAGCGCCCCAGTCGCTCTGGC	0.682000													10	55					1.76689e-08	1.82328e-08	1	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70713652	70713652	+	RNA	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:70713652C>T	ENST00000530196.1	-	0	866					NR_003951.1																						ACATGGAATCCACTATGTTGA	0.368000													10	40					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10436695	10436695	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:10436695C>T	ENST00000245503.5	-	21	2732	c.2348G>A	c.(2347-2349)cGa>cAa	p.R783Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R783Q|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	783	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTGTCATCTCGCATCTCCTC	0.488000													32	50					0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78641677	78641677	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:78641677G>A	ENST00000504123.1	-	12	1706	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S	CNOT6L_ENST00000264903.4_Missense_Mutation_p.P526S			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	526					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGGTCTGAAGGGATGTGAGGG	0.498000													20	107					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2763037	2763037	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:2763037T>C	ENST00000399655.1	+	33	4376	c.4111T>C	c.(4111-4113)Ttc>Ctc	p.F1371L	CACNA1C_ENST00000399595.1_Missense_Mutation_p.F1360L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.F1388L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.F1371L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.F1371L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.F1371L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.F1371L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.F1399L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.F1371L|CACNA1C_ENST00000347598.4_Missense_Mutation_p.F1419L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.F1391L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.F1360L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.F1396L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.F1371L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.F1393L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.F1371L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.F1371L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.F1371L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.F1371L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.F1371L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.F1358L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.F1371L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1419					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGTGATGCTGTTCTTCATCTA	0.637000													3	26					0	0	1	0	0
BOLL	66037	broad.mit.edu	37	2	198643759	198643759	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:198643759G>A	ENST00000321801.7	-	3	767	c.197C>T	c.(196-198)tCc>tTc	p.S66F	BOLL_ENST00000392296.4_Missense_Mutation_p.S54F|BOLL_ENST00000433157.1_Missense_Mutation_p.S54F|BOLL_ENST00000430004.1_Missense_Mutation_p.S54F|BOLL_ENST00000282278.8_5'UTR	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	54	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CCCATACTGGGAAAAAAATTT	0.318000													11	29					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468138	61468138	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr18:61468138G>A	ENST00000398019.2	+	7	961	c.636G>A	c.(634-636)cgG>cgA	p.R212R	SERPINB7_ENST00000546027.1_Silent_p.R212R|SERPINB7_ENST00000336429.2_Silent_p.R212R|SERPINB7_ENST00000540675.1_Silent_p.R195R	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	212					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATCAGGAACGGAAGTTCAATT	0.403000													15	75					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4927090	4927090	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:4927090C>T	ENST00000396658.4	+	15	3946	c.3243C>T	c.(3241-3243)tcC>tcT	p.S1081S	UBN1_ENST00000262376.6_Silent_p.S1081S|UBN1_ENST00000545171.1_Silent_p.S1081S|UBN1_ENST00000590769.1_Silent_p.S1081S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1081					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCCCCGGGTCCTTCCACCATG	0.587000													63	197					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415717	121415717	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:121415717T>A	ENST00000393667.3	-	13	3763	c.3653A>T	c.(3652-3654)aAt>aTt	p.N1218I	GOLGB1_ENST00000340645.5_Missense_Mutation_p.N1213I	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1213					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTGCAAGCGATTATAGTCATC	0.433000													32	143					0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98645495	98645495	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:98645495G>A	ENST00000361125.1	-	11	1361	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*	AC004893.11_ENST00000482799.2_RNA|SMURF1_ENST00000361368.2_Nonsense_Mutation_p.Q322*|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	348					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TCCTTGAGTTGGCACTGGTGA	0.597000													146	74					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183474360	183474360	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:183474360C>T	ENST00000305135.5	+	12	1630	c.1435C>T	c.(1435-1437)Ccg>Tcg	p.P479S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	479					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCTCGAACCCCGACTTCCAC	0.448000													25	124					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187825	58187825	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:58187825G>A	ENST00000318203.5	+	3	1009	c.312G>A	c.(310-312)gtG>gtA	p.V104V		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	104	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCCAGTGTGAAAGAGAAAT	0.428000													16	75					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18913297	18913297	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:18913297A>C	ENST00000379942.4	-	31	3960	c.3295T>G	c.(3295-3297)Tcc>Gcc	p.S1099A	PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1099	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCATCGATGGAGAGACCGTGG	0.537000													44	96					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118969826	118969826	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:118969826G>A	ENST00000328252.3	+	3	1939	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	524	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.E524Q(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTCAGAGGAGGAGTTGGCAGG	0.443000													7	37					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132238134	132238134	+	Splice_Site	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:132238134G>A	ENST00000265343.5	-	7	1512	c.1133_splice	c.e7+1	p.S378_splice	AFF4_ENST00000378595.3_Splice_Site_p.S378_splice	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	378	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAACTTACGATTTAGACTG	0.299000													9	26					0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75774259	75774259	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:75774259A>G	ENST00000376911.1	+	3	1072	c.190A>G	c.(190-192)Acc>Gcc	p.T64A	ANXA1_ENST00000257497.6_Missense_Mutation_p.T64A			P04083	ANXA1_HUMAN	annexin A1	64					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGATGAAGCAACCATCATTGA	0.378000													14	82					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49701918	49701918	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:49701918G>A	ENST00000296452.4	+	9	11785	c.11671G>A	c.(11671-11673)Gat>Aat	p.D3891N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3891					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCAGGTGCCGATGGGGAGAG	0.627000													27	86					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881619	26881619	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:26881619C>T	ENST00000231021.4	-	12	2168	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	666					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTATCTTCTTCCCCGCCGCCT	0.428000													25	104					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69434053	69434053	+	Missense_Mutation	SNP	C	C	G	rs150489120		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr8:69434053C>G	ENST00000337103.4	+	5	2044	c.452C>G	c.(451-453)tCt>tGt	p.S151C	C8orf34_ENST00000518698.1_Missense_Mutation_p.S262C|C8orf34_ENST00000539993.1_Missense_Mutation_p.S176C|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.S176C			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	176					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ACATTTAATTCTTCTCTTCTG	0.403000													8	28					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209776595	209776595	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:209776595C>T	ENST00000009105.1	+	4	503	c.258C>T	c.(256-258)atC>atT	p.I86I	CAMK1G_ENST00000361322.2_Silent_p.I86I			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	86	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TGGAGGACATCTATGAGAGCA	0.478000													7	29					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237395516	237395516	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:237395516C>T	ENST00000409907.3	-	5	950	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	IQCA1_ENST00000309507.5_Missense_Mutation_p.E222K|IQCA1_ENST00000431676.2_Missense_Mutation_p.E226K			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	226	IQ.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTTCAGTTTCCTTACGTTGA	0.333000													7	12					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96741118	96741118	+	Silent	SNP	C	C	T	rs60130805	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:96741118C>T	ENST00000260682.6	+	7	1152	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	380					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAAACTATCTCATTCCCAAGG	0.458000													20	47					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449913	158449913	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:158449913C>T	ENST00000368152.1	+	1	246	c.246C>T	c.(244-246)ttC>ttT	p.F82F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F82F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGTACTTCTTCCTTGGCATTC	0.413000													18	116					0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44048994	44048994	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:44048994C>T	ENST00000279036.6	+	7	872	c.792C>T	c.(790-792)ttC>ttT	p.F264F	PIGT_ENST00000341555.5_Silent_p.F70F|PIGT_ENST00000535404.1_Silent_p.F109F|PIGT_ENST00000372689.5_Silent_p.F264F|PIGT_ENST00000279035.9_Silent_p.F162F|PIGT_ENST00000543458.2_Silent_p.F208F|PIGT_ENST00000545755.1_Silent_p.F2F	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	264					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TCCGGATGTTCTCCCGAACCC	0.597000													10	18					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114658	40114658	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:40114658G>A	ENST00000324616.5	+	13	1718	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	522										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAAAACCAAGGAAAAAATGAA	0.294000													6	70					0	0	1	0	0
CCDC69	26112	broad.mit.edu	37	5	150578642	150578642	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:150578642C>T	ENST00000355417.2	-	4	409	c.235G>A	c.(235-237)Gag>Aag	p.E79K	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	79										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTCCTTCTCCACCTGGGGG	0.557000													23	106					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13751234	13751234	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:13751234C>T	ENST00000265104.4	-	65	11268	c.11164G>A	c.(11164-11166)Ggt>Agt	p.G3722S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3722	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTCTAGACCTTTCATGGTG	0.468000									Kartagener syndrome				16	57					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863064	154863064	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:154863064G>A	ENST00000287907.2	+	1	1031	c.455G>A	c.(454-456)cGc>cAc	p.R152H	AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	152						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TACACGCTCCGCACCCGCAAG	0.627000													16	78					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697250	153697250	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:153697250G>A	ENST00000369682.3	+	25	4547	c.4372G>A	c.(4372-4374)Gag>Aag	p.E1458K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1458					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCACGGGCGAGGCACGATA	0.617000													32	95					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571018	155571018	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:155571018G>A	ENST00000392845.2	-	1	1149	c.769C>T	c.(769-771)Ctt>Ttt	p.L257F	SLC33A1_ENST00000359479.3_Missense_Mutation_p.L257F|SLC33A1_ENST00000460729.1_5'UTR	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	257					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTACCTGAAAGAGTAACGATT	0.383000													6	38					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588827	247588827	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:247588827G>A	ENST00000366497.2	+	4	2862	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E	NLRP3_ENST00000366496.2_Silent_p.E694E|NLRP3_ENST00000348069.2_Silent_p.E694E|NLRP3_ENST00000391828.3_Silent_p.E694E|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.E694E|NLRP3_ENST00000336119.3_Silent_p.E694E	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	694	Poly-Glu.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAGAGGAGGAGGAAAAGGAAG	0.527000													3	33					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57407444	57407444	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:57407444C>T	ENST00000374900.4	+	7	1098	c.978C>T	c.(976-978)ctC>ctT	p.L326L		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	326						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ACCAAGATCTCATTATGACTC	0.313000										HNSCC(52;0.14)			26	45					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	30					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													3	10					0.150653	0.151043	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52356675	52356675	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:52356675G>A	ENST00000420323.2	+	2	478	c.217G>A	c.(217-219)Gac>Aac	p.D73N		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	73	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACACTCTCAGACTTGGGGCA	0.582000													13	32					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179733849	179733849	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:179733849C>T	ENST00000420890.2	-	15	2506	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E222K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	222							protein binding	p.E222K(1)|p.E797K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTACCTCTTCCTTGACTTGA	0.353000													18	85					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637059	39637059	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:39637059C>T	ENST00000246639.2	-	1	333	c.201G>A	c.(199-201)gaG>gaA	p.E67E	KRT35_ENST00000393989.1_Silent_p.E97E			Q92764	KRT35_HUMAN	keratin 35	97	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TGGTCTCCTTCTCATTGCCAG	0.647000													41	47					0	0	1	0	0
TMEM120A	83862	broad.mit.edu	37	7	75616450	75616450	+	RNA	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:75616450G>A	ENST00000338761.4	-	0	1160							Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											ACAACACACAGGACAGAAGCC	0.617000													3	8					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79832865	79832865	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:79832865G>A	ENST00000335016.5	+	16	3330	c.3164G>A	c.(3163-3165)aGg>aAg	p.R1055K	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1055						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GGGAAAGATAGGGGGAATGTC	0.507000													22	93					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160145964	160145964	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:160145964G>A	ENST00000368081.4	+	16	2865	c.2394G>A	c.(2392-2394)atG>atA	p.M798I	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	798					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTCCTGATGTTCATCATCC	0.532000													23	154					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71791240	71791240	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:71791240G>C	ENST00000258104.3	+	24	2685	c.2408G>C	c.(2407-2409)cGt>cCt	p.R803P	DYSF_ENST00000409582.3_Missense_Mutation_p.R820P|DYSF_ENST00000429174.2_Missense_Mutation_p.R803P|DYSF_ENST00000409366.1_Missense_Mutation_p.R804P|DYSF_ENST00000413539.2_Missense_Mutation_p.R834P|DYSF_ENST00000410020.3_Missense_Mutation_p.R821P|DYSF_ENST00000410041.1_Missense_Mutation_p.R821P|DYSF_ENST00000409744.1_Missense_Mutation_p.R790P|DYSF_ENST00000394120.2_Missense_Mutation_p.R804P|DYSF_ENST00000409762.1_Missense_Mutation_p.R820P|DYSF_ENST00000409651.1_Missense_Mutation_p.R835P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	803						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAGACAAGCGTGTGGCATAC	0.612000													15	67					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230102	140230102	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:140230102G>A	ENST00000378122.3	+	1	2746	c.2022G>A	c.(2020-2022)caG>caA	p.Q674Q	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.Q674Q|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCGGCCAGGCGCCAAAGT	0.677000													21	80					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508601	37508601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:37508601C>T	ENST00000374660.1	+	40	4249	c.4150C>T	c.(4150-4152)Cag>Tag	p.Q1384*	ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Q1265*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Q1265*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1321						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTCTCTAGATCAGAAATTATT	0.353000													8	24					0	0	1	0	0
