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
ADCY8	114	broad.mit.edu	37	8	131861869	131861869	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:131861869G>A	ENST00000286355.5	-	10	4483	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	797					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCACCCAGGAAATTAATCA	0.453000										HNSCC(32;0.087)			18	24					0	0	0.000175454	0	0
ELP3	55140	broad.mit.edu	37	8	27965461	27965461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:27965461G>A	ENST00000256398.8	+	5	738	c.361G>A	c.(361-363)Gag>Aag	p.E121K	ELP3_ENST00000542181.1_Intron|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000521015.1_Missense_Mutation_p.E107K|ELP3_ENST00000524103.1_Missense_Mutation_p.E49K|ELP3_ENST00000537665.1_Intron|ELP3_ENST00000380353.4_Missense_Mutation_p.E29K	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	121					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTCTGATTTTGAGTATTCCAC	0.423000													11	43					0	0	6.40141e-05	0	0
BRAF	673	broad.mit.edu	37	7	140500190	140500190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:140500190G>A	ENST00000288602.6	-	7	1012	c.952C>T	c.(952-954)Cct>Tct	p.P318S		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	318					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		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)	GGTGCGGAAGGGGATGATCCA	0.502000		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				22	94					0	0	0.000375601	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751364	19751364	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:19751364C>T	ENST00000400113.3	-	4	863	c.759G>A	c.(757-759)acG>acA	p.T253T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	253					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T253T(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCTGGAATTCCGTCAAGTCCA	0.612000													14	59					0	0	0.000308642	0	0
OR1A2	26189	broad.mit.edu	37	17	3101635	3101635	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:3101635A>T	ENST00000381951.1	+	1	823	c.823A>T	c.(823-825)Atg>Ttg	p.M275L		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						GATAACTGTGATGTATGTGGC	0.438000													18	116					0	0	9.7654e-05	0	0
SHANK2	22941	broad.mit.edu	37	11	70331609	70331609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:70331609G>A	ENST00000338508.4	-	32	4791	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	SHANK2_ENST00000409161.1_Missense_Mutation_p.L1001F|SHANK2_ENST00000449833.2_Missense_Mutation_p.L1002F|SHANK2_ENST00000423696.2_Missense_Mutation_p.L1218F			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1218					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTGGCTGGAGAACCTTGGCC	0.572000													12	80					0	0	6.40141e-05	0	0
SMAD1	4086	broad.mit.edu	37	4	146461204	146461204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:146461204C>T	ENST00000515385.1	+	3	1191	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	SMAD1_ENST00000394092.2_Nonsense_Mutation_p.Q217*|SMAD1_ENST00000302085.4_Nonsense_Mutation_p.Q217*			Q15797	SMAD1_HUMAN	SMAD family member 1	217					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGCCCTTTCCAGATGCCAGG	0.527000													16	44					0	0	0.000295444	0	0
CER1	9350	broad.mit.edu	37	9	14722205	14722205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:14722205C>T	ENST00000380911.3	-	1	510	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	156					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CAATGTACTTCATGGCTTTTG	0.517000													12	53					0	0	0.000219431	0	0
NPAS3	64067	broad.mit.edu	37	14	33684575	33684575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:33684575G>A	ENST00000346562.2	+	2	312	c.238G>A	c.(238-240)Ggg>Agg	p.G80R	NPAS3_ENST00000551492.1_Missense_Mutation_p.G117R|NPAS3_ENST00000551008.1_Missense_Mutation_p.G8R|NPAS3_ENST00000357798.5_Missense_Mutation_p.G80R|NPAS3_ENST00000341321.4_Missense_Mutation_p.G110R|NPAS3_ENST00000547068.1_Missense_Mutation_p.G8R|NPAS3_ENST00000548645.1_Missense_Mutation_p.G80R|NPAS3_ENST00000356141.4_Missense_Mutation_p.G110R	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	110	Helix-loop-helix motif.			PLP -> LS (in Ref. 4; CAB45154).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.G80R(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGCTAACCAGGGGGACCCTCC	0.473000													14	70					0	0	0.000219431	0	0
CTC1	80169	broad.mit.edu	37	17	8141515	8141515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:8141515G>A	ENST00000315684.8	-	4	488	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	161					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTCCAACGGGGGAACAGAAAA	0.527000													4	37					0	0	1.23904e-05	0	0
ADCY8	114	broad.mit.edu	37	8	132051911	132051911	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:132051911C>T	ENST00000286355.5	-	1	2761	c.669G>A	c.(667-669)gaG>gaA	p.E223E	ADCY8_ENST00000377928.3_Silent_p.E223E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	223					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGATCACTACCTCAATGCCGG	0.617000										HNSCC(32;0.087)			6	21					0	0	3.59834e-05	0	0
TTN	7273	broad.mit.edu	37	2	179600567	179600567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:179600567G>A	ENST00000589042.1	-	50	14830	c.14606C>T	c.(14605-14607)gCt>gTt	p.A4869V	TTN_ENST00000591111.1_Missense_Mutation_p.A4552V|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A3625V|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4552	Ig-like 29.						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)			CTTGTTGGAAGCCTTACAAGA	0.403000													7	45					0	0	8.12818e-05	0	0
AZI1	22994	broad.mit.edu	37	17	79180936	79180936	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:79180936A>T	ENST00000269392.4	-	4	623	c.376T>A	c.(376-378)Tgg>Agg	p.W126R	AZI1_ENST00000450824.2_Missense_Mutation_p.W126R|AZI1_ENST00000374782.3_Missense_Mutation_p.W126R|AZI1_ENST00000575907.1_Missense_Mutation_p.W126R	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	126					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGGACGTTCCAGGTGGCTCCC	0.592000													7	29					0	0	8.12818e-05	0	0
DNAH9	1770	broad.mit.edu	37	17	11701013	11701013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:11701013G>A	ENST00000262442.3	+	43	8391	c.8323G>A	c.(8323-8325)Gaa>Aaa	p.E2775K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2775K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2775					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)		ACAGTCTTGGGAACTTTTGAC	0.493000													11	42					0	0	3.86212e-05	0	0
GK2	2712	broad.mit.edu	37	4	80327846	80327846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:80327846C>T	ENST00000358842.3	-	1	1526	c.1509G>A	c.(1507-1509)tgG>tgA	p.W503*		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	503					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CGGCTTTCTTCCATGTGGCAT	0.463000													16	77					0	0	0.000132079	0	0
MIB1	57534	broad.mit.edu	37	18	19359612	19359612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:19359612C>T	ENST00000261537.6	+	6	1138	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	292					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGATGAAGATCATGACATTGT	0.368000													29	178					0	0	0.000227799	0	0