ANKRD54	129138	broad.mit.edu	37	22	38229717	38229717	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:38229717C>T	ENST00000215941.4	-	4	713	c.521G>A	c.(520-522)gGg>gAg	p.G174E	ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000411961.2_Missense_Mutation_p.G158E|ANKRD54_ENST00000406423.1_Missense_Mutation_p.G54E	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	174										lung(1)	1	Melanoma(58;0.045)					GTTCCCCAGCCCATCTCGCTG	0.547000													5	39					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209142372	209142372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:209142372C>T	ENST00000264380.4	+	5	711	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000407449.1_Nonsense_Mutation_p.Q185*|PIKFYVE_ENST00000308862.6_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	185					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACTATGTGGGCAGATTTTCTG	0.393000													29	84					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790153	248790153	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:248790153C>T	ENST00000330803.2	-	1	338	c.277G>A	c.(277-279)Gcc>Acc	p.A93T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGCCACAGGCCACAAAGGAA	0.502000													6	36					0	0	1	0	0
M6PR	4074	broad.mit.edu	37	12	9096120	9096120	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:9096120G>A	ENST00000000412.3	-	5	933	c.465C>T	c.(463-465)aaC>aaT	p.N155N		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	155					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		CAGACACAGGGTTAAAATTGT	0.448000													14	41					0	0	1	0	0
RAB5A	5868	broad.mit.edu	37	3	20025232	20025232	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:20025232C>T	ENST00000273047.4	+	6	1101	c.565C>T	c.(565-567)Cca>Tca	p.P189S	RAB5A_ENST00000422242.1_Missense_Mutation_p.P175S	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	189					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						ACCACAAAATCCAGGAGCAAA	0.353000													5	31					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198985	118198985	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:118198985G>A	ENST00000425217.1	-	4	784	c.730C>T	c.(730-732)Ccg>Tcg	p.P244S	KSR2_ENST00000339824.5_Missense_Mutation_p.P273S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	273	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCCCGGCGGGGTCACGGTG	0.701000													60	178					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077822	79077822	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:79077822C>T	ENST00000321300.6	+	9	1073	c.980C>T	c.(979-981)cCg>cTg	p.P327L	BAIAP2_ENST00000428708.2_Missense_Mutation_p.P327L|BAIAP2_ENST00000392411.3_Missense_Mutation_p.P249L|BAIAP2_ENST00000575712.1_Missense_Mutation_p.P327L|BAIAP2_ENST00000416299.2_Missense_Mutation_p.P190L|BAIAP2_ENST00000321280.7_Missense_Mutation_p.P327L|BAIAP2_ENST00000575245.1_Missense_Mutation_p.P360L|BAIAP2_ENST00000435091.3_Missense_Mutation_p.P327L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	327					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTGTCTCCTCCGCAGTCTCAG	0.617000													46	63					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903202	5903202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:5903202C>T	ENST00000378961.4	+	4	616	c.412C>T	c.(412-414)Cag>Tag	p.Q138*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	138						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGATGAGCCCCAGTGGAGCCT	0.602000													4	23					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338351	103338351	+	Silent	SNP	G	G	A	rs142192165		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:103338351G>A	ENST00000428762.1	-	10	1251	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	RELN_ENST00000343529.5_Silent_p.L364L|RELN_ENST00000424685.2_Silent_p.L364L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	364					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACTGGGTCGAGACTATCTT	0.418000													67	47					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235967804	235967804	+	Splice_Site	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:235967804C>T	ENST00000389794.3	-	7	3729	c.3555_splice	c.e7+1	p.K1185_splice	LYST_ENST00000536965.1_Splice_Site_p.K1185_splice|LYST_ENST00000389793.2_Splice_Site_p.K1185_splice			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1185					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTATTCATACCTTCTCAGTCA	0.418000													8	72					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974793	49974793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:49974793C>A	ENST00000555099.1	+	1	851	c.819C>A	c.(817-819)taC>taA	p.Y273*		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTGTATTCTACACTATGATAA	0.368000													12	85					0.000978159	0.000990929	1	1	0
DROSHA	29102	broad.mit.edu	37	5	31526644	31526644	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:31526644G>A	ENST00000511367.2	-	4	640	c.396C>T	c.(394-396)gtC>gtT	p.V132V	DROSHA_ENST00000442743.1_Silent_p.V132V|DROSHA_ENST00000513349.1_Silent_p.V132V|DROSHA_ENST00000344624.3_Silent_p.V132V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	132	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.V132V(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTGCCCCAGGGACTGGGGGGT	0.607000													8	26					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629267	47629267	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:47629267G>A	ENST00000546455.1	+	4	1152	c.421G>A	c.(421-423)Gag>Aag	p.E141K	PCED1B_ENST00000432328.1_Missense_Mutation_p.E141K					PC-esterase domain containing 1B																		AAGCTACCTGGAGAACCTGGA	0.622000													19	57					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44121498	44121498	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:44121498C>T	ENST00000259746.9	+	21	2211	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	TMEM63B_ENST00000323267.6_Silent_p.I676I			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	676						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ACAAGAAGATCCACTCGGGGG	0.587000													32	45					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108013893	108013893	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:108013893C>T	ENST00000280758.5	+	11	3111	c.2583C>T	c.(2581-2583)ctC>ctT	p.L861L	BTBD11_ENST00000420571.2_Silent_p.L742L|BTBD11_ENST00000490090.2_Silent_p.L861L|BTBD11_ENST00000357167.4_Silent_p.L398L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	861						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGGAGGAGCTCGTTACCCAAG	0.532000													8	75					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85487807	85487807	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:85487807C>T	ENST00000394573.1	+	17	1876	c.1674C>T	c.(1672-1674)gtC>gtT	p.V558V	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000537624.1_Silent_p.V558V|SLC28A1_ENST00000538177.1_Silent_p.V392V|SLC28A1_ENST00000286749.3_Silent_p.V558V	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	558					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTCCATGGTCCCCCAACGGA	0.642000													4	32					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242684183	242684183	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:242684183C>T	ENST00000321264.4	+	6	953	c.744C>T	c.(742-744)ggC>ggT	p.G248G	D2HGDH_ENST00000403782.1_Silent_p.G114G|D2HGDH_ENST00000342518.6_Silent_p.G248G|D2HGDH_ENST00000537090.1_Silent_p.G248G	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	248	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACAACACGGGCTATGACCTGA	0.612000													29	93					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269602	30269602	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:30269602C>A	ENST00000378981.3	+	4	1313	c.992C>A	c.(991-993)aCt>aAt	p.T331N	MAGEB1_ENST00000397548.2_Missense_Mutation_p.T331N|MAGEB1_ENST00000397550.1_Missense_Mutation_p.T331N	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	331										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACTGCCACGACTTTTAGAGCG	0.522000													12	116					1.36491e-13	1.43519e-13	1	1	0
ELFN2	114794	broad.mit.edu	37	22	37770734	37770734	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:37770734G>A	ENST00000402918.1	-	3	1626	c.841C>T	c.(841-843)Ctt>Ttt	p.L281F	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.L281F	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	281						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCACCGAAAGGATCTCGTCG	0.692000													21	77					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32655964	32655964	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:32655964C>T	ENST00000421745.2	+	12	3188	c.3054C>T	c.(3052-3054)acC>acT	p.T1018T		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1018					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGCCATTCACCCTTGAAATCT	0.398000													12	45					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95718511	95718511	+	RNA	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:95718511C>T	ENST00000480546.1	-	0	2786					NR_002319.2																						ACCCTATATTCCGTGCTTCCC	0.423000													11	13					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703360	52703360	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:52703360G>A	ENST00000287727.3	+	4	443	c.271G>A	c.(271-273)Gga>Aga	p.G91R	ZFYVE9_ENST00000361625.1_Missense_Mutation_p.G91R|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.G91R|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.G91R	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	91					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CTGTGCTAATGGACAGGACTG	0.428000													18	47					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420995	105420995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:105420995G>A	ENST00000333244.5	-	7	912	c.793C>T	c.(793-795)Caa>Taa	p.Q265*		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	265						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)			TTTATGGATTGAAATTTTGGC	0.577000													5	12					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3508582	3508582	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr18:3508582A>C	ENST00000315677.3	-	11	3152	c.2557T>G	c.(2557-2559)Tgt>Ggt	p.C853G	DLGAP1_ENST00000584874.1_Missense_Mutation_p.C853G|DLGAP1_ENST00000581699.1_Missense_Mutation_p.C559G|DLGAP1_ENST00000539435.1_Missense_Mutation_p.C561G|DLGAP1_ENST00000534970.1_Missense_Mutation_p.C537G|DLGAP1_ENST00000515196.2_Missense_Mutation_p.C853G|DLGAP1_ENST00000400145.2_Missense_Mutation_p.C551G|DLGAP1_ENST00000400147.2_Missense_Mutation_p.C551G|DLGAP1_ENST00000400149.3_Missense_Mutation_p.C543G|DLGAP1_ENST00000400150.3_Missense_Mutation_p.C569G|DLGAP1_ENST00000400155.1_Missense_Mutation_p.C559G|DLGAP1_ENST00000581527.1_Missense_Mutation_p.C853G	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	853					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TTTTCTTCACACAGTTCTCTG	0.458000													4	22					0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63970980	63970980	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:63970980C>T	ENST00000358794.5	+	13	2139	c.1586C>T	c.(1585-1587)cCc>cTc	p.P529L	STIP1_ENST00000538945.1_Missense_Mutation_p.P458L|STIP1_ENST00000305218.4_Missense_Mutation_p.P482L			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	482	STI1 2.				axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CACGACAGCCCCGAAGATGTG	0.597000													7	31					0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47269689	47269689	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:47269689C>T	ENST00000377073.3	+	2	173	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	29	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CCGTGTCATTCGAGGATGTGG	0.498000													30	129					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458507	120458507	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:120458507G>A	ENST00000256646.2	-	34	7057	c.6838C>T	c.(6838-6840)Cct>Tct	p.P2280S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2280					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTATGCCAGGATGGGTGCCC	0.572000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				17	121					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059040	79059040	+	Silent	SNP	A	A	G	rs144043775	by1000genomes	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617000													3	49					0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775087	231775087	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:231775087C>T	ENST00000392040.1	-	2	783	c.591G>A	c.(589-591)atG>atA	p.M197I	GPR55_ENST00000392039.2_Missense_Mutation_p.M197I	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	197					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGCAGAAGCCCATGATGCCCA	0.567000													28	65					0	0	1	0	0
CCDC160	347475	broad.mit.edu	37	X	133379605	133379605	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:133379605C>T	ENST00000517294.1	+	3	1158	c.775C>T	c.(775-777)Cta>Tta	p.L259L	CCDC160_ENST00000370809.4_Silent_p.L259L			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	259										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAATGTGCTCCTAAAAGAAGA	0.388000													5	24					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109813882	109813882	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:109813882C>T	ENST00000271332.3	+	26	7701	c.7640C>T	c.(7639-7641)gCt>gTt	p.A2547V	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2547					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCTCCTGTGCTGCCCAGCGG	0.637000													9	130					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071S(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617000													3	49					0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60268635	60268635	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:60268635C>G	ENST00000016913.4	+	3	451	c.394C>G	c.(394-396)Cca>Gca	p.P132A	MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	132						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGGTGGATACCCATTCTGGGG	0.383000													19	58					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152432838	152432838	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:152432838G>A	ENST00000397345.3	-	106	16937	c.16735C>T	c.(16735-16737)Cgt>Tgt	p.R5579C	NEB_ENST00000172853.10_Missense_Mutation_p.R3878C|NEB_ENST00000409198.1_Missense_Mutation_p.R3878C|NEB_ENST00000604864.1_Missense_Mutation_p.R5579C|NEB_ENST00000603639.1_Missense_Mutation_p.R5579C|NEB_ENST00000427231.2_Missense_Mutation_p.R5579C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5590					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAATGCCACGCAACCACTCC	0.473000													14	78					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31864597	31864597	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:31864597G>A	ENST00000396184.3	-	14	1494	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	PDE1C_ENST00000396193.1_Silent_p.F490F|PDE1C_ENST00000321453.7_Silent_p.F430F|PDE1C_ENST00000396182.2_Silent_p.F430F|PDE1C_ENST00000396191.1_Silent_p.F430F	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	430	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGAAATCAATGAAACCTGAAG	0.438000													70	53					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	88123744	88123744	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:88123744G>A	ENST00000327946.7	-	2	274	c.189C>T	c.(187-189)tcC>tcT	p.S63S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	63						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGACCTTGATGGAGTAGGTGA	0.612000										Multiple Myeloma(13;0.14)			13	34					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200943879	200943879	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:200943879T>C	ENST00000332129.2	-	33	5054	c.4738A>G	c.(4738-4740)Atc>Gtc	p.I1580V	KIF21B_ENST00000461742.2_Missense_Mutation_p.I1593V|KIF21B_ENST00000360529.5_Missense_Mutation_p.I1580V|KIF21B_ENST00000422435.2_Missense_Mutation_p.I1593V	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1593					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTGGTGCAGATGGCATTGATG	0.592000													15	68					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333026	57333026	+	Missense_Mutation	SNP	C	C	T	rs138565582	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:57333026C>T	ENST00000326441.9	-	7	1025	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	ZIM2_ENST00000601070.1_Missense_Mutation_p.R96Q|ZIM2_ENST00000593711.1_Missense_Mutation_p.R96Q|PEG3_ENST00000598410.1_Missense_Mutation_p.R96Q|ZIM2_ENST00000599935.1_Missense_Mutation_p.R96Q|PEG3_ENST00000593695.1_Missense_Mutation_p.R95Q|PEG3_ENST00000423103.2_Missense_Mutation_p.R221Q|ZIM2_ENST00000391708.3_Missense_Mutation_p.R96Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.R96Q	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	221					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TACCTGAGATCGGGACTCATA	0.527000													30	134					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247586553	247586553	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:247586553C>T	ENST00000366497.2	+	3	1085	c.305C>T	c.(304-306)tCg>tTg	p.S102L	NLRP3_ENST00000366496.2_Missense_Mutation_p.S102L|NLRP3_ENST00000348069.2_Missense_Mutation_p.S102L|NLRP3_ENST00000391828.3_Missense_Mutation_p.S102L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.S102L|NLRP3_ENST00000336119.3_Missense_Mutation_p.S102L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	102					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.S102L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCACGTGTTTCGAATCCCACT	0.403000													10	99					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412580	130412580	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:130412580G>A	ENST00000370904.1	-	18	2779	c.1869C>T	c.(1867-1869)atC>atT	p.I623I	IGSF1_ENST00000370903.3_Silent_p.I637I|IGSF1_ENST00000370910.1_Silent_p.I623I|IGSF1_ENST00000361420.3_Silent_p.I632I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	632	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCGAGTGGCGATCCACCCGG	0.617000													50	101					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133531	89133531	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:89133531G>A	ENST00000535633.1	-	10	1101	c.791C>T	c.(790-792)tCt>tTt	p.S264F	NOX4_ENST00000534731.1_Missense_Mutation_p.S288F|NOX4_ENST00000263317.4_Missense_Mutation_p.S288F|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.S122F|NOX4_ENST00000542487.1_Missense_Mutation_p.S264F|NOX4_ENST00000424319.1_Missense_Mutation_p.S264F|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000343727.5_Missense_Mutation_p.S264F|NOX4_ENST00000528341.1_Missense_Mutation_p.S263F|NOX4_ENST00000527956.1_Missense_Mutation_p.S264F|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.S309F|NOX4_ENST00000532825.1_Missense_Mutation_p.S264F	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	288	Ferric oxidoreductase.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CAAAGGTCCAGAAATCCAAAG	0.398000													11	31					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	90					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735766	55735766	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:55735766G>A	ENST00000312345.2	-	1	224	c.174C>T	c.(172-174)tcC>tcT	p.S58S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S58S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTTCCAAAAGGGAAAAATTGC	0.348000													7	61					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1409343	1409343	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:1409343G>A	ENST00000381524.3	+	7	773	c.587G>A	c.(586-588)gGa>gAa	p.G196E	CSF2RA_ENST00000381529.3_Missense_Mutation_p.G196E|CSF2RA_ENST00000355805.2_Missense_Mutation_p.G196E|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G196E|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G196E|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G196E|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G196E|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G196E|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G196E|CSF2RA_ENST00000501036.2_Missense_Mutation_p.G63E			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	196			G -> R (in SMDP4).			extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGGTTAACGGAACCAGCCGA	0.398000													110	199					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242007270	242007270	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:242007270C>T	ENST00000310397.8	+	22	3102	c.3102C>T	c.(3100-3102)acC>acT	p.T1034T	SNED1_ENST00000342631.6_Silent_p.T1034T|SNED1_ENST00000401884.1_Silent_p.T1034T|SNED1_ENST00000405547.3_Silent_p.T1034T	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1034	Fibronectin type-III 2.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCCATGCCACCGTCAGTGGGG	0.627000													12	27					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21237426	21237426	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:21237426G>T	ENST00000233242.1	-	24	3863	c.3736C>A	c.(3736-3738)Cct>Act	p.P1246T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1246					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGGTATAAGGAAGACTCCCA	0.458000													10	26					6.42651e-13	6.72099e-13	1	1	0
STIM1	6786	broad.mit.edu	37	11	4095772	4095772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:4095772G>T	ENST00000300737.4	+	7	1401	c.832G>T	c.(832-834)Gag>Tag	p.E278*	STIM1_ENST00000533977.1_Nonsense_Mutation_p.E105*|STIM1_ENST00000527651.1_Nonsense_Mutation_p.E278*	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	278	Glu-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGTGGAGGTGGAGAAGGTCCA	0.627000													9	17					2.17888e-05	2.23062e-05	1	1	0
GPR42	2866	broad.mit.edu	37	19	35862350	35862350	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:35862350C>T	ENST00000454971.1	+	2	290	c.89C>T	c.(88-90)cCc>cTc	p.P30L	GPR42_ENST00000597214.1_Missense_Mutation_p.P30L					G protein-coupled receptor 42 (gene/pseudogene)											endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTGGGGCTCCCCCTCAACCTG	0.647000													19	71					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39442804	39442804	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr8:39442804G>A	ENST00000265707.5	+	2	110	c.65G>A	c.(64-66)gGa>gAa	p.G22E	ADAM18_ENST00000520772.1_Missense_Mutation_p.G22E|ADAM18_ENST00000379866.1_Missense_Mutation_p.G22E|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	22					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GGTTCTGAAGGAATATTTCTG	0.378000													8	43					0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83971041	83971041	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:83971041C>T	ENST00000509093.1	+	4	1092	c.314C>T	c.(313-315)tCc>tTc	p.S105F	COPS4_ENST00000503682.1_Missense_Mutation_p.S105F|COPS4_ENST00000511653.1_Missense_Mutation_p.S105F|COPS4_ENST00000264389.2_Missense_Mutation_p.S105F	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	105					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CAGGTTGCTTCCATAAGACAG	0.333000													20	88					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48925889	48925889	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:48925889G>A	ENST00000294954.7	-	9	752	c.731C>T	c.(730-732)tCc>tTc	p.S244F	LHCGR_ENST00000401907.1_Missense_Mutation_p.S244F|LHCGR_ENST00000403273.1_Missense_Mutation_p.S244F|LHCGR_ENST00000344775.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.S244F	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	244					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCTCTGAATGGACTCTAGGCC	0.408000													6	37					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209960	140209960	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:140209960G>A	ENST00000529310.1	+	1	2398	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTCCGGGGAGGGCCCACC	0.602000													13	42					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6183197	6183197	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:6183197G>A	ENST00000588304.1	+	10	1532	c.1086G>A	c.(1084-1086)ttG>ttA	p.L362L	ACSBG2_ENST00000591403.1_Silent_p.L412L|ACSBG2_ENST00000252669.5_Silent_p.L412L|ACSBG2_ENST00000588485.1_Silent_p.L225L|ACSBG2_ENST00000586696.1_Silent_p.L412L|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	412					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCTAAGCTTGGACATACCTA	0.512000													15	69					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162929987	162929987	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:162929987T>C	ENST00000360534.3	-	2	576	c.16A>G	c.(16-18)Aag>Gag	p.K6E	AC008063.2_ENST00000418335.1_RNA	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	6				K -> R (in Ref. 2; AAA52308).	cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AGAAGAACCTTCCACGGTGTC	0.552000													15	46					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821124	72821124	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:72821124T>A	ENST00000268489.5	-	10	11723	c.11051A>T	c.(11050-11052)gAc>gTc	p.D3684V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D2770V|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3684					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCAGCTGGGGTCTTTGGGACC	0.517000													59	218					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468263	50468263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:50468263C>T	ENST00000331340.3	+	8	1653	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	IKZF1_ENST00000343574.5_Nonsense_Mutation_p.Q413*|IKZF1_ENST00000349824.4_Nonsense_Mutation_p.Q357*|IKZF1_ENST00000359197.5_Nonsense_Mutation_p.Q458*|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.Q413*|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Nonsense_Mutation_p.Q270*|IKZF1_ENST00000439701.1_Nonsense_Mutation_p.Q458*|IKZF1_ENST00000357364.4_Nonsense_Mutation_p.Q413*	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	500					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CTACCACAGCCAGGACCGGTA	0.627000			"""D,T"""	BCL6	"""ALL, DLBCL"""								17	32					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32655963	32655963	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:32655963C>T	ENST00000421745.2	+	12	3187	c.3053C>T	c.(3052-3054)aCc>aTc	p.T1018I		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1018					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGCCATTCACCCTTGAAATC	0.393000													12	45					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107412742	107412742	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:107412742C>T	ENST00000334504.7	-	37	3907	c.3674G>A	c.(3673-3675)gGg>gAg	p.G1225E	COL4A6_ENST00000538570.1_Missense_Mutation_p.G1201E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1226E|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1226E|COL4A6_ENST00000545689.1_Missense_Mutation_p.G1201E	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1226	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACCTTTTTGCCCTCTCAGGCC	0.582000									Alport syndrome with Diffuse Leiomyomatosis				14	73					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072544	75072544	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:75072544C>T	ENST00000326665.5	-	10	1448	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	C1orf173_ENST00000420661.2_Silent_p.P213P|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	410								p.P410P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGATTTCGGCAAAGACG	0.413000													13	90					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179736979	179736979	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:179736979C>T	ENST00000420890.2	-	13	2077	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E79K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	79							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCTGGTTTTCCATGGTGTTC	0.423000													9	35					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997273	146997273	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:146997273C>T	ENST00000361727.3	+	9	1905	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	463	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGTTCGCTTCCTAGCCAAGG	0.408000										HNSCC(39;0.1)			25	112					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123249598	123249598	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:123249598G>C	ENST00000349780.4	-	14	1779	c.1600C>G	c.(1600-1602)Cca>Gca	p.P534A	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.P534A|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.P534A|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.P534A	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	534					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTGCTGCCTGGTGGCTGTTGA	0.398000													17	107					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46443427	46443427	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:46443427G>A	ENST00000263257.5	-	4	1367	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	391	Ala-rich.|Gly-rich.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGAAgcccccggccgccccgg	0.771000													22	57					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745664	77745664	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:77745664T>C	ENST00000409088.3	-	3	1745	c.1331A>G	c.(1330-1332)tAt>tGt	p.Y444C	LRRTM4_ENST00000409884.1_Missense_Mutation_p.Y444C|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Y445C|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Y445C|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Y444C	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	444						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCAAGACACATAGATCACCAA	0.483000													4	61					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103381207	103381207	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:103381207G>A	ENST00000358392.2	-	50	4149	c.3832C>T	c.(3832-3834)Cct>Tct	p.P1278S	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1150S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1266S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1227S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1266	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTTCCCCAGGAGGCCCTGGG	0.363000													10	65					0	0	1	0	0
AWAT2	158835	broad.mit.edu	37	X	69263353	69263353	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:69263353G>A	ENST00000276101.3	-	4	452	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	149						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						ATTCTCTGAGGAAAGGCATCC	0.488000													6	40					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784467	30784467	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:30784467G>A	ENST00000246229.4	-	3	1543	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	427						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTTACACGGGGGCAGGTTG	0.607000													16	25					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212589846	212589846	+	Silent	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:212589846T>C	ENST00000342788.4	-	6	1006	c.696A>G	c.(694-696)cgA>cgG	p.R232R	ERBB4_ENST00000402597.1_Silent_p.R232R|ERBB4_ENST00000436443.1_Silent_p.R232R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	232	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGCACATTCTCGATGGCAGC	0.488000										TSP Lung(8;0.080)			9	95					0	0	1	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367219	3367219	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:3367219C>T	ENST00000574298.1	+	6	714	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						CACTGAAAATCATCAGCCTGT	0.378000													16	55					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136660	19136660	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:19136660G>A	ENST00000601879.1	-	3	794	c.497C>T	c.(496-498)cCc>cTc	p.P166L	SUGP2_ENST00000600377.1_Missense_Mutation_p.P180L|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000337018.6_Missense_Mutation_p.P166L|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Missense_Mutation_p.P166L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	166					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						AACTGCAGAGGGACCAAAACT	0.502000													14	70					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141006946	141006946	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:141006946C>T	ENST00000277549.5	+	40	5676	c.3107C>T	c.(3106-3108)cCa>cTa	p.P1036L	CACNA1B_ENST00000371372.1_Missense_Mutation_p.P1842L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.P1842L|CACNA1B_ENST00000371365.2_3'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P1843L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.P1841L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P1840L			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1842					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTGCTGGTACCACCCCATAAG	0.582000													5	48					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102008306	102008306	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:102008306G>A	ENST00000549145.1	+	2	158	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	MYBPC1_ENST00000553190.1_Missense_Mutation_p.E20K|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000550501.1_3'UTR|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E20K|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E20K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E20K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E20K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E20K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E20K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E20K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E20K|MYBPC1_ENST00000392934.3_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E20K|MYBPC1_ENST00000541119.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	20					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCCACCCCCGGAAGGTGAGTA	0.507000													6	17					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078616	11078616	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:11078616G>A	ENST00000287766.4	+	16	2185	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	SLC6A1_ENST00000536032.1_Silent_p.Q410Q	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	588					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	AGCAGCCCCAGGCGGGCAGCT	0.647000													24	62					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	35					0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56923902	56923902	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:56923902C>T	ENST00000559237.1	-	21	3378	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	ZNF280D_ENST00000267807.7_Missense_Mutation_p.E912K	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTGCCTTGCTCGCTAACATCA	0.393000													5	76					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29576392	29576392	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:29576392G>A	ENST00000377034.4	-	16	2313	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	GABBR1_ENST00000377012.4_Missense_Mutation_p.P543S|GABBR1_ENST00000355973.3_Missense_Mutation_p.P543S|GABBR1_ENST00000377016.4_Missense_Mutation_p.P598S|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	660					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CAGACGAAAGGAAACTGGTTC	0.552000													17	37					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135537689	135537689	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:135537689T>C	ENST00000372159.3	-	3	833	c.682A>G	c.(682-684)Act>Gct	p.T228A	DDX31_ENST00000310532.2_Missense_Mutation_p.T228A|DDX31_ENST00000438527.3_Missense_Mutation_p.T99A|DDX31_ENST00000544003.1_Missense_Mutation_p.T132A|DDX31_ENST00000372153.1_Missense_Mutation_p.T228A|DDX31_ENST00000480876.1_5'UTR	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	228						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GCAGCTGAAGTAAACACTTTT	0.418000													12	30					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69299326	69299326	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:69299326C>T	ENST00000433211.1	-	4	568	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CTNNA3_ENST00000373744.4_Missense_Mutation_p.V132M|CTNNA3_ENST00000545309.1_Missense_Mutation_p.V132M	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	132					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGTCTCGTCACCGCAGCCAGC	0.483000													17	46					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129493	83129493	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:83129493G>A	ENST00000329312.4	+	4	1814	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	593					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGAAAAAGGGGAAAAAGCAAG	0.423000													11	47					0	0	1	0	0