CXXC11	285093	broad.mit.edu	37	2	242814518	242814518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:242814518C>T	ENST00000343216.3	+	2	839	c.811C>T	c.(811-813)Cac>Tac	p.H271Y		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	271						integral to membrane											CCCCCTCTTCCACGGCCCCGG	0.672000													8	46					0	0	6.40141e-05	0	0
CD84	8832	broad.mit.edu	37	1	160523806	160523806	+	Silent	SNP	T	T	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:160523806T>C	ENST00000368054.3	-	3	554	c.519A>G	c.(517-519)gaA>gaG	p.E173E	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000311224.4_Silent_p.E173E|CD84_ENST00000534968.1_Silent_p.E59E|CD84_ENST00000368051.3_Silent_p.E173E|CD84_ENST00000368048.3_Silent_p.E173E|CD84_ENST00000368047.3_5'UTR	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	173	Ig-like C2-type.				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATTACCCTCTTCTCCCAGGG	0.458000													13	75					0	0	5.01169e-05	0	0
CASS4	57091	broad.mit.edu	37	20	55033446	55033446	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:55033446G>A	ENST00000371336.3	+	6	2205	c.2004G>A	c.(2002-2004)agG>agA	p.R668R	CASS4_ENST00000434344.1_Silent_p.R231R|CASS4_ENST00000360314.3_Silent_p.R668R	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	668					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTCCTGAGAGGAAACCCCGCT	0.527000													6	52					0	0	0.000157383	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778079	56778079	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:56778079G>A	ENST00000423391.1	-	1	557	c.456C>T	c.(454-456)atC>atT	p.I152I	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	152						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AATCCATCACGATGCCTGTGG	0.552000													17	41					0	0	9.7654e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9077420	9077420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:9077420C>T	ENST00000397910.4	-	3	10229	c.10026G>A	c.(10024-10026)atG>atA	p.M3342I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3343	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAGAATTCCATTCCAGTTG	0.502000													27	96					0	0	0.000117367	0	0
ANKRD44	91526	broad.mit.edu	37	2	197964578	197964578	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:197964578C>T	ENST00000328737.2	-	10	1063	c.987G>A	c.(985-987)ttG>ttA	p.L329L	ANKRD44_ENST00000539527.1_Silent_p.L282L|ANKRD44_ENST00000409919.1_Silent_p.L354L|ANKRD44_ENST00000409153.1_Silent_p.L354L|ANKRD44_ENST00000337207.5_Silent_p.L329L|ANKRD44_ENST00000450567.1_Silent_p.L329L|ANKRD44_ENST00000282272.8_Silent_p.L346L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	354							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGGTGTTAATCAAAAGCTCAT	0.433000													15	58					0	0	0.000422831	0	0
FBXO22	26263	broad.mit.edu	37	15	76225310	76225310	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:76225310A>C	ENST00000308275.3	+	7	1184	c.1079A>C	c.(1078-1080)aAt>aCt	p.N360T	FBXO22_ENST00000540507.1_Missense_Mutation_p.N256T	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	360					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTCTTTGGAAATGGAGAAATT	0.388000													24	100					0	0	0.000117367	0	0
ASTN1	460	broad.mit.edu	37	1	177001730	177001730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:177001730C>T	ENST00000367654.2	-	3	740	c.727G>A	c.(727-729)Gag>Aag	p.E243K	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.E243K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E243K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E243K			O14525	ASTN1_HUMAN	astrotactin 1	243					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATGTCATACTCATAGCCGTCC	0.642000													14	58					0	0	0.000308642	0	0
MYH10	4628	broad.mit.edu	37	17	8452063	8452063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:8452063G>A	ENST00000360416.3	-	10	1100	c.962C>T	c.(961-963)tCc>tTc	p.S321F	MYH10_ENST00000396239.1_Missense_Mutation_p.S311F|MYH10_ENST00000379980.4_Missense_Mutation_p.S327F|MYH10_ENST00000269243.4_Missense_Mutation_p.S311F	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	311	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATAGCCATTGGAGAGAAACCT	0.373000													29	177					0	0	0.000409698	0	0
CNTD1	124817	broad.mit.edu	37	17	40955691	40955691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:40955691C>T	ENST00000588408.1	+	2	499	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	CNTD1_ENST00000588527.1_5'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	75	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGTGAGCTACCAGGCTGTAGA	0.418000													33	155					0	0	0.000319135	0	0
SLC5A10	125206	broad.mit.edu	37	17	18862036	18862036	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:18862036C>T	ENST00000395647.2	+	2	194	c.153C>T	c.(151-153)ttC>ttT	p.F51F	SLC5A10_ENST00000395645.3_Silent_p.F51F|SLC5A10_ENST00000417251.2_Silent_p.F51F|SLC5A10_ENST00000395642.1_5'UTR|SLC5A10_ENST00000395643.2_Silent_p.F51F|SLC5A10_ENST00000317977.6_5'UTR	NM_152351.3	NP_689564.3	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	51					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ATGGCTACTTCCTGGCAGGCC	0.592000													8	59					0	0	0.00010058	0	0
TSPAN16	26526	broad.mit.edu	37	19	11406992	11406992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:11406992C>T	ENST00000316737.1	+	1	169	c.19C>T	c.(19-21)Ccg>Tcg	p.P7S	TSPAN16_ENST00000592955.1_Missense_Mutation_p.P7S|TSPAN16_ENST00000590327.1_Missense_Mutation_p.P7S	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	7						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AATCCACACTCCGTATTCTTC	0.473000													12	70					0	0	0.00010058	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596100	97596100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:97596100C>T	ENST00000182096.4	+	1	282	c.218C>T	c.(217-219)aCa>aTa	p.T73I		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GCAAGACAAACACAGTCTGTC	0.418000													11	41					0	0	3.86212e-05	0	0
BLK	640	broad.mit.edu	37	8	11407687	11407687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:11407687G>A	ENST00000259089.4	+	6	980	c.388G>A	c.(388-390)Ggt>Agt	p.G130S	BLK_ENST00000529894.1_Missense_Mutation_p.G59S	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	130	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TAGATCACAGGGTCGGAAGGA	0.542000													16	92					0	0	0.000422831	0	0
THADA	63892	broad.mit.edu	37	2	43819106	43819106	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:43819106G>A	ENST00000403856.1	-	4	303	c.156C>T	c.(154-156)atC>atT	p.I52I	THADA_ENST00000402360.2_Silent_p.I52I|THADA_ENST00000405006.4_Silent_p.I52I|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Silent_p.I52I|THADA_ENST00000405975.2_Silent_p.I52I			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	52							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TAATATAATGGATTTGTGACA	0.323000													41	214					0	0	0.000270559	0	0