NPM1	4869	broad.mit.edu	37	5	170834760	170834760	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:170834760C>T	ENST00000296930.5	+	10	1129	c.828C>T	c.(826-828)ttC>ttT	p.F276F	NPM1_ENST00000517671.1_Silent_p.F276F|NPM1_ENST00000351986.6_Silent_p.F247F	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	276	Required for nucleolar localization.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAATTGCTTCCGGATGACTG	0.358000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								17	47					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8449747	8449747	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:8449747C>T	ENST00000381196.4	-	31	4509	c.3966G>A	c.(3964-3966)agG>agA	p.R1322R	PTPRD_ENST00000397611.3_Silent_p.R912R|PTPRD_ENST00000355233.5_Silent_p.R916R|PTPRD_ENST00000360074.4_Silent_p.R1309R|PTPRD_ENST00000397606.3_Silent_p.R901R|PTPRD_ENST00000537002.1_Silent_p.R912R|PTPRD_ENST00000356435.5_Silent_p.R1322R|PTPRD_ENST00000486161.1_Silent_p.R915R|PTPRD_ENST00000358503.5_Silent_p.R1300R|PTPRD_ENST00000540109.1_Silent_p.R1322R|PTPRD_ENST00000397617.3_Silent_p.R901R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1322					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTTAAGGCGCCTCAGTTCTA	0.463000										TSP Lung(15;0.13)			24	77					0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641074	55641074	+	Translation_Start_Site	SNP	G	G	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:55641074G>T	ENST00000343870.4	+	1	93	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AATCAACTATGAGAAACCATA	0.318000													10	40					2.27111e-07	2.33738e-07	1	1	0
GAB4	128954	broad.mit.edu	37	22	17472953	17472953	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:17472953C>T	ENST00000400588.1	-	2	395	c.288G>A	c.(286-288)ctG>ctA	p.L96L	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	96	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CACAGAGGTTCAGGTTGATGG	0.498000													48	192					0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39667306	39667306	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:39667306C>T	ENST00000599386.1	+	7	1158	c.977C>T	c.(976-978)cCc>cTc	p.P326L	PAK4_ENST00000358301.3_Missense_Mutation_p.P479L|PAK4_ENST00000360442.3_Missense_Mutation_p.P479L|PAK4_ENST00000593690.1_Missense_Mutation_p.P479L|PAK4_ENST00000435673.2_Missense_Mutation_p.P479L|PAK4_ENST00000321944.4_Missense_Mutation_p.P389L|PAK4_ENST00000599470.1_Missense_Mutation_p.P326L	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	479	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GTCGGCACGCCCTACTGGATG	0.662000													42	162					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120760567	120760567	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:120760567A>T	ENST00000273666.6	+	4	579	c.308A>T	c.(307-309)gAt>gTt	p.D103V	STXBP5L_ENST00000497029.1_Missense_Mutation_p.D103V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D103V|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D103V|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D103V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	103					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCTGGTGTTGATTGCTATTGC	0.348000													4	46					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166974497	166974497	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:166974497C>T	ENST00000367872.4	+	8	952	c.708C>T	c.(706-708)atC>atT	p.I236I	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Silent_p.I205I	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	236					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TGGAAGAAATCAGGCAAGATC	0.363000													9	18					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10662725	10662725	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:10662725C>T	ENST00000309469.4	+	8	1223	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	ATG4D_ENST00000540862.1_Silent_p.D17D	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	350					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			cTGCAGATGACTTCCTGCTGT	0.632000													19	64					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6021900	6021900	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:6021900G>A	ENST00000378858.4	-	5	2215	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	664	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCAGCCCGAAGACCGTGGCTG	0.731000													10	27					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248005106	248005106	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:248005106G>A	ENST00000355784.2	-	1	148	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGATGAGCAGGAAAATGACAA	0.507000													12	31					0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69457861	69457861	+	Silent	SNP	C	C	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:69457861C>G	ENST00000227507.2	+	2	488	c.261C>G	c.(259-261)cgC>cgG	p.R87R	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	87	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	ACCTGGACCGCTTCCTGTCGC	0.647000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			4	22					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41244256	41244256	+	Missense_Mutation	SNP	G	G	T	rs80357992		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:41244256G>T	ENST00000309486.4	-	9	3431	c.2404C>A	c.(2404-2406)Ctt>Att	p.L802I	BRCA1_ENST00000471181.2_Missense_Mutation_p.L1098I|BRCA1_ENST00000346315.3_Missense_Mutation_p.L1098I|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.L1098I|BRCA1_ENST00000493795.1_Missense_Mutation_p.L1051I|BRCA1_ENST00000357654.3_Missense_Mutation_p.L1098I	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1098					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTCCAGGAAGACTTTGTTTA	0.353000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			7	90					5.18039e-06	5.31744e-06	1	1	0
SSTR1	6751	broad.mit.edu	37	14	38679227	38679227	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:38679227C>T	ENST00000267377.2	+	3	1250	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	211					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCAACATGCTCATGCCAGAGC	0.627000													12	39					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027082	37027082	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:37027082C>A	ENST00000358047.3	+	1	651	c.599C>A	c.(598-600)cCg>cAg	p.P200Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	200										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTCTCCCCCCGGAGCCTCCC	0.642000													17	79					5.01169e-05	5.1172e-05	1	1	0
FGF13	2258	broad.mit.edu	37	X	137717808	137717808	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:137717808G>A	ENST00000315930.6	-	4	1072	c.411C>T	c.(409-411)ttC>ttT	p.F137F	FGF13_ENST00000441825.2_Silent_p.F118F|FGF13_ENST00000370603.3_Silent_p.F147F|FGF13_ENST00000305414.4_Silent_p.F84F|FGF13_ENST00000541469.1_Silent_p.F91F	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	137					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ACTCAGGTGTGAAAAGTTCCT	0.358000													15	33					0	0	1	0	0
CERS4	79603	broad.mit.edu	37	19	8320588	8320588	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:8320588C>T	ENST00000558331.1	+	5	695	c.236C>T	c.(235-237)aCc>aTc	p.T79I	CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.T130I|CERS4_ENST00000559450.1_Missense_Mutation_p.T130I|CERS4_ENST00000251363.5_Missense_Mutation_p.T130I			Q9HA82	CERS4_HUMAN	ceramide synthase 4	130						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CCCCAGCTGACCAAGAAGTTC	0.667000													4	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569693	179569693	+	Splice_Site	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:179569693C>T	ENST00000589042.1	-	104	29829	c.29604_splice	c.e104-1	p.E9869_splice	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.E9552_splice|TTN_ENST00000342992.6_Splice_Site_p.E8625_splice|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9552	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCAATTTCCTGAGAAGAA	0.373000													19	77					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91229847	91229847	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:91229847G>A	ENST00000509176.1	+	2	700	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	CCSER1_ENST00000333691.8_Missense_Mutation_p.E138K|CCSER1_ENST00000432775.2_Missense_Mutation_p.E138K	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		TTTTGAAAGGGAAAAAGAGCA	0.368000													3	25					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2843464	2843464	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:2843464C>T	ENST00000380445.3	+	13	1287	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_Silent_p.F91F|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	405					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCGCCTCCTTCGGAAAGTGTT	0.622000													44	180					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649409	7649409	+	Splice_Site	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:7649409C>T	ENST00000359156.4	-	5	1301	c.1099_splice	c.e5+1	p.D367_splice	CD163_ENST00000396620.3_Splice_Site_p.D367_splice|CD163_ENST00000432237.2_Splice_Site_p.D367_splice|CD163_ENST00000541972.1_Splice_Site_p.D355_splice	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	367					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTAACTTACCAGAACATGTC	0.413000													8	36					0	0	1	0	0
DEFB129	140881	broad.mit.edu	37	20	210089	210089	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:210089G>A	ENST00000246105.4	+	2	260	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	77					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGTACTTAATGAAGACGTCCA	0.343000													10	60					0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47595161	47595161	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:47595161G>A	ENST00000533290.1	-	3	1667	c.953C>T	c.(952-954)tCc>tTc	p.S318F	NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Missense_Mutation_p.S293F|KBTBD4_ENST00000430070.2_Missense_Mutation_p.S309F|KBTBD4_ENST00000526005.1_Missense_Mutation_p.S293F			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	293										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CCGTGGGATGGACCCTCCCAC	0.577000													12	31					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912739	94912739	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:94912739C>T	ENST00000334708.3	-	3	910	c.846G>A	c.(844-846)ggG>ggA	p.G282G	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	282					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCTTCATTTTCCCCGGGTCAG	0.547000													28	57					0	0	1	0	0
TRAV25	28658	broad.mit.edu	37	14	22580965	22580965	+	RNA	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:22580965G>A	ENST00000390454.2	+	0	384																											ACAGATGTAGGAACCTACTTC	0.507000													3	9					0	0	1	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22434289	22434289	+	RNA	SNP	C	C	T	rs34835133	by1000genomes	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:22434289C>T	ENST00000390442.3	+	0	398																											GTGCAATGAGCGCACAGTGCT	0.498000													4	120					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156913742	156913742	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:156913742G>A	ENST00000368194.3	-	32	4259	c.3220C>T	c.(3220-3222)Cgc>Tgc	p.R1074C	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R1034C|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R450C	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1034	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACAGAGCGGATGAGCACA	0.612000													9	49					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501050	195501050	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:195501050G>A	ENST00000463781.3	-	4	13529	c.13070C>T	c.(13069-13071)tCc>tTc	p.S4357F	MUC4_ENST00000349607.4_Missense_Mutation_p.S70F|MUC4_ENST00000346145.4_Missense_Mutation_p.S121F|MUC4_ENST00000475231.1_Missense_Mutation_p.S4357F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1114					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACGTAGAGGGAATCACGGAG	0.652000													6	26					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045429	42045429	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:42045429G>A	ENST00000372584.1	-	3	6054	c.5040C>T	c.(5038-5040)tcC>tcT	p.S1680S	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Silent_p.S1680S|HIVEP3_ENST00000429157.2_Silent_p.S1680S|HIVEP3_ENST00000372583.1_Silent_p.S1680S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1680					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGCTTGCGGGAGCTGGATG	0.512000													22	42					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906800	42906800	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:42906800C>T	ENST00000422265.1	+	3	981	c.806C>T	c.(805-807)aCc>aTc	p.T269I	ACKR2_ENST00000273145.2_Missense_Mutation_p.T269I|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.T269I|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		TACAATCTCACCTTGTTTCTG	0.547000													28	158					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	657266	657266	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:657266G>A	ENST00000266383.5	+	8	797	c.784G>A	c.(784-786)Gca>Aca	p.A262T	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	262						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CGTGGAAGTTGCAGTGAGTTT	0.602000													5	16					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577368	9577368	+	Missense_Mutation	SNP	G	G	A	rs74178149		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:9577368G>A	ENST00000301480.4	-	10	2468	c.2255C>T	c.(2254-2256)tCc>tTc	p.S752F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACGTCCTGAGGATGTACGGAA	0.428000													22	66					0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70235600	70235600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:70235600C>T	ENST00000553521.1	+	5	1736	c.283C>T	c.(283-285)Cga>Tga	p.R95*	SRSF5_ENST00000394366.2_Nonsense_Mutation_p.R95*|SRSF5_ENST00000553635.1_Nonsense_Mutation_p.R92*|SRSF5_ENST00000553548.1_Nonsense_Mutation_p.R95*|SRSF5_ENST00000555349.1_Nonsense_Mutation_p.R95*|SRSF5_ENST00000554021.1_Nonsense_Mutation_p.R95*|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000557154.1_Nonsense_Mutation_p.R95*|SRSF5_ENST00000451983.2_Nonsense_Mutation_p.R95*			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	95					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						TCGCAGACCTCGAAATGATAG	0.453000													14	32					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41539149	41539149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr21:41539149C>T	ENST00000400454.1	-	16	3491	c.3014G>A	c.(3013-3015)tGg>tAg	p.W1005*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1005	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTTACCTTCCATGTGACCCT	0.493000													13	54					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795504	142795504	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:142795504C>T	ENST00000370498.1	-	2	927	c.174G>A	c.(172-174)agG>agA	p.R58R		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	58										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTATGCTTCCTGTAGTAAT	0.443000													68	127					0	0	1	0	0
MCTS1	28985	broad.mit.edu	37	X	119739363	119739363	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:119739363C>T	ENST00000371315.3	+	2	649	c.116C>T	c.(115-117)cCa>cTa	p.P39L	MCTS1_ENST00000371317.5_Missense_Mutation_p.P38L|MCTS1_ENST00000487133.1_3'UTR	NM_001137554.1	NP_001131026.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	38					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						GGTATTGAACCATGGCTTAAT	0.338000													29	154					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63084959	63084959	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:63084959C>T	ENST00000561311.1	+	45	6086	c.5856C>T	c.(5854-5856)atC>atT	p.I1952I	TLN2_ENST00000306829.6_Silent_p.I1952I			Q9Y4G6	TLN2_HUMAN	talin 2	1952					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGGAGCTGATCGAATGCGCCC	0.592000													11	41					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202305	248202305	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:248202305G>T	ENST00000366479.2	+	1	832	c.736G>T	c.(736-738)Gta>Tta	p.V246L	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCACCTCACTGTAGTGTCCTT	0.493000													18	98					2.48551e-13	2.60642e-13	1	1	0
SPATA4	132851	broad.mit.edu	37	4	177113929	177113929	+	Silent	SNP	A	A	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:177113929A>G	ENST00000515234.1	-	3	1613	c.18T>C	c.(16-18)gtT>gtC	p.V6V	SPATA4_ENST00000280191.2_Silent_p.V179V			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	179					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TAGACCTGGAAACCAGGGGTA	0.363000													9	31					0	0	1	0	0