PSG3	5671	broad.mit.edu	37	19	43243087	43243087	+	Silent	SNP	C	C	T	rs150813172		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:43243087C>T	ENST00000327495.5	-	2	403	c.219G>A	c.(217-219)aaG>aaA	p.K73K	PSG3_ENST00000595140.1_Silent_p.K73K|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	73	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGTAGAGGTCCTTCATTTGCC	0.438000													44	190					0	0	0.000374591	0	0
PLXNB2	23654	broad.mit.edu	37	22	50727255	50727255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr22:50727255G>A	ENST00000449103.1	-	5	1437	c.1297C>T	c.(1297-1299)Ctt>Ttt	p.L433F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.L433F			O15031	PLXB2_HUMAN	plexin B2	433	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATCTCCACAAGGATAGAGTCG	0.617000													4	15					0	0	0.00024832	0	0
OR5F1	338674	broad.mit.edu	37	11	55761571	55761571	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:55761571G>A	ENST00000278409.1	-	1	530	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F177L(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TGTCACAGAAGAAGTGATGGA	0.473000													13	97					0	0	0.000308642	0	0
CELSR1	9620	broad.mit.edu	37	22	46832145	46832145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr22:46832145C>T	ENST00000262738.3	-	4	4447	c.4448G>A	c.(4447-4449)gGc>gAc	p.G1483D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1483	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTGAAGCGGCCGTTGTAGAG	0.592000													8	45					0	0	2.17888e-05	0	0
SDR16C5	195814	broad.mit.edu	37	8	57219301	57219301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:57219301C>T	ENST00000396721.2	-	4	642	c.512G>A	c.(511-513)gGg>gAg	p.G171E	SDR16C5_ENST00000522671.1_Missense_Mutation_p.G215E|SDR16C5_ENST00000303749.3_Missense_Mutation_p.G215E			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	215					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GGTTTTGATCCCCTTTTGTTT	0.348000													25	80					0	0	5.49717e-05	0	0
CSMD2	114784	broad.mit.edu	37	1	34192215	34192215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:34192215C>T	ENST00000373381.4	-	16	2616	c.2440G>A	c.(2440-2442)Gat>Aat	p.D814N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	774	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCAAGGCATCCTTGTAGAAG	0.617000													7	28					0	0	8.12818e-05	0	0
ITGAV	3685	broad.mit.edu	37	2	187521043	187521043	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:187521043A>G	ENST00000261023.3	+	17	1908	c.1634A>G	c.(1633-1635)tAc>tGc	p.Y545C	ITGAV_ENST00000433736.2_Missense_Mutation_p.Y499C|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.Y509C	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	545					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CTGTTTCTCTACAGCAGGTCC	0.433000													5	120					0	0	8.12818e-05	0	0
CLEC3A	10143	broad.mit.edu	37	16	78062066	78062066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:78062066G>A	ENST00000299642.4	+	2	290	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	CLEC3A_ENST00000575655.1_Missense_Mutation_p.E60K|RP11-281J9.2_ENST00000563114.1_RNA	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	60					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TGCCTTGAAGGAAATTCAAGC	0.473000													11	49					0	0	0.000151284	0	0
RET	5979	broad.mit.edu	37	10	43622166	43622166	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:43622166C>T	ENST00000355710.3	+	19	3415	c.3183C>T	c.(3181-3183)ctC>ctT	p.L1061L	RET_ENST00000340058.5_Silent_p.L1061L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1061			L -> P (in HSCR1).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AAAACAAACTCTATGGTAGAA	0.478000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				4	12					0	0	0.00024832	0	0
ANK3	288	broad.mit.edu	37	10	61830991	61830991	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:61830991G>A	ENST00000280772.1	-	37	9839	c.9648C>T	c.(9646-9648)acC>acT	p.T3216T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3216					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTTAAGGGAGGTTGACTTGG	0.483000													27	102					0	0	0.000147802	0	0
MTHFD1	4522	broad.mit.edu	37	14	64909104	64909104	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:64909104A>T	ENST00000555709.1	+	21	2507	c.2120A>T	c.(2119-2121)cAc>cTc	p.H707L	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.7_Missense_Mutation_p.H763L|MTHFD1_ENST00000545908.1_Missense_Mutation_p.H763L	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	707	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTCAAGATGCACGGGGGCGGC	0.527000													8	52					0	0	0.000157383	0	0
KCNA6	3742	broad.mit.edu	37	12	4919960	4919960	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:4919960C>T	ENST00000433855.1	+	1	1619	c.753C>T	c.(751-753)ctC>ctT	p.L251L	KCNA6_ENST00000280684.3_Silent_p.L251L	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	251						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						CCTCCTCACTCAGTACTCTTG	0.562000										HNSCC(72;0.22)			10	97					0	0	3.86212e-05	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762690	130762690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:130762690C>T	ENST00000392429.1	+	2	3501	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	TMEM200A_ENST00000545622.1_Missense_Mutation_p.P375S|TMEM200A_ENST00000296978.3_Missense_Mutation_p.P375S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	375						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCTCTTGTCTCCTGGGGCTGC	0.527000													5	35					0	0	1.23904e-05	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065680	55065680	+	RNA	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:55065680G>A	ENST00000526016.1	-	0	28					NR_038174.2																						CTGGGTCTAGGAAGTAGTTCA	0.478000													7	47					0	0	0.000274275	0	0
HECW1	23072	broad.mit.edu	37	7	43484933	43484933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:43484933C>T	ENST00000395891.1	+	11	2767	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	HECW1_ENST00000453890.1_Missense_Mutation_p.S721F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	721					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGCTTCTCCTCCGTGGACAGC	0.622000													18	38					0	0	7.07596e-05	0	0
ILDR2	387597	broad.mit.edu	37	1	166926005	166926005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:166926005C>T	ENST00000271417.3	-	3	519	c.464G>A	c.(463-465)gGg>gAg	p.G155E	ILDR2_ENST00000526687.1_Missense_Mutation_p.G155E|ILDR2_ENST00000529071.1_Missense_Mutation_p.G155E|ILDR2_ENST00000525740.1_Missense_Mutation_p.G155E|ILDR2_ENST00000529387.1_Missense_Mutation_p.G155E|ILDR2_ENST00000469934.2_Missense_Mutation_p.G155E|ILDR2_ENST00000528703.1_Missense_Mutation_p.G155E	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	155	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTCATTTTTCCCCTCCAGGTC	0.443000													14	70					0	0	0.000151284	0	0
TMEM145	284339	broad.mit.edu	37	19	42819392	42819392	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:42819392C>T	ENST00000598766.1	+	7	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F	TMEM145_ENST00000301204.3_Silent_p.F186F			Q8NBT3	TM145_HUMAN	transmembrane protein 145	186						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				tcatcttcttcctctcttGTT	0.537000													9	56					0	0	2.17888e-05	0	0
MAGEA10	4109	broad.mit.edu	37	X	151304040	151304040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:151304040G>A	ENST00000370323.4	-	4	369	c.53C>T	c.(52-54)tCc>tTc	p.S18F	MAGEA10_ENST00000244096.3_Missense_Mutation_p.S18F|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	18										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACTTTGGGATTGAAGATC	0.572000													22	30					0	0	0.000375601	0	0
C16orf89	146556	broad.mit.edu	37	16	5110293	5110293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:5110293C>T	ENST00000315997.5	-	3	704	c.503G>A	c.(502-504)gGa>gAa	p.G168E	ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Missense_Mutation_p.G206E|C16orf89_ENST00000472572.3_Missense_Mutation_p.G168E|C16orf89_ENST00000422873.1_Missense_Mutation_p.G206E|C16orf89_ENST00000474471.3_Missense_Mutation_p.G168E	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	168						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCACCCGGTTCCCAGCAGCTG	0.607000													8	48					0	0	0.000274275	0	0
TRIM60	166655	broad.mit.edu	37	4	165962087	165962087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:165962087G>A	ENST00000512596.1	+	3	1079	c.863G>A	c.(862-864)aGa>aAa	p.R288K	TRIM60_ENST00000508504.1_Missense_Mutation_p.R288K|TRIM60_ENST00000341062.5_Missense_Mutation_p.R288K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	288	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGCTTGGACAGAATTATCAAG	0.373000													14	112					0	0	7.07596e-05	0	0
AP4S1	11154	broad.mit.edu	37	14	31539121	31539121	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:31539121G>T	ENST00000216366.4	+	3	419	c.211G>T	c.(211-213)Gtt>Ttt	p.V71F	AP4S1_ENST00000554345.1_Missense_Mutation_p.V71F|AP4S1_ENST00000313566.6_Missense_Mutation_p.V71F|AP4S1_ENST00000334725.4_Missense_Mutation_p.V71F|AP4S1_ENST00000542754.2_Missense_Mutation_p.V71F|AP4S1_ENST00000554609.1_Missense_Mutation_p.V71F	NM_007077.4	NP_009008.2	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit	71						coated pit|Golgi apparatus	protein transporter activity			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		TGTGGTTGGAGTTAATGACAC	0.338000													61	318					2.02627e-32	4.98361e-31	0.000147903	1	0
ITGA3	3675	broad.mit.edu	37	17	48153710	48153710	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:48153710C>T	ENST00000320031.8	+	13	2025	c.1695C>T	c.(1693-1695)ctC>ctT	p.L565L	ITGA3_ENST00000544892.1_3'UTR|ITGA3_ENST00000007722.7_Silent_p.L565L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	565					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GTGACAAACTCCGCCCCATCA	0.637000													10	91					0	0	3.86212e-05	0	0
RP1	6101	broad.mit.edu	37	8	55539411	55539411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:55539411G>A	ENST00000220676.1	+	4	3117	c.2969G>A	c.(2968-2970)gGa>gAa	p.G990E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	990					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTAAAGAGGGAGATAAGTCT	0.373000													21	164					0	0	0.000229342	0	0
CDCP1	64866	broad.mit.edu	37	3	45132840	45132840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:45132840C>T	ENST00000296129.1	-	7	1952	c.1818G>A	c.(1816-1818)atG>atA	p.M606I		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	606						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCTGGATGATCATGAATGCGC	0.602000													11	41					0	0	3.86212e-05	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713147	32713147	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:32713147C>T	ENST00000374940.3	+	2	396	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	98	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTTGGAATTCATGATGAGAC	0.443000													16	126					0	0	5.01169e-05	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38494448	38494448	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr22:38494448C>T	ENST00000381669.3	-	5	462	c.318G>A	c.(316-318)aaG>aaA	p.K106K	BAIAP2L2_ENST00000332536.5_Silent_p.K106K	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	106	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GCTTGGTGTTCTTCTCCATGT	0.602000											OREG0026556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	64					0	0	0.00010058	0	0
HOXB9	3219	broad.mit.edu	37	17	46700460	46700460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:46700460G>A	ENST00000550387.1	-	2	519	c.316C>T	c.(316-318)Ccg>Tcg	p.P106S	HOXB7_ENST00000567101.1_Intron|HOXB9_ENST00000311177.5_Silent_p.S185S			P17482	HXB9_HUMAN	homeobox B9	0					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GCTTTTTCCGGGAAGAGCGAG	0.547000													11	99					0	0	0.000151284	0	0
EPPK1	83481	broad.mit.edu	37	8	144942235	144942235	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:144942235G>A	ENST00000525985.1	-	2	5258	c.5187C>T	c.(5185-5187)ttC>ttT	p.F1729F				P58107	EPIPL_HUMAN	epiplakin 1	1729						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.622000													21	42					0	0	9.22233e-05	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86324795	86324795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:86324795G>A	ENST00000503906.1	-	1	157	c.158C>T	c.(157-159)cCc>cTc	p.P53L	SYNCRIP_ENST00000355238.6_Silent_p.P517P|SYNCRIP_ENST00000369622.3_Silent_p.P517P																							CTCTACCGCGGGGAGGAGCAG	0.577000													15	70					0	0	7.07596e-05	0	0
FLT1	2321	broad.mit.edu	37	13	29005419	29005419	+	Missense_Mutation	SNP	C	C	T	rs55687105		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:29005419C>T	ENST00000282397.4	-	7	1093	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	FLT1_ENST00000539099.1_Missense_Mutation_p.R281Q|FLT1_ENST00000541932.1_Missense_Mutation_p.R281Q	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	281	Ig-like C2-type 3.		R -> Q (in dbSNP:rs55687105).		cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.R281Q(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTGGTCAATTCGTCGCCTTAC	0.343000													16	88					0	0	7.07596e-05	0	0
SUMF2	25870	broad.mit.edu	37	7	56136222	56136222	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:56136222C>T	ENST00000434526.2	+	2	203	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	SUMF2_ENST00000395435.2_Silent_p.L58L|SUMF2_ENST00000395436.2_Silent_p.L58L|SUMF2_ENST00000437307.2_Silent_p.L39L|SUMF2_ENST00000413756.1_Silent_p.L39L|SUMF2_ENST00000275607.9_Intron|SUMF2_ENST00000342190.6_Silent_p.L58L	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	39						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGATTCCTGATGGGAAC	0.468000													8	48					0	0	3.86212e-05	0	0
HOOK2	29911	broad.mit.edu	37	19	12874530	12874530	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:12874530G>A	ENST00000264827.5	-	20	2054	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	HOOK2_ENST00000397668.3_Silent_p.S630S	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	630	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GTGTCCTCAGGGAATGGAGTT	0.602000													8	38					0	0	2.17888e-05	0	0