GYG1	2992	broad.mit.edu	37	3	148714585	148714585	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:148714585C>A	ENST00000345003.4	+	4	675	c.375C>A	c.(373-375)gaC>gaA	p.D125E	GYG1_ENST00000484197.1_Missense_Mutation_p.D125E|GYG1_ENST00000483267.1_Missense_Mutation_p.D125E|GYG1_ENST00000296048.6_Missense_Mutation_p.D125E	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	125					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAGCACCAGACCCAGGGTGGC	0.438000													14	40					1.5842e-08	1.63912e-08	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20278860	20278860	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:20278860G>A	ENST00000245957.5	+	25	3328	c.3252G>A	c.(3250-3252)ggG>ggA	p.G1084G	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1084										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGAAAAATGGGACTTACTTCC	0.438000													23	49					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095608	130095608	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:130095608C>T	ENST00000265379.6	+	3	1090	c.596C>T	c.(595-597)tCc>tTc	p.S199F	COL6A5_ENST00000432398.2_Missense_Mutation_p.S199F			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	199	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGCACATTTTCCCAAAACATG	0.483000													20	46					0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85617559	85617559	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:85617559C>T	ENST00000315658.7	+	11	1373	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	ELMOD3_ENST00000490508.1_Intron|ELMOD3_ENST00000409013.3_Intron|ELMOD3_ENST00000409890.2_Intron|ELMOD3_ENST00000409344.3_Intron|ELMOD3_ENST00000393852.4_Intron	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	0					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TGCTAGTTCTCCTTTCTCTGC	0.458000													24	107					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108641797	108641797	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:108641797C>T	ENST00000218006.2	-	11	2547	c.2256G>A	c.(2254-2256)atG>atA	p.M752I		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	752	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCAGATCCATCATGCAGAATG	0.527000													17	60					0	0	1	0	0
DERL1	79139	broad.mit.edu	37	8	124054285	124054285	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr8:124054285G>A	ENST00000259512.4	-	1	378	c.78C>T	c.(76-78)ccC>ccT	p.P26P	DERL1_ENST00000405944.3_Silent_p.P26P|DERL1_ENST00000419562.2_Silent_p.P26P	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	26					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TGCCGACCAAGGGCACGGCGA	0.622000													17	29					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606042	84606042	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:84606042C>T	ENST00000344803.2	+	4	704	c.657C>T	c.(655-657)gaC>gaT	p.D219D		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CACTGAGGGACCCTCTGCCAC	0.557000													25	180					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233990554	233990554	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:233990554C>T	ENST00000359570.5	+	4	449	c.449C>T	c.(448-450)cCc>cTc	p.P150L	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.P150L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	150					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AACGAGAATCCCCGAGCGACC	0.592000													9	31					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496161	41496161	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr21:41496161G>A	ENST00000400454.1	-	20	4134	c.3657C>T	c.(3655-3657)atC>atT	p.I1219I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1219	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTACTTTCGGATGATGCCGT	0.572000													44	128					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106892049	106892049	+	Silent	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:106892049T>C	ENST00000286398.7	+	21	3202	c.2914T>C	c.(2914-2916)Ttg>Ctg	p.L972L	SMC2_ENST00000374787.3_Silent_p.L972L|SMC2_ENST00000303219.8_Silent_p.L972L|SMC2_ENST00000374793.3_Silent_p.L972L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	972					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ACTTCAGAAGTTGCAAGAAAT	0.383000													10	75					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329646	7329646	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:7329646C>A	ENST00000333870.3	+	3	410	c.336C>A	c.(334-336)ttC>ttA	p.F112L	C17orf74_ENST00000574034.1_Intron|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	112						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GCCACCATTTCTCCAACCATC	0.622000													50	104					2.17126e-26	2.30177e-26	1	1	0
ARID2	196528	broad.mit.edu	37	12	46285794	46285794	+	Splice_Site	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:46285794G>A	ENST00000334344.6	+	18	5234	c.5061_splice	c.e18-1	p.D1688_splice	ARID2_ENST00000444670.1_Splice_Site_p.D1298_splice|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Splice_Site_p.D1539_splice|ARID2_ENST00000457135.1_Splice_Site_p.D296_splice	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1688					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCTCAAAAAGGATAAGCACTG	0.383000			"""N, S, F"""		hepatocellular carcinoma								14	31					0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77158082	77158082	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:77158082G>A	ENST00000359019.4	+	1	715	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	ZDHHC17_ENST00000334822.5_Silent_p.A22A|ZDHHC17_ENST00000426126.2_Silent_p.A22A			Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	0					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATACCGAAGCGGGCTGTGTGC	0.647000													3	12					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56952654	56952654	+	Silent	SNP	A	A	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:56952654A>T	ENST00000504904.3	-	7	2429	c.1710T>A	c.(1708-1710)ctT>ctA	p.L570L	ZNF667_ENST00000342634.3_Silent_p.L698L|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.L570L			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GATGTCGAATAAGGTCTGAGC	0.413000													27	64					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81528669	81528669	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:81528669G>A	ENST00000548058.1	+	3	1441	c.531G>A	c.(529-531)atG>atA	p.M177I	ACSS3_ENST00000261206.3_Missense_Mutation_p.M176I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	177						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACATGCCTATGATCCCACAGG	0.458000													11	38					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31618509	31618509	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:31618509C>T	ENST00000225823.2	-	1	1497	c.625G>A	c.(625-627)Gac>Aac	p.D209N	ASIC2_ENST00000359872.6_Intron	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	158					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCCAGGCGGTCCATGAAGGCG	0.697000													24	29					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5352179	5352179	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:5352179G>A	ENST00000399537.4	-	27	8691	c.8343C>T	c.(8341-8343)ttC>ttT	p.F2781F	TNRC18_ENST00000430969.1_Silent_p.F2781F			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2781							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGGCTGGCAGGAAGGCGGCGA	0.701000													87	48					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25890625	25890625	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr8:25890625G>A	ENST00000520164.1	-	6	1064	c.527C>T	c.(526-528)cCa>cTa	p.P176L	EBF2_ENST00000408929.3_Missense_Mutation_p.P28L	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	176					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGGGTCCGATGGAGTCTCATT	0.388000													13	62					0	0	1	0	0
PAGE3	139793	broad.mit.edu	37	X	55289750	55289750	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:55289750G>A	ENST00000374951.1	-	3	435	c.127C>T	c.(127-129)Cca>Tca	p.P43S	PAGE3_ENST00000519203.1_Missense_Mutation_p.P43S					P antigen family, member 3 (prostate associated)											endometrium(1)|kidney(1)|lung(1)	3						TCAATTGGTGGTTCCTCTTGT	0.458000													7	26					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63721235	63721235	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:63721235T>A	ENST00000421025.1	+	4	459	c.190T>A	c.(190-192)Ttg>Atg	p.L64M	ZNF679_ENST00000255746.4_Missense_Mutation_p.L64M	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TAAGCCAGACTTGATCACCTG	0.358000													7	53					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38567631	38567631	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:38567631C>T	ENST00000423485.1	-	9	1198	c.1040G>A	c.(1039-1041)gGt>gAt	p.G347D		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	347					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGCAACACCACCCTTGTTCTT	0.368000													37	71					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170038070	170038070	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:170038070C>T	ENST00000263816.3	-	52	10342	c.10057G>A	c.(10057-10059)Gga>Aga	p.G3353R	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3353					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGTTGGTTCCATCCATGCCT	0.507000													21	48					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38884115	38884115	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:38884115C>A	ENST00000396821.3	-	12	1552	c.1453G>T	c.(1453-1455)Gaa>Taa	p.E485*	DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000381633.3_Nonsense_Mutation_p.E408*	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	406					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTGACATCTTCCACATCTTCC	0.488000													19	80					3.51602e-12	3.66724e-12	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308494	248308494	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:248308494G>A	ENST00000366476.1	+	1	45	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L15L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCATCCTCCTGGGAATCTTCA	0.443000													31	209					0	0	1	0	0
SOX8	30812	broad.mit.edu	37	16	1035010	1035010	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:1035010C>G	ENST00000293894.3	+	3	1080	c.965C>G	c.(964-966)cCg>cGg	p.P322R		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	322					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				AAGAGTGCCCCGTCGGCCTCC	0.776000													5	15					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820882	2820882	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr8:2820882C>T	ENST00000520002.1	-	61	9874	c.9319G>A	c.(9319-9321)Gga>Aga	p.G3107R	CSMD1_ENST00000537824.1_Missense_Mutation_p.G3106R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2930R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2929R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3107R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2930R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3107	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCACTGTTCCATTCTGCACC	0.557000													52	170					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69331224	69331224	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:69331224C>T	ENST00000260364.5	+	10	1646	c.1345C>T	c.(1345-1347)Cct>Tct	p.P449S	NOX5_ENST00000448182.3_Missense_Mutation_p.P421S|NOX5_ENST00000388866.3_Missense_Mutation_p.P467S|NOX5_ENST00000455873.3_Missense_Mutation_p.P432S|NOX5_ENST00000530406.2_Missense_Mutation_p.P439S|RP11-809H16.4_ENST00000559495.1_RNA			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	467	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAAGCGGCCCCCTTTTTTTCA	0.537000													22	119					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173343	51173343	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:51173343G>A	ENST00000440970.1	-	2	2930	c.2499C>T	c.(2497-2499)tcC>tcT	p.S833S	SALL1_ENST00000251020.4_Silent_p.S930S|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	930					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGTTGGACGGGGACAGAGCCT	0.557000													19	53					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621312	171621312	+	Missense_Mutation	SNP	C	C	T	rs114283307	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:171621312C>T	ENST00000037502.5	-	1	499	c.440G>A	c.(439-441)cGa>cAa	p.R147Q		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	147					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGACTTGTCTCGGAGGAGGTT	0.582000													7	159					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207530663	207530663	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:207530663C>T	ENST00000452335.2	-	10	1187	c.1071G>A	c.(1069-1071)agG>agA	p.R357R		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	357						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GTTTGTGAATCCTTGTTTCAA	0.408000													7	51					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341093	121341093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:121341093C>T	ENST00000338040.4	+	3	1231	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	273					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACAGGAAAATCAGAAGCAGCA	0.493000													14	39					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125562832	125562832	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:125562832C>T	ENST00000277309.2	+	1	463	c.431C>T	c.(430-432)gCc>gTc	p.A144V		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ATGTGCGCAGCCCTGGTGGGA	0.622000													4	53					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12638117	12638117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:12638117G>A	ENST00000339282.7	-	4	1001	c.805C>T	c.(805-807)Cga>Tga	p.R269*	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCATGTATTCGAAATAAACTG	0.388000													16	57					0	0	1	0	0
LCNL1	401562	broad.mit.edu	37	9	139879253	139879253	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:139879253G>A	ENST00000408973.2	+	3	879	c.285G>A	c.(283-285)cgG>cgA	p.R95R	LCNL1_ENST00000432827.1_Intron	NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	95							binding										GGGGCCTGCGGAACCAGTGGC	0.657000													3	9					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026422	61026422	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:61026422G>A	ENST00000335613.5	-	20	2979	c.2593C>T	c.(2593-2595)Cct>Tct	p.P865S	VWCE_ENST00000535710.1_Missense_Mutation_p.P330S	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	865	Pro-rich.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGTGGCTGAGGAGCCCCTGGG	0.667000													10	18					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140183149	140183149	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:140183149G>A	ENST00000522353.2	+	1	2367	c.2367G>A	c.(2365-2367)caG>caA	p.Q789Q	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.Q789Q|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAAACAGGATGTGGACG	0.453000													25	66					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115348828	115348828	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:115348828T>C	ENST00000369358.4	-	42	5367	c.5123A>G	c.(5122-5124)gAa>gGa	p.E1708G	NRAP_ENST00000360478.3_Missense_Mutation_p.E1665G|HABP2_ENST00000351270.3_3'UTR|NRAP_ENST00000369360.3_Missense_Mutation_p.E1673G|HABP2_ENST00000542051.1_3'UTR|NRAP_ENST00000359988.3_Missense_Mutation_p.E1700G			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1700						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTCCACTGCTTCTGCCCCCCG	0.562000													22	42					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920414	4920414	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:4920414G>A	ENST00000433855.1	+	1	2073	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	KCNA6_ENST00000280684.3_Missense_Mutation_p.D403N	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	403						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGACGATGACGATTCGCTTTT	0.572000										HNSCC(72;0.22)			7	84					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186018	127186018	+	Silent	SNP	G	G	A	rs141145093		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:127186018G>A	ENST00000371124.3	-	1	364	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	56						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTTGCCCCACGAAGTACTTCT	0.498000													32	164					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647083	78647083	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:78647083G>A	ENST00000286627.5	-	27	4430	c.3478C>T	c.(3478-3480)Cgg>Tgg	p.R1160W	KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1221W|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1218W|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1201W|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1160W|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1187W|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1218W|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1222W	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1218					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GACTTGGGCCGGTTCTGTCGG	0.577000													44	103					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3155369	3155369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:3155369C>T	ENST00000381075.2	+	14	1413	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*	PFKP_ENST00000381125.4_Nonsense_Mutation_p.Q405*	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	405					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCCGGATGATCAGATCCCAAA	0.597000													3	13					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018313	23018313	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:23018313C>T	ENST00000327968.5	+	1	227	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	47						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AGCAGGCTCCCGTGAACCACC	0.507000													33	61					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513472	4513472	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:4513472C>T	ENST00000301286.3	-	3	457	c.458G>A	c.