CYLC2	1539	broad.mit.edu	37	9	105767754	105767754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:105767754G>A	ENST00000374798.3	+	5	911	c.841G>A	c.(841-843)Gac>Aac	p.D281N	CYLC2_ENST00000487798.1_Missense_Mutation_p.D281N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	281	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAGTAGTACAGACAGTGACTC	0.388000													4	28					0	0	0.00024832	0	0
PGK2	5232	broad.mit.edu	37	6	49754181	49754181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:49754181C>T	ENST00000304801.3	-	1	872	c.720G>A	c.(718-720)atG>atA	p.M240I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	240					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGGTATAAGCCATTCCACCAC	0.428000													13	115					0	0	0.000308642	0	0
BTAF1	9044	broad.mit.edu	37	10	93753466	93753466	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:93753466C>T	ENST00000265990.6	+	22	3369	c.3061C>T	c.(3061-3063)Ctg>Ttg	p.L1021L		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1021					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGCCTTACCTGGTACAACG	0.338000													6	33					0	0	0.000274275	0	0
LAMA2	3908	broad.mit.edu	37	6	129704350	129704350	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:129704350C>T	ENST00000421865.2	+	35	5092	c.5043C>T	c.(5041-5043)ttC>ttT	p.F1681F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1681	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGGAGAATTCATTAAGGAGC	0.458000													6	66					0	0	8.12818e-05	0	0
TTN	7273	broad.mit.edu	37	2	179489236	179489236	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:179489236C>G	ENST00000589042.1	-	242	44995	c.44771G>C	c.(44770-44772)tGt>tCt	p.C14924S	TTN_ENST00000591111.1_Missense_Mutation_p.C13283S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C6051S|TTN_ENST00000342992.6_Missense_Mutation_p.C12356S|TTN_ENST00000460472.2_Missense_Mutation_p.C5859S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C5984S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13283	Fibronectin type-III 8.						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)			CTTAGCATCACAAGTGTATGT	0.353000													16	94					0	0	5.01169e-05	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107283032	107283032	+	RNA	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:107283032C>T	ENST00000390639.2	-	0	164																											AGGAGACCTTCACTGAGGCCC	0.572000													17	87					0	0	9.7654e-05	0	0
ZNF14	7561	broad.mit.edu	37	19	19822283	19822283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:19822283G>A	ENST00000344099.3	-	4	1945	c.1807C>T	c.(1807-1809)Cga>Tga	p.R603*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R603*(2)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGAATTCGAACAGAACTT	0.408000													16	55					0	0	5.01169e-05	0	0
CAMK2N1	55450	broad.mit.edu	37	1	20811832	20811832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:20811832G>A	ENST00000375078.3	-	1	881	c.41C>T	c.(40-42)cCc>cTc	p.P14L		NM_018584.5	NP_061054.2	Q7Z7J9	CK2N1_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 1	14						cell junction|postsynaptic density|postsynaptic membrane|synaptosome				lung(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GTCGCCGTAGGGGCTCAGCTT	0.736000													4	9					0	0	8.12818e-05	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329751	8329751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:8329751C>T	ENST00000359286.4	+	5	564	c.475C>T	c.(475-477)Cct>Tct	p.P159S		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TCTTTTCTCCCCTAAACCACA	0.373000													33	155					0	0	0.000339439	0	0
LRRCC1	85444	broad.mit.edu	37	8	86035759	86035759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:86035759C>T	ENST00000414626.2	+	6	1871	c.982C>T	c.(982-984)Cct>Tct	p.P328S	LRRCC1_ENST00000360375.3_Missense_Mutation_p.P348S			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	348					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TAGAAAAGTTCCTCGAAGATC	0.328000													44	128					0	0	0.000374591	0	0
LAMA1	284217	broad.mit.edu	37	18	6977880	6977880	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:6977880G>A	ENST00000389658.3	-	44	6284	c.6190_splice	c.e44-1	p.T2064_splice		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2064	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCAACAGAGCTAACAAATA	0.408000													7	31					0	0	8.12818e-05	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881316	108881316	+	Silent	SNP	C	C	T	rs150872787		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:108881316C>T	ENST00000329106.2	+	6	657	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	219						cytoplasm	alcohol sulfotransferase activity	p.F219F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TACTGAAGTTCCTGGAAAAAG	0.403000													15	33					0	0	0.000308642	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884117	24884117	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:24884117C>T	ENST00000382554.3	+	9	3480	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1054					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCTGGACATCGACCTCCTGC	0.652000													11	70					0	0	6.40141e-05	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916516	86916516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:86916516C>T	ENST00000395184.1	+	9	2175	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.S475F|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.S477F	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	570					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AACTCCAACTCCTGTCGCTCT	0.537000													16	68					0	0	7.07596e-05	0	0
NTNG1	22854	broad.mit.edu	37	1	107867110	107867110	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:107867110C>T	ENST00000370067.1	+	3	1080	c.453C>T	c.(451-453)acC>acT	p.T151T	NTNG1_ENST00000370066.1_Silent_p.T151T|NTNG1_ENST00000370061.3_Silent_p.T151T|NTNG1_ENST00000370065.1_Silent_p.T151T|NTNG1_ENST00000542803.1_Silent_p.T151T|NTNG1_ENST00000370072.3_Silent_p.T151T|NTNG1_ENST00000370068.1_Silent_p.T151T|NTNG1_ENST00000370074.4_Silent_p.T151T|NTNG1_ENST00000370071.2_Silent_p.T151T|NTNG1_ENST00000370073.2_Silent_p.T151T|NTNG1_ENST00000370070.2_Silent_p.T151T|NTNG1_ENST00000477948.1_3'UTR			Q9Y2I2	NTNG1_HUMAN	netrin G1	151	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TAGTTATTACCTTTGAATCTG	0.468000													13	63					0	0	0.000151284	0	0
AGT	183	broad.mit.edu	37	1	230839065	230839065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:230839065C>T	ENST00000366667.4	-	5	1494	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	427					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AAAAAAAATGCTGTTCAGCAC	0.572000													8	39					0	0	2.17888e-05	0	0
NOD1	10392	broad.mit.edu	37	7	30492184	30492184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:30492184G>A	ENST00000423334.2	-	7	1154	c.713C>T	c.(712-714)tCg>tTg	p.S238L	NOD1_ENST00000222823.4_Silent_p.F283F			Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	0	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCAGGCCATCGAAGGTGAAGA	0.657000													17	36					0	0	0.000422831	0	0
NLRP1	22861	broad.mit.edu	37	17	5461922	5461922	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:5461922C>T	ENST00000345221.3	-	4	2648	c.2094G>A	c.(2092-2094)agG>agA	p.R698R	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Silent_p.R698R|NLRP1_ENST00000577119.1_Silent_p.R698R|NLRP1_ENST00000354411.3_Silent_p.R698R|NLRP1_ENST00000269280.4_Silent_p.R698R|NLRP1_ENST00000262467.5_Silent_p.R698R	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	698					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCATCAGGTTCCTCCCCTGAG	0.557000													12	53					0	0	0.00010058	0	0
ARMC3	219681	broad.mit.edu	37	10	23326322	23326322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:23326322G>A	ENST00000298032.5	+	19	2617	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K	ARMC3_ENST00000376528.4_Missense_Mutation_p.E582K|ARMC3_ENST00000409983.3_Missense_Mutation_p.E838K	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	845							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCCCGCTCCTGAGATGTACGT	0.512000													15	48					0	0	0.000422831	0	0
EDC3	80153	broad.mit.edu	37	15	74948195	74948195	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:74948195G>A	ENST00000315127.4	-	4	880	c.699C>T	c.(697-699)tcC>tcT	p.S233S	EDC3_ENST00000426797.3_Silent_p.S233S|EDC3_ENST00000568176.1_Silent_p.S233S	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	233	Required for interaction with DDX6 (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGATGCCCCGGGAACGGGTAC	0.502000													14	72					0	0	5.01169e-05	0	0
AFM	173	broad.mit.edu	37	4	74364937	74364937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:74364937G>A	ENST00000226355.3	+	11	1489	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	466	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACGCTAAGTGAAGAGTTTGC	0.403000													8	38					0	0	0.000274275	0	0
ARMC4	55130	broad.mit.edu	37	10	28225697	28225697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:28225697C>T	ENST00000305242.5	-	15	2302	c.2210G>A	c.(2209-2211)gGg>gAg	p.G737E	ARMC4_ENST00000537576.1_Missense_Mutation_p.G429E|ARMC4_ENST00000545014.1_Missense_Mutation_p.G262E	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	737							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCATATAGCCCCTGTGACAGC	0.458000													23	103					0	0	0.000375601	0	0
OR4K1	79544	broad.mit.edu	37	14	20404433	20404433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:20404433G>A	ENST00000285600.4	+	1	667	c.608G>A	c.(607-609)aGt>aAt	p.S203N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTAACGAACAGTGGCCTGATA	0.453000													14	115					0	0	0.000308642	0	0
MYH1	4619	broad.mit.edu	37	17	10408207	10408207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:10408207C>T	ENST00000226207.5	-	22	2705	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	871						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						CTTTTTGCCTCGGTCTTAGCC	0.423000													19	95					0	0	0.000175454	0	0
TM4SF5	9032	broad.mit.edu	37	17	4686202	4686202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:4686202G>A	ENST00000270560.3	+	4	480	c.449G>A	c.(448-450)cGc>cAc	p.R150H		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	150						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GCGCCCCCTCGCGTGGTCCCC	0.647000													6	31					0	0	2.17888e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	41306689	41306689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:41306689C>T	ENST00000373198.3	-	7	1205	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PTPRT_ENST00000373184.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E324K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E324K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E324K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	324	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TATTCCACTTCCTTCAGGATG	0.567000													14	65					0	0	0.000422831	0	0
SPTB	6710	broad.mit.edu	37	14	65241884	65241884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:65241884C>T	ENST00000389722.3	-	22	4854	c.4801G>A	c.(4801-4803)Ggc>Agc	p.G1601S	SPTB_ENST00000542895.1_Missense_Mutation_p.G1601S|SPTB_ENST00000389721.5_Missense_Mutation_p.G1601S|SPTB_ENST00000556626.1_Missense_Mutation_p.G1601S|SPTB_ENST00000389720.3_Missense_Mutation_p.G1601S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1601					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCTGCTCGCCAATCCAGGCC	0.637000													12	66					0	0	0.000151284	0	0
CR1	1378	broad.mit.edu	37	1	207680083	207680083	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:207680083A>T	ENST00000367049.4	+	3	326	c.326A>T	c.(325-327)gAt>gTt	p.D109V	CR1_ENST00000367053.1_Missense_Mutation_p.D109V|CR1_ENST00000367051.1_Missense_Mutation_p.D109V|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.D109V|CR1_ENST00000367052.1_Missense_Mutation_p.D109V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	109	Sushi 2.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATCCTCCAGATCCTGTGAAT	0.388000													9	65					0	0	3.86212e-05	0	0
BBX	56987	broad.mit.edu	37	3	107491624	107491624	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:107491624G>A	ENST00000415149.2	+	11	1383	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	BBX_ENST00000325805.8_Silent_p.K352K|BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Silent_p.K352K|BBX_ENST00000406780.1_Silent_p.K352K	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GGTTACAGAAGGAAGCAGAAT	0.313000													40	145					0	0	0.000147903	0	0
RSPH4A	345895	broad.mit.edu	37	6	116937862	116937862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:116937862G>A	ENST00000229554.5	+	1	213	c.76G>A	c.(76-78)Gga>Aga	p.G26R	RSPH4A_ENST00000368581.4_Missense_Mutation_p.G26R|RSPH4A_ENST00000368580.4_Missense_Mutation_p.G26R	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	26					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCATGGGAAGGAAAGACAGC	0.527000									Kartagener syndrome				5	23					0	0	3.59834e-05	0	0
HELZ2	85441	broad.mit.edu	37	20	62193696	62193696	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:62193696G>A	ENST00000467148.1	-	9	6411	c.6342C>T	c.(6340-6342)tcC>tcT	p.S2114S	HELZ2_ENST00000427522.2_Silent_p.S1545S	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TGACCAGCGGGGACGCCTCCT	0.687000													4	6					0	0	0.00024832	0	0
LCTL	197021	broad.mit.edu	37	15	66850213	66850213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:66850213C>T	ENST00000341509.5	-	8	900	c.769G>A	c.(769-771)Gga>Aga	p.G257R	LCTL_ENST00000537670.1_Missense_Mutation_p.G84R	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	257					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGAAATTCCCACCAGACCT	0.532000													19	110					0	0	0.000132079	0	0
COL1A1	1277	broad.mit.edu	37	17	48271395	48271395	+	Missense_Mutation	SNP	G	G	A	rs74315120		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:48271395G>A	ENST00000225964.5	-	25	1794	c.1676C>T	c.(1675-1677)gCc>gTc	p.A559V		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	559	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ATCTTGACCGGCGGGACCCTA	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						10	56					0	0	0.00010058	0	0