(457-459)gGc>gAc	p.G153D		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	153	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTCCTTGGTGCCGGTGAGGAC	0.657000													16	69					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9523305	9523305	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:9523305G>A	ENST00000378429.3	-	10	2478	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	PAK7_ENST00000353224.5_Silent_p.F644F|PAK7_ENST00000378423.1_Silent_p.F644F	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	644	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGGCTCATTGAAGTAGGGGG	0.532000													21	103					0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55277523	55277523	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:55277523G>A	ENST00000358193.3	+	5	591	c.537G>A	c.(535-537)ctG>ctA	p.L179L	C1orf177_ENST00000371273.3_Silent_p.L179L	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	179										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACACCAAGCTGGAGGAGAATG	0.602000													14	33					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102339303	102339303	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:102339303C>T	ENST00000395065.3	-	3	419	c.318G>A	c.(316-318)ccG>ccA	p.P106P	NXF3_ENST00000425463.2_Silent_p.P17P|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	106						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AGGTCCCATCCGGCATGTTCC	0.473000													28	147					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755422	141755422	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:141755422C>T	ENST00000475668.2	+	28	3433	c.3379C>T	c.(3379-3381)Ccc>Tcc	p.P1127S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1127S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1127	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1127S(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACCCGCCTTCCCTCCAAGTA	0.512000													89	70					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60581804	60581804	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:60581804G>A	ENST00000252996.3	-	7	1984	c.1985C>T	c.(1984-1986)cCc>cTc	p.P662L	TAF4_ENST00000488539.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	662	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCTCAAGGCGGGTAAGCTCCT	0.597000													41	56					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184622871	184622871	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:184622871G>A	ENST00000334690.6	+	26	3075	c.2873G>A	c.(2872-2874)aGt>aAt	p.S958N	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S958N|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S564N	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	958																	ACTGGAGAGAGTGCTAGTGAA	0.373000													9	32					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183245373	183245373	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:183245373T>C	ENST00000511685.1	+	2	323	c.200T>C	c.(199-201)gTt>gCt	p.V67A	TENM3_ENST00000406950.2_Missense_Mutation_p.V67A					teneurin transmembrane protein 3																		AAGGATTTGGTTCACAGAGAA	0.468000													21	58					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033910	110033910	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:110033910C>T	ENST00000369870.3	+	10	1740	c.1725C>T	c.(1723-1725)tcC>tcT	p.S575S	ATXN7L2_ENST00000459635.1_3'UTR	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	575										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAAGTTATCCCCTGGCCCTA	0.597000													14	101					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95590883	95590883	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:95590883C>G	ENST00000526495.1	-	10	1317	c.1026G>C	c.(1024-1026)agG>agC	p.R342S	DICER1_ENST00000541352.1_Missense_Mutation_p.R342S|DICER1_ENST00000393063.1_Missense_Mutation_p.R342S|DICER1_ENST00000527414.1_Missense_Mutation_p.R342S|DICER1_ENST00000343455.3_Missense_Mutation_p.R342S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	342	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ATAAAAATTTCCTGTGCAGCT	0.403000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				29	36					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44828153	44828153	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr20:44828153G>A	ENST00000372262.3	-	7	1732	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	CDH22_ENST00000537909.1_Silent_p.I444I	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	444	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGTCCGCATCGATATCGAAGA	0.632000													11	20					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073027	17073027	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:17073027C>T	ENST00000359963.3	-	1	673	c.414G>A	c.(412-414)acG>acA	p.T138T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	138					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGCAGTGGCCGTGGCGTAGG	0.637000													3	71					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198369	15198369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:15198369C>T	ENST00000209540.2	+	1	579	c.493C>T	c.(493-495)Caa>Taa	p.Q165*		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCTCATGGCTCAACTGACCTT	0.562000													9	69					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944261	121944261	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:121944261G>A	ENST00000442488.2	-	1	298	c.231C>T	c.(229-231)ttC>ttT	p.F77F	FEZF1_ENST00000427185.2_Silent_p.F77F|FEZF1_ENST00000331178.4_Silent_p.F77F|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	77					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CCACAGGCACGAAGGGGATCA	0.687000													62	43					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164764748	164764748	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:164764748T>C	ENST00000264382.3	-	16	1830	c.1768A>G	c.(1768-1770)Aca>Gca	p.T590A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	590	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCAGCAAATGTTGAGCGGGTA	0.343000										HNSCC(35;0.089)			13	47					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877801	150877801	+	Silent	SNP	C	C	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:150877801C>A	ENST00000474524.1	+	7	1058	c.1020C>A	c.(1018-1020)ggC>ggA	p.G340G	MED12L_ENST00000422248.2_Silent_p.G340G|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Silent_p.G340G	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	340					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGGCCCTGGCATGAGCCCCG	0.587000													28	158					1.16021e-09	1.20364e-09	1	1	0
BMP6	654	broad.mit.edu	37	6	7861751	7861751	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:7861751G>A	ENST00000283147.6	+	3	1084	c.925G>A	c.(925-927)Gac>Aac	p.D309N		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	309					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCTGGAATTTGACATCACGGC	0.483000													51	98					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209108282	209108282	+	Silent	SNP	A	A	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:209108282A>G	ENST00000415913.1	-	6	948	c.567T>C	c.(565-567)atT>atC	p.I189I	IDH1_ENST00000345146.2_Silent_p.I189I|IDH1_ENST00000446179.1_Silent_p.I189I			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	189					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CAAAATCTTCAATTGACTTAT	0.408000			Mis		gliobastoma								12	51					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47280893	47280893	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:47280893G>A	ENST00000271153.4	+	8	1063	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	CYP4B1_ENST00000452782.2_Missense_Mutation_p.E181K|CYP4B1_ENST00000371923.4_Missense_Mutation_p.E344K|CYP4B1_ENST00000371919.4_Missense_Mutation_p.E329K			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	343					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TCGTTGTAGAGAGGAGGTCCG	0.577000													4	39					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79936966	79936966	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:79936966G>A	ENST00000373275.4	-	40	4744	c.4528C>T	c.(4528-4530)Cta>Tta	p.L1510L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1510										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCATCAAGTAGATATAGTGAA	0.383000													25	80					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47541477	47541477	+	Missense_Mutation	SNP	G	G	A	rs61735828	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr21:47541477G>A	ENST00000300527.4	+	18	1570	c.1466G>A	c.(1465-1467)cGg>cAg	p.R489Q	COL6A2_ENST00000409416.1_Missense_Mutation_p.R489Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.R489Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.R489Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.R489Q	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	489	Triple-helical region.		R -> Q.		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGGATCTCGGGGAGACCCC	0.652000													10	67					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49943973	49943973	+	Silent	SNP	A	A	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:49943973A>G	ENST00000257981.6	+	10	2039	c.1779A>G	c.(1777-1779)gcA>gcG	p.A593A		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	593					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCCTGCGGGCACTGTCTCTGG	0.677000													11	42					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735171	41735171	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:41735171G>A	ENST00000352645.4	+	9	1049	c.792G>A	c.(790-792)gaG>gaA	p.E264E	ZC3H7B_ENST00000351589.4_Silent_p.E264E	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	280					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTGGCCCAGAGCTGGACACCC	0.657000													16	78					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				49	45					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121437283	121437283	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:121437283G>A	ENST00000393667.3	-	8	947	c.837C>T	c.(835-837)gtC>gtT	p.V279V	GOLGB1_ENST00000340645.5_Silent_p.V274V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	274					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCAAGTCAACGACCTGAGCAC	0.458000													15	66					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122774171	122774171	+	Silent	SNP	G	G	A	rs140478463		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:122774171G>A	ENST00000264499.4	-	8	972	c.789C>T	c.(787-789)gaC>gaT	p.D263D	BBS7_ENST00000506636.1_Silent_p.D263D	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	263					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCACCATTCCGTCATCTCTCC	0.323000									Bardet-Biedl syndrome				3	32					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577448	14577448	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:14577448C>T	ENST00000544627.1	+	2	943	c.623C>T	c.(622-624)tCc>tTc	p.S208F	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S200F|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S200F|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S200F|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S200F			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	200					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GATGATCTCTCCTCTGGTGAT	0.542000													14	99					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137911	63137911	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:63137911C>A	ENST00000279178.3	+	1	632	c.383C>A	c.(382-384)tCa>tAa	p.S128*	SLC22A9_ENST00000310969.4_Nonsense_Mutation_p.S128*	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	128					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATCTCCTTCTCATCCACCATC	0.498000													13	59					0.000151284	0.000154064	1	1	0
GRIA2	2891	broad.mit.edu	37	4	158256974	158256974	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:158256974C>A	ENST00000296526.7	+	10	1743	c.1418C>A	c.(1417-1419)gCc>gAc	p.A473D	GRIA2_ENST00000449365.1_Missense_Mutation_p.A426D|GRIA2_ENST00000507898.1_Missense_Mutation_p.A426D|GRIA2_ENST00000264426.9_Missense_Mutation_p.A473D|GRIA2_ENST00000393815.2_Missense_Mutation_p.A426D	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	473					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAGTATGGGGCCAGGGATGCA	0.438000													13	21					0.0242445	0.0243701	1	1	0
FBXO40	51725	broad.mit.edu	37	3	121340543	121340543	+	Silent	SNP	C	C	T	rs143763862	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:121340543C>T	ENST00000338040.4	+	3	681	c.267C>T	c.(265-267)ccC>ccT	p.P89P		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	89					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGGTGTGCCCCGCCAGCGTGG	0.577000													14	63					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375371	113375371	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:113375371G>A	ENST00000316407.4	-	7	5568	c.5158C>T	c.(5158-5160)Cgt>Tgt	p.R1720C	KIAA2018_ENST00000478658.1_Missense_Mutation_p.R1720C|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1720					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGGTCCACACGACCCTGCATA	0.423000													17	95					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76892609	76892609	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:76892609G>A	ENST00000409709.3	+	23	3150	c.2878G>A	c.(2878-2880)Gag>Aag	p.E960K	MYO7A_ENST00000409619.2_Missense_Mutation_p.E949K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E960K|MYO7A_ENST00000409893.1_Missense_Mutation_p.E960K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	960					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAGGCCAGGAGGGCCAGGC	0.607000													4	29					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157465	154157465	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:154157465G>A	ENST00000360256.4	-	14	4800	c.4600C>T	c.(4600-4602)Cct>Tct	p.P1534S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1534	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGATGGCCAGGAGACCCATTG	0.468000													69	132					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678171	66678171	+	Splice_Site	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr18:66678171G>A	ENST00000360242.5	+	7	1381	c.1263_splice	c.e7-1	p.E422_splice	CCDC102B_ENST00000319445.6_Splice_Site_p.E422_splice|CCDC102B_ENST00000584156.1_Splice_Site_p.E422_splice	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	422										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCTTTGAAAGGAATTACTGAA	0.318000													4	20					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8239073	8239073	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr8:8239073G>A	ENST00000520004.1	-	2	449	c.185C>T	c.(184-186)cCc>cTc	p.P62L	SGK223_ENST00000330777.4_Missense_Mutation_p.P62L			Q86YV5	SG223_HUMAN		62							ATP binding|non-membrane spanning protein tyrosine kinase activity										CTCAGGCCTGGGAGGCAGGCG	0.657000													21	44					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041163	47041163	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:47041163C>T	ENST00000450053.3	+	26	3926	c.3747C>T	c.(3745-3747)tcC>tcT	p.S1249S	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1249	Leu-rich.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TACAGCTGTCCCTCCAGGCTG	0.612000													7	22					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130271285	130271285	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:130271285G>A	ENST00000373312.3	-	10	1500	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.F416F	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	429							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCGCTGCTTGAACACGGACG	0.637000													11	36					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54212234	54212234	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:54212234T>C	ENST00000259782.4	+	6	914	c.818T>C	c.(817-819)tTg>tCg	p.L273S		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	273					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CCTCAGAATTTGATCTCTTGC	0.438000													18	22					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001446	11001446	+	Silent	SNP	G	G	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:11001446G>C	ENST00000324288.8	+	11	2230	c.2097G>C	c.(2095-2097)ccG>ccC	p.P699P	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	699	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AACACCCACCGCGGGCCGCAG	0.627000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								21	77					0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10471643	10471643	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr18:10471643A>T	ENST00000355285.4	+	3	713	c.359A>T	c.(358-360)tAt>tTt	p.Y120F	APCDD1_ENST00000578882.1_Missense_Mutation_p.Y120F	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	120					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		AATCCCACTTATACTCTCATC	0.542000													12	66					0	0	1	0	0
RNASE13	440163	broad.mit.edu	37	14	21501984	21501984	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:21501984C>T	ENST00000382951.3	-	2	601	c.464G>A	c.(463-465)gGa>gAa	p.G155E	RP11-998D10.1_ENST00000531638.1_Missense_Mutation_p.S107F|NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	155						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GAATTAAATTCCCGAATAGAG	0.488000													33	64					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32404489	32404489	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:32404489G>A	ENST00000357033.4	-	33	4818	c.4612C>T	c.(4612-4614)Ccc>Tcc	p.P1538S	DMD_ENST00000378677.2_Missense_Mutation_p.P1534S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1538	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTTCTTTGGGATTTTCCGTC	0.393000													23	151					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8377323	8377323	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:8377323C>T	ENST00000538603.1	-	4	664	c.106G>A	c.(106-108)Gat>Aat	p.D36N	FAM90A1_ENST00000307435.6_Missense_Mutation_p.D36N	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	36							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCTTCTTCATCGGGCGGGGGA	0.657000													4	15					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456847	25456847	+	RNA	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:25456847G>A	ENST00000424208.1	+	0	2478				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CTGAAGCTCAGGCCCTTCCTG	0.622000													12	69					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330300	125330300	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:125330300G>A	ENST00000304865.2	-	1	538	c.457C>T	c.(457-459)Cct>Tct	p.P153S		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGAGGTGAGGAAATGAGCAG	0.547000													12	61					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188781	70188781	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:70188781G>A	ENST00000320256.4	-	1	616	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	14					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TCACTCTGCAGAGCCTTTTTG	0.667000													45	150					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117739654	117739654	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:117739654G>A	ENST00000368508.3	-	2	337	c.139C>T	c.(139-141)Ctt>Ttt	p.L47F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.L47F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	47					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTGTGCCAAGGTCAAGCTGC	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								9	16					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115142972	115142972	+	Splice_Site	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:115142972G>A	ENST00000393274.1	-	15	2583	c.1956_splice	c.e15-1	p.S653_splice	DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000393276.3_Splice_Site_p.S596_splice|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	653	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTTCAATGGACTGAAATGC	0.413000													21	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640507	179640507	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:179640507C>T	ENST00000589042.1	-	28	6308	c.6084G>A	c.(6082-6084)gaG>gaA	p.E2028E	TTN_ENST00000360870.5_Silent_p.E2028E|TTN_ENST00000591111.1_Silent_p.E2028E|TTN_ENST00000342992.6_Silent_p.E2028E|TTN_ENST00000460472.2_Silent_p.E1982E|TTN_ENST00000359218.5_Silent_p.E1982E|TTN_ENST00000342175.6_Silent_p.E1982E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1790							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGGAGTTCCTCATAGGATT	0.448000													32	86					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	47000033	47000033	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:47000033G>A	ENST00000374314.4	+	1	2108	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	GPRIN2_ENST00000374317.1_Missense_Mutation_p.D385N			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	385										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGTGCGATGGGATGCTGAGGG	0.632000													11	72					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323671	31323671	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr18:31323671G>A	ENST00000269197.5	+	12	3859	c.3859G>A	c.(3859-3861)Gga>Aga	p.G1287R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1287	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACCATCCAGGGAACTGACAC	0.408000													10	54					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077821	79077821	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:79077821C>T	ENST00000321300.6	+	9	1072	c.979C>T	c.(979-981)Ccg>Tcg	p.P327S	BAIAP2_ENST00000428708.2_Missense_Mutation_p.P327S|BAIAP2_ENST00000392411.3_Missense_Mutation_p.P249S|BAIAP2_ENST00000575712.1_Missense_Mutation_p.P327S|BAIAP2_ENST00000416299.2_Missense_Mutation_p.P190S|BAIAP2_ENST00000321280.7_Missense_Mutation_p.P327S|BAIAP2_ENST00000575245.1_Missense_Mutation_p.P360S|BAIAP2_ENST00000435091.3_Missense_Mutation_p.P327S	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	327					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTGTCTCCTCCGCAGTCTCA	0.622000													45	63					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55780157	55780157	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:55780157C>A	ENST00000373965.2	-	21	2961	c.2567G>T	c.(2566-2568)gGa>gTa	p.G856V	PCDH15_ENST00000395430.1_Missense_Mutation_p.G849V|PCDH15_ENST00000395438.1_Missense_Mutation_p.G849V|PCDH15_ENST00000361849.3_Missense_Mutation_p.G849V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.G849V|PCDH15_ENST00000320301.6_Missense_Mutation_p.G849V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G856V|PCDH15_ENST00000409834.1_Missense_Mutation_p.G460V|PCDH15_ENST00000437009.1_Missense_Mutation_p.G778V|PCDH15_ENST00000414778.1_Missense_Mutation_p.G854V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G812V|PCDH15_ENST00000395433.1_Missense_Mutation_p.G827V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	849	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACATTTGCTCCAAGGTCGAC	0.383000										HNSCC(58;0.16)			34	102					3.76114e-14	3.96555e-14	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31323740	31323740	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr18:31323740G>A	ENST00000269197.5	+	12	3928	c.3928G>A	c.(3928-3930)Gag>Aag	p.E1310K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1310	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGCCACTACAGAGGGCTCCAG	0.423000													12	141					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39813792	39813792	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:39813792C>T	ENST00000216160.6	+	5	550	c.488C>T	c.(487-489)tCg>tTg	p.S163L	TAB1_ENST00000331454.3_Missense_Mutation_p.S163L	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	163	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGGGAAATTTCGGGAGGGGCC	0.582000													25	46					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101876615	101876615	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:101876615C>T	ENST00000551346.1	+	5	415	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	SPIC_ENST00000299272.5_Silent_p.L86L			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						TCATCAATCTCTGCAGAACAT	0.403000													34	115					0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51506485	51506485	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:51506485C>T	ENST00000376832.4	-	5	668	c.635G>A	c.(634-636)gGa>gAa	p.G212E	KLK9_ENST00000594211.1_Missense_Mutation_p.G212E|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000250366.6_Missense_Mutation_p.G212E	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	212	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGCCAAGGTTCCATTGCAAAC	0.607000													20	55					0	0	1	0	0
SMG9	56006	broad.mit.edu	37	19	44252033	44252033	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:44252033G>C	ENST00000601170.1	-	4	556	c.242C>G	c.(241-243)cCt>cGt	p.P81R	SMG9_ENST00000270066.6_Missense_Mutation_p.P81R			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	81	Pro-rich.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						GGCTGTTGGAGGTGGTGGCTG	0.617000													17	70					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75266095	75266095	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:75266095C>T	ENST00000325680.7	+	5	4219	c.4095C>T	c.(4093-4095)ttC>ttT	p.F1365F	YLPM1_ENST00000238571.3_Silent_p.F1170F|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATCGAGATTTCCGTGATAGGG	0.478000													45	113					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898676	130898676	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:130898676G>A	ENST00000261655.4	-	14	2809	c.2646C>T	c.(2644-2646)atC>atT	p.I882I		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	882	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCACCTTGATGATCTGGCCTT	0.597000													28	71					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528830	20528830	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:20528830C>T	ENST00000315683.1	+	1	627	c.627C>T	c.(625-627)acC>acT	p.T209T		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCTCTTTCACCTGTTTCATCC	0.448000													25	58					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488436	108488436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:108488436C>T	ENST00000408999.3	+	20	4053	c.3976C>T	c.(3976-3978)Caa>Taa	p.Q1326*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.Q1326*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1326					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGATGTTACTCAAGAAGAAGA	0.388000													36	143					0	0	1	0	0
DYDC1	143241	broad.mit.edu	37	10	82098285	82098285	+	Missense_Mutation	SNP	C	C	T	rs140462481	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:82098285C>T	ENST00000421924.2	-	6	853	c.442G>A	c.(442-444)Gat>Aat	p.D148N	DYDC1_ENST00000372204.3_Missense_Mutation_p.D148N|DYDC1_ENST00000372202.1_Missense_Mutation_p.D148N			Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	148										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			CCATAACGATCGCTGATTTCA	0.333000													20	47					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30961109	30961109	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:30961109G>A	ENST00000295055.8	-	17	1821	c.1645C>T	c.(1645-1647)Ctg>Ttg	p.L549L	CAPN13_ENST00000534090.2_Silent_p.L549L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	549	EF-hand 1.				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)					ACTTCCATCAGAGCCACCAAG	0.557000													12	32					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77258649	77258649	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:77258649G>A	ENST00000341514.6	+	6	1778	c.1623G>A	c.(1621-1623)atG>atA	p.M541I	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.M541I	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	541	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AACCCCCAATGATAGCAGAGT	0.393000													54	154					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21975288	21975288	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:21975288G>A	ENST00000382254.1	-	6	1524	c.438C>T	c.(436-438)ttC>ttT	p.F146F	CDH12_ENST00000522262.1_Silent_p.F146F|CDH12_ENST00000504376.2_Silent_p.F146F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	146	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F146L(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTTTGATGATGAATTCTGATT	0.433000										HNSCC(59;0.17)			17	81					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117068875	117068875	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:117068875C>T	ENST00000356083.3	+	58	5405	c.5014C>T	c.(5014-5016)Ctc>Ttc	p.L1672F		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1672	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCTCAGCAACCTCATCCAGAG	0.552000											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	54					0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137785178	137785178	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:137785178C>T	ENST00000315930.6	-	3	1031	c.370G>A	c.(370-372)Gca>Aca	p.A124T	FGF13_ENST00000441825.2_Missense_Mutation_p.A105T|FGF13_ENST00000370603.3_Missense_Mutation_p.A134T|FGF13_ENST00000305414.4_Missense_Mutation_p.A71T|FGF13_ENST00000541469.1_Missense_Mutation_p.A78T	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	124					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTGTTCATTGCCAAGTACAGC	0.398000													15	48					0	0	1	0	0
SSNA1	8636	broad.mit.edu	37	9	140083669	140083669	+	Silent	SNP	C	C	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:140083669C>A	ENST00000322310.5	+	2	284	c.204C>A	c.(202-204)cgC>cgA	p.R68R	SSNA1_ENST00000459860.1_3'UTR	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	68					G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus				breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		TTGCCTCTCGCAACGAGTTCG	0.647000													3	47					1	1	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50052771	50052771	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:50052771G>A	ENST00000376042.1	+	6	1900	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.K534K			Q8WWL7	CCNB3_HUMAN	cyclin B3	534					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGTCTTTAAAGAAAAAGTGTA	0.383000													12	31					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588526	153588526	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:153588526C>T	ENST00000422373.1	-	22	3885	c.3637G>A	c.(3637-3639)Ggt>Agt	p.G1213S	FLNA_ENST00000360319.4_Missense_Mutation_p.G1213S|FLNA_ENST00000344736.4_Missense_Mutation_p.G1213S|FLNA_ENST00000369850.3_Missense_Mutation_p.G1213S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1213					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGCCATCACCGTGGTCCTGG	0.642000													25	111					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10251809	10251809	+	Silent	SNP	A	A	G			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:10251809A>G	ENST00000340748.4	-	30	3553	c.3318T>C	c.(3316-3318)ccT>ccC	p.P1106P	DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000359526.4_Silent_p.P1122P|DNMT1_ENST00000540357.1_Silent_p.P1106P			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1106					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTTTGTTTCCAGGGCTACGGG	0.463000													25	102					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30495205	30495205	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:30495205C>T	ENST00000356798.6	+	8	960	c.780C>T	c.(778-780)atC>atT	p.I260I	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.I177I|ITGAL_ENST00000454514.2_3'UTR|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	260	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AAGTGCTTATCATCATCACGG	0.587000													40	182					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72081809	72081809	+	RNA	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:72081809T>C	ENST00000438125.1	-	0	1246							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GAACTTTCTCTGCAGTAGGTA	0.498000													9	134					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203194942	203194942	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:203194942C>T	ENST00000367229.1	-	3	146	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CHIT1_ENST00000535569.1_Missense_Mutation_p.E48K|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.E38K	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	38					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						AAGCGAGCCTCCCCCTGTCTG	0.587000													6	66					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	182993136	182993136	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:182993136G>A	ENST00000258341.4	+	1	542	c.285G>A	c.(283-285)ggG>ggA	p.G95G		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	95	Laminin N-terminal.				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)	GCGACGCCGGGCAGCCCCACC	0.662000											OREG0014040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	30					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571019	155571019	+	Silent	SNP	A	A	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:155571019A>T	ENST00000392845.2	-	1	1148	c.768T>A	c.(766-768)acT>acA	p.T256T	SLC33A1_ENST00000359479.3_Silent_p.T256T|SLC33A1_ENST00000460729.1_5'UTR	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	256					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACCTGAAAGAGTAACGATTC	0.388000													6	38					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408573	10408573	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:10408573C>T	ENST00000226207.5	-	21	2436	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	781	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTCATCTCGCATCTCCTC	0.463000													32	43					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13232795	13232795	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:13232795C>T	ENST00000197268.8	+	12	1835	c.1715C>T	c.(1714-1716)cCa>cTa	p.P572L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	572						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GAAGGCCATCCAGCAGCCCTG	0.537000													7	45					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153664162	153664162	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:153664162G>A	ENST00000369762.2	+	10	1399	c.1338G>A	c.(1336-1338)atG>atA	p.M446I		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	446					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCTGCACATGATCCTCAGCC	0.572000													71	341					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018425	1018425	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:1018425C>T	ENST00000398484.2	+	7	1625	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	FGFRL1_ENST00000264748.6_Missense_Mutation_p.R349C|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R349C|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R349C			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	349	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.R349C(1)|p.R319C(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTACAGCTTCCGCAGCGCCTT	0.692000													14	63					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905123	55905123	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:55905123C>T	ENST00000301529.1	-	1	71	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGAGGGGAATCTGGAGCTCTG	0.493000													38	79					0	0	1	0	0