UNC5D	137970	broad.mit.edu	37	8	35406867	35406867	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:35406867C>G	ENST00000287272.2	+	2	181	c.161C>G	c.(160-162)cCt>cGt	p.P54R	UNC5D_ENST00000404895.2_Missense_Mutation_p.P54R|UNC5D_ENST00000420357.1_Missense_Mutation_p.P54R|UNC5D_ENST00000416672.1_Missense_Mutation_p.P54R|UNC5D_ENST00000453357.2_Missense_Mutation_p.P49R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	54	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGGACACTGCCTCATTTCATA	0.463000													6	44					0	0	0.000157383	0	0
ABCD4	5826	broad.mit.edu	37	14	74759505	74759505	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:74759505G>A	ENST00000356924.4	-	9	1025	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ABCD4_ENST00000557588.1_3'UTR|ABCD4_ENST00000557554.1_Intron|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Silent_p.F190F	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	294	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AGACCCCGCTGAAAATGGGGA	0.537000													8	46					0	0	3.86212e-05	0	0
GPR141	353345	broad.mit.edu	37	7	37780105	37780105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:37780105C>T	ENST00000447769.1	+	4	399	c.110C>T	c.(109-111)tCc>tTc	p.S37F	GPR141_ENST00000334425.1_Missense_Mutation_p.S37F|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	37						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTGTCATTTCCATTCTTTTC	0.498000													8	75					0	0	0.000157383	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768064	31768064	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:31768064G>A	ENST00000240587.4	-	2	2962	c.2635C>T	c.(2635-2637)Ctg>Ttg	p.L879L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	879					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCCTCCTCCAGAGTGGCCCCG	0.577000													13	34					0	0	0.00010058	0	0
TICRR	90381	broad.mit.edu	37	15	90118964	90118964	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:90118964C>T	ENST00000268138.7	+	1	252	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TICRR_ENST00000560985.1_Silent_p.F49F|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		CCTTCAAGTTCTTTGACTCGC	0.711000													5	13					0	0	8.12818e-05	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143833	142143833	+	RNA	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:142143833G>A	ENST00000390373.2	-	0	162																											GGGTCTTGTCGATACCGATAC	0.493000													16	86					0	0	9.7654e-05	0	0
SEPT12	124404	broad.mit.edu	37	16	4833519	4833519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:4833519G>A	ENST00000268231.8	-	7	933	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	SEPT12_ENST00000396693.5_Missense_Mutation_p.P178S	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	224					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CACATCTGGGGGTAGACGTCG	0.602000													25	93					0	0	9.22233e-05	0	0
NAT2	10	broad.mit.edu	37	8	18258334	18258334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:18258334C>T	ENST00000286479.3	+	2	928	c.821C>T	c.(820-822)tCc>tTc	p.S274F	NAT2_ENST00000520116.1_Missense_Mutation_p.S144F	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	274					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TTTAAGATTTCCTTGGGGAGA	0.358000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				18	89					0	0	0.000229342	0	0
EDNRA	1909	broad.mit.edu	37	4	148406839	148406839	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:148406839A>C	ENST00000324300.5	+	2	521	c.6A>C	c.(4-6)gaA>gaC	p.E2D	EDNRA_ENST00000506066.1_Missense_Mutation_p.E2D|EDNRA_ENST00000339690.5_Missense_Mutation_p.E2D|EDNRA_ENST00000358556.4_Missense_Mutation_p.E2D|EDNRA_ENST00000511804.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	2					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TCAAGATGGAAACCCTTTGCC	0.388000													7	40					0	0	0.000157383	0	0
GBA3	57733	broad.mit.edu	37	4	22749662	22749662	+	RNA	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:22749662G>A	ENST00000511446.1	+	0	1033				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAAAAATGTGGATTGGATCTA	0.373000													7	32					0	0	0.000157383	0	0
KCNH8	131096	broad.mit.edu	37	3	19575176	19575176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:19575176C>T	ENST00000328405.2	+	16	3175	c.2909C>T	c.(2908-2910)cCc>cTc	p.P970L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	970	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGGAGCAGCCCCCAACGAACT	0.488000													27	66					0	0	0.000279167	0	0
FGF7	2252	broad.mit.edu	37	15	49776595	49776595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:49776595G>A	ENST00000267843.4	+	4	1090	c.479G>A	c.(478-480)gGa>gAa	p.G160E	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	160					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACACACAACGGAGGGGAAATG	0.353000													15	57					0	0	0.000308642	0	0
SLC25A41	284427	broad.mit.edu	37	19	6432137	6432137	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:6432137G>A	ENST00000321510.6	-	2	354	c.286C>T	c.(286-288)Cta>Tta	p.L96L		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	96					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						CCTGAGAGTAGAAACTTCCAC	0.612000													10	34					0	0	2.17888e-05	0	0
OR4K5	79317	broad.mit.edu	37	14	20389533	20389533	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:20389533C>T	ENST00000315915.4	+	1	793	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGCATCTTCATCTATGTGT	0.398000													29	222					0	0	0.000184323	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995392	140995392	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:140995392G>A	ENST00000285879.4	+	4	2488	c.2202G>A	c.(2200-2202)gaG>gaA	p.E734E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	734							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGGGGGAGGACTTCCAGT	0.547000										HNSCC(15;0.026)			29	69					0	0	0.000279167	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397878	57397878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:57397878G>A	ENST00000300101.2	-	2	909	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GCTCAGACAGGAGTTGGTCCC	0.502000													15	78					0	0	0.000422831	0	0
PCDH9	5101	broad.mit.edu	37	13	67205452	67205452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:67205452C>T	ENST00000544246.1	-	4	3921	c.3230G>A	c.(3229-3231)gGa>gAa	p.G1077E	PCDH9_ENST00000377865.2_Missense_Mutation_p.G1077E|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1043E|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1043E	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1077					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GATCAGGGTTCCACTACCCAC	0.547000													9	53					0	0	3.86212e-05	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091490	17091490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:17091490C>T	ENST00000443236.1	-	14	1574	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	468						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TAGGCTTCTTCCCCAACCTAT	0.572000													11	47					0	0	0.00010058	0	0