RP1-241P17.4	0	broad.mit.edu	37	X	114953322	114953322	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:114953322C>T	ENST00000449327.1	-	1	347	c.228G>A	c.(226-228)ttG>ttA	p.L76L																								CCTCCATTTCCAACTGTGCAG	0.448000													38	69					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214190	3214190	+	RNA	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:3214190C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							CTCCAGTGTTCATCTCAATGG	0.537000													76	73					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724354	38724354	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:38724354C>T	ENST00000342213.2	-	1	1220	c.874G>A	c.(874-876)Gga>Aga	p.G292R		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	292						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GTCGGCTGTCCTTCCCCACTG	0.667000													32	61					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36934795	36934795	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:36934795C>T	ENST00000373103.1	-	12	2085	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	CSF3R_ENST00000361632.4_Missense_Mutation_p.G513E|CSF3R_ENST00000331941.5_Missense_Mutation_p.G513E|CSF3R_ENST00000418048.2_Missense_Mutation_p.G513E|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.G513E|CSF3R_ENST00000373104.1_Missense_Mutation_p.G513E|CSF3R_ENST00000373106.1_Missense_Mutation_p.G513E|CSF3R_ENST00000440588.2_Missense_Mutation_p.G513E	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	513	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTGGGAGGGTCCCATGGTGTC	0.517000													10	31					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813451	24813451	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:24813451C>T	ENST00000376451.2	+	8	1965	c.1705C>T	c.(1705-1707)Cac>Tac	p.H569Y	KIAA1217_ENST00000458595.1_Missense_Mutation_p.H851Y|KIAA1217_ENST00000376462.1_Missense_Mutation_p.H806Y|KIAA1217_ENST00000396445.1_Missense_Mutation_p.H569Y|KIAA1217_ENST00000307544.6_Missense_Mutation_p.H569Y|KIAA1217_ENST00000376454.3_Missense_Mutation_p.H886Y|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396446.1_Missense_Mutation_p.H569Y|KIAA1217_ENST00000376452.3_Missense_Mutation_p.H851Y			Q5T5P2	SKT_HUMAN	KIAA1217	886					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GATGGTTCGCCACGCGCAGAG	0.667000													14	32					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45226304	45226304	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr11:45226304G>A	ENST00000263765.4	+	6	880	c.631G>A	c.(631-633)Gac>Aac	p.D211N	PRDM11_ENST00000530656.1_Missense_Mutation_p.D211N|PRDM11_ENST00000424263.2_Missense_Mutation_p.D177N|PRDM11_ENST00000528980.1_3'UTR			Q9NQV5	PRD11_HUMAN	PR domain containing 11	211	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGATGGCTCAGACGAGACCAA	0.537000													12	49					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	37					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027536	37027536	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:37027536G>A	ENST00000358047.3	+	1	1105	c.1053G>A	c.(1051-1053)gtG>gtA	p.V351V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	351										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACTGGAGTGTCCCATCTCT	0.632000													24	171					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834234	125834234	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:125834234A>T	ENST00000299308.3	+	2	297	c.289A>T	c.(289-291)Atc>Ttc	p.I97F	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	97						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGAGAAGATAATCCCCCAGGA	0.498000													35	91					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651295	96651295	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr6:96651295C>T	ENST00000302103.5	+	3	590	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	88					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGTTCAACATCCAAGGATGCC	0.448000													25	37					0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31074856	31074856	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr14:31074856C>T	ENST00000206595.6	+	11	1310	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Missense_Mutation_p.P416S|G2E3_ENST00000438909.2_Missense_Mutation_p.P340S	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	386	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAACTTTAATCCTTCATATGC	0.308000													6	15					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2933228	2933228	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:2933228C>T	ENST00000381130.2	+	4	558	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	186						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTCCCAAGTTCGCCCGCTGGT	0.507000													14	16					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38869150	38869150	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:38869150G>A	ENST00000274276.3	+	2	406	c.4G>A	c.(4-6)Gct>Act	p.A2T	OSMR_ENST00000502536.1_Missense_Mutation_p.A2T	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	2					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AGAACTGATGGCTCTATTTGC	0.343000													29	57					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115898360	115898360	+	Missense_Mutation	SNP	C	C	T	rs145141232	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:115898360C>T	ENST00000264363.2	-	3	1727	c.1049G>A	c.(1048-1050)gGg>gAg	p.G350E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	350	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTAAAACTTCCCTGAAAATCC	0.333000													17	65					0	0	1	0	0
LOC202181	202181	broad.mit.edu	37	5	177059489	177059489	+	RNA	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr5:177059489C>T	ENST00000515045.1	-	0	439					NR_026921.1																						TCTACAGGATCACTGTTAATG	0.512000													37	113					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162463840	162463840	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:162463840G>A	ENST00000306100.5	-	9	1457	c.1021C>T	c.(1021-1023)Cca>Tca	p.P341S	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.P340S|FSTL5_ENST00000427802.2_Missense_Mutation_p.P340S|FSTL5_ENST00000536695.1_Missense_Mutation_p.P340S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	341	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CGGATGACTGGAGGAACTAAA	0.388000													13	56					0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80963040	80963040	+	Missense_Mutation	SNP	C	C	T	rs142855993	byFrequency	TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr17:80963040C>T	ENST00000576599.1	-	6	872	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	B3GNTL1_ENST00000320865.3_Missense_Mutation_p.R152Q|B3GNTL1_ENST00000571954.1_5'UTR			Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	152							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ACGTGTGTATCGTTCGGTGGA	0.572000													32	48					0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40823923	40823923	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr21:40823923C>T	ENST00000333634.4	+	1	168	c.90C>T	c.(88-90)ccC>ccT	p.P30P	SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000458295.1_Intron	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	30					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CTGCCAGCCCCGACCTGGCAC	0.607000													34	71					0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55028767	55028767	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:55028767G>A	ENST00000374987.3	+	3	391	c.325G>A	c.(325-327)Gat>Aat	p.D109N	APEX2_ENST00000471758.1_Intron	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	109					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CCAGAATGGGGATGTTGGTTG	0.552000								Other BER factors					25	85					0	0	1	0	0
ARX	170302	broad.mit.edu	37	X	25031088	25031088	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:25031088C>T	ENST00000379044.4	-	2	1234	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	342						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CGCTCCAGTTCCTCCAGCTGG	0.667000													6	16					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43711659	43711659	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr21:43711659C>T	ENST00000398437.1	+	14	2168	c.2020C>T	c.(2020-2022)Ccg>Tcg	p.P674S	ABCG1_ENST00000361802.2_Missense_Mutation_p.P528S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.P518S|ABCG1_ENST00000340588.4_Missense_Mutation_p.P636S|ABCG1_ENST00000398449.3_Missense_Mutation_p.P516S|ABCG1_ENST00000343687.3_Missense_Mutation_p.P527S|ABCG1_ENST00000347800.2_Missense_Mutation_p.P513S			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	528					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GACGTCGCAGCCGTCCGACGC	0.652000													9	117					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446269	10446269	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr4:10446269G>A	ENST00000326756.3	-	3	2122	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACTTTTACAGGAATATTGACT	0.423000													15	41					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719024	48719024	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:48719024G>A	ENST00000294129.2	-	5	907	c.788C>T	c.(787-789)tCc>tTc	p.S263F	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.S263F|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.S256F	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	263	Pro-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGATGCCTTGGAGGGAGGGGG	0.637000													14	73					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763773	82763773	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr7:82763773C>T	ENST00000423517.2	-	3	3430	c.3093G>A	c.(3091-3093)aaG>aaA	p.K1031K	PCLO_ENST00000333891.8_Silent_p.K1031K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	977					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTGCTATCCTTAATAGGTG	0.433000													26	15					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143212502	143212502	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:143212502C>T	ENST00000316549.6	-	11	1516	c.1308G>A	c.(1306-1308)atG>atA	p.M436I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	436					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TACCTGAAAACATCATCATGT	0.403000													12	66					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658898	50658898	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:50658898G>A	ENST00000439308.2	-	16	4382	c.3890C>T	c.(3889-3891)cCc>cTc	p.P1297L	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.P1297L|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1297					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGCCAGGGGGGCTCTGTTG	0.657000													4	25					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31333580	31333580	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:31333580G>A	ENST00000215862.4	-	16	2665	c.1302C>T	c.(1300-1302)acC>acT	p.T434T	MORC2_ENST00000397641.2_Silent_p.T496T|MORC2_ENST00000469915.1_Intron	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	496							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CGCACTGGATGGTGGTGGGGA	0.557000													20	71					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25967044	25967044	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr15:25967044T>C	ENST00000356865.6	-	7	1234	c.1123A>G	c.(1123-1125)Att>Gtt	p.I375V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	375					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TATAAGGAAATTGGGATCAAA	0.413000													19	47					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118217042	118217042	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chrX:118217042G>A	ENST00000402510.2	-	13	4889	c.4890C>T	c.(4888-4890)ttC>ttT	p.F1630F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1630										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CACTGGAAGTGAACATCTTTT	0.388000													28	61					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182853632	182853632	+	Silent	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:182853632C>T	ENST00000265598.3	-	5	1245	c.990G>A	c.(988-990)caG>caA	p.Q330Q	LAMP3_ENST00000466939.1_Silent_p.Q306Q	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	330					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CGACTGCTGTCTGGAACATCA	0.493000													95	253					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211512710	211512710	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:211512710C>T	ENST00000233072.5	+	26	3461	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	CPS1_ENST00000430249.2_Missense_Mutation_p.R1095C|CPS1_ENST00000451903.2_Missense_Mutation_p.R638C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1089					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGCTGAGGATCGCTCCATCTT	0.488000													21	75					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922212	159922212	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:159922212G>A	ENST00000368093.3	-	3	620	c.504C>T	c.(502-504)agC>agT	p.S168S	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	168	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGAGAGCCAGCTGTAGGTCA	0.577000													40	106					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55085369	55085369	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr19:55085369G>A	ENST00000396321.2	+	1	24	c.24G>A	c.(22-24)ctG>ctA	p.L8L	LILRA2_ENST00000251376.3_Silent_p.L8L|LILRA2_ENST00000251377.3_Silent_p.L8L|LILRB1_ENST00000418536.2_Silent_p.L8L|LILRB1_ENST00000448689.1_Silent_p.L8L|LILRA2_ENST00000391737.1_Silent_p.L8L|LILRA2_ENST00000391738.3_Silent_p.L8L|LILRA2_ENST00000495786.1_Intron			Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	8					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCACGGTCCTGATCTGTCTCG	0.612000										HNSCC(37;0.09)			22	99					0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77158083	77158083	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:77158083G>A	ENST00000426126.2	+	1	716	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.G23S|ZDHHC17_ENST00000359019.4_Silent_p.R7R	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	23					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TACCGAAGCGGGCTGTGTGCC	0.647000													3	12					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112684754	112684754	+	Silent	SNP	G	G	A			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr12:112684754G>A	ENST00000550722.1	-	29	4421	c.4026C>T	c.(4024-4026)gcC>gcT	p.A1342A	HECTD4_ENST00000430131.2_Silent_p.A1066A|HECTD4_ENST00000377560.5_Silent_p.A1316A	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GGCCCGACTGGGCTGCGATGG	0.498000													5	23					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137623470	137623470	+	Silent	SNP	G	G	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:137623470G>T	ENST00000371817.3	+	8	1707	c.1293G>T	c.(1291-1293)ggG>ggT	p.G431G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	431	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G431G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGAGATCGGGCCGGGAATGC	0.632000													18	104					1.50039e-11	1.56073e-11	1	1	0
SLC2A2	6514	broad.mit.edu	37	3	170715882	170715882	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr3:170715882C>T	ENST00000314251.3	-	11	1464	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	SLC2A2_ENST00000382808.4_Missense_Mutation_p.G343E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	462					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			CACATAAGGTCCACAGAAGTC	0.403000													9	29					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237060364	237060366	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr1:237060364_237060366delCTT	ENST00000366577.5	+	32	4051_4053	c.3657_3659delCTT	c.(3655-3660)tac>ta	p.YF1219del	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_In_Frame_Del_p.YF1168del	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1219	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CAGGCCTCTACTTCTCCAATTTG	0.429													13	131	---	---	---	---					
TAF1B	9014	broad.mit.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr2:9989571delA	ENST00000263663.5	+	3	375	c.187delA	c.(187-189)aafs	p.K65fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	65					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333													2	4	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971053	21971054	+	Frame_Shift_Ins	INS	-	-	C	rs137854598		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr9:21971053_21971054insC	ENST00000579755.1	-	2	639_640	c.347_348insG	c.(346-348)ggcfs	p.G116fs	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.A51fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.A102fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.A51fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.A51fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G116fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.A51fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G157fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.A102fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.A102fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.A102fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.A51fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	132					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.A102V(3)|p.A102E(2)|p.H83fs*2(2)|p.A102P(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.A102T(1)|p.A102fs*42(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTCCAGCCGCGCCCCGGCCCGG	0.752		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	37	---	---	---	---					
CYP2C19	1557	broad.mit.edu	37	10	96580325	96580325	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr10:96580325delG	ENST00000371321.3	+	6	974	c.892delG	c.(892-894)ggfs	p.G298fs	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	298					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ACTTGGAGCTGGGACAGAGAC	0.428													28	68	---	---	---	---					
IGLV3-9	28804	broad.mit.edu	37	22	23161844	23161845	+	RNA	DEL	CC	CC	-	rs72002333		TCGA-D3-A5GR-06A-11D-A27K-08	TCGA-D3-A5GR-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0079226d-e41f-4d63-96f1-92599cb10e05	bd19435c-94cd-48a3-aac2-6661cf58f1db	g.chr22:23161844_23161845delCC	ENST00000390316.2	+	0	161																											TGCTCATGGTCCCCTGAGGACA	0.554													6	5	---	---	---	---