NRG2	9542	broad.mit.edu	37	5	139232060	139232060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:139232060G>A	ENST00000541337.1	-	6	1532	c.1303C>T	c.(1303-1305)Cct>Tct	p.P435S	NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289409.4_Missense_Mutation_p.P495S|NRG2_ENST00000361474.1_Missense_Mutation_p.P501S|NRG2_ENST00000358522.3_Missense_Mutation_p.P503S|NRG2_ENST00000340391.3_Missense_Mutation_p.P298S|NRG2_ENST00000289422.7_Missense_Mutation_p.P509S|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000545385.1_Missense_Mutation_p.P503S	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	501					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGAGAAGGAGAACAGGAG	0.532000													13	55					0	0	0.000219431	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378106	55378106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:55378106G>A	ENST00000326321.3	+	9	1321	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E430K|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.E413K	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	430					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CGTGTACACGGAACTTCCAAA	0.527000													30	193					0	0	0.000109025	0	0
ACE	1636	broad.mit.edu	37	17	61573825	61573825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:61573825C>T	ENST00000577647.1	+	12	1774	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	ACE_ENST00000290863.6_Missense_Mutation_p.P577S|ACE_ENST00000490216.2_Missense_Mutation_p.P577S|ACE_ENST00000290866.4_Missense_Mutation_p.P1151S|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_Intron|ACE_ENST00000413513.3_Intron			P12821	ACE_HUMAN	angiotensin I converting enzyme	1151	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCACACGGGCCCCCTGCACAA	0.647000													13	50					0	0	0.000151284	0	0
CACNA1S	779	broad.mit.edu	37	1	201061190	201061190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:201061190G>A	ENST00000362061.3	-	4	677	c.451C>T	c.(451-453)Cca>Tca	p.P151S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P151S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	151					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTGCTCATTGGGGCTGTGTGG	0.592000													9	45					0	0	6.40141e-05	0	0
DMXL2	23312	broad.mit.edu	37	15	51791364	51791364	+	Silent	SNP	A	A	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:51791364A>G	ENST00000251076.5	-	18	4344	c.4057T>C	c.(4057-4059)Tta>Cta	p.L1353L	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Silent_p.L1353L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1353						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATCAATTCTAACAGCTGAGTT	0.393000													15	61					0	0	0.000219431	0	0
CASR	846	broad.mit.edu	37	3	121981060	121981060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:121981060C>T	ENST00000498619.1	+	4	1616	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	CASR_ENST00000296154.5_Missense_Mutation_p.P393L|CASR_ENST00000490131.1_Missense_Mutation_p.P393L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	393					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCTTCCGACCCCTCTGTACA	0.493000													8	44					0	0	2.17888e-05	0	0
SPAM1	6677	broad.mit.edu	37	7	123594264	123594264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:123594264C>T	ENST00000340011.5	+	3	997	c.640C>T	c.(640-642)Cac>Tac	p.H214Y	SPAM1_ENST00000402183.2_Missense_Mutation_p.H214Y|SPAM1_ENST00000460182.1_Missense_Mutation_p.H214Y|SPAM1_ENST00000439500.1_Missense_Mutation_p.H214Y|SPAM1_ENST00000223028.7_Missense_Mutation_p.H214Y	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	214					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TCGGCCAAATCACTTGTGGGG	0.373000													19	75					0	0	9.7654e-05	0	0
TNS3	64759	broad.mit.edu	37	7	47336690	47336690	+	Silent	SNP	C	C	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:47336690C>G	ENST00000398879.1	-	24	4032	c.3666G>C	c.(3664-3666)ctG>ctC	p.L1222L	TNS3_ENST00000355730.3_Silent_p.L982L|TNS3_ENST00000311160.9_Silent_p.L1222L			Q68CZ2	TENS3_HUMAN	tensin 3	1222	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTTCTTGTTCAGCTGCAGGA	0.488000													17	105					0	0	9.7654e-05	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94881390	94881390	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:94881390C>T	ENST00000289495.5	+	10	2763	c.2547C>T	c.(2545-2547)acC>acT	p.T849T	PPP1R9A_ENST00000340694.4_Silent_p.T849T|PPP1R9A_ENST00000424654.1_Silent_p.T849T|PPP1R9A_ENST00000433360.1_Silent_p.T871T|PPP1R9A_ENST00000456331.2_Silent_p.T849T|PPP1R9A_ENST00000433881.1_Silent_p.T849T	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	849	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGGGGATACCATGGAGAACT	0.388000										HNSCC(28;0.073)			4	39					0	0	3.59834e-05	0	0
XYLT1	64131	broad.mit.edu	37	16	17235110	17235110	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:17235110A>T	ENST00000261381.6	-	7	1571	c.1487T>A	c.(1486-1488)tTc>tAc	p.F496Y		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	496					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTTCAGCAGGAACCAGTCCGA	0.577000													22	124					0	0	0.000295444	0	0
BRINP3	339479	broad.mit.edu	37	1	190067226	190067226	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:190067226C>T	ENST00000367462.3	-	8	2454	c.2223G>A	c.(2221-2223)agG>agA	p.R741R	FAM5C_ENST00000534846.1_Silent_p.R639R|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		741						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CAGATTGGATCCTCACCACCT	0.443000													22	88					0	0	0.000175454	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935608	151935608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:151935608C>T	ENST00000393902.3	-	3	1126	c.559G>A	c.(559-561)Gat>Aat	p.D187N	MAGEA3_ENST00000370278.3_Missense_Mutation_p.D187N			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	187	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGGCCATCGTAGGAGAGG	0.572000													17	47					0	0	5.01169e-05	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794707	18794707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:18794707G>A	ENST00000377428.2	+	1	338	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		ACCATTTTGCGGTGGACCATT	0.493000													14	67					0	0	0.000422831	0	0
MYH4	4622	broad.mit.edu	37	17	10357112	10357112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:10357112C>T	ENST00000255381.2	-	23	2892	c.2782G>A	c.(2782-2784)Gaa>Aaa	p.E928K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	928					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGCTCTTTCAGTTACCTCT	0.438000													47	282					0	0	0.000147903	0	0
KPRP	448834	broad.mit.edu	37	1	152733030	152733030	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:152733030C>T	ENST00000368773.1	+	2	1024	c.966C>T	c.(964-966)ggC>ggT	p.G322G	KPRP_ENST00000606109.1_Silent_p.G322G	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	322	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGACGTGGCCCCAAGTGCC	0.597000													5	33					0	0	1.23904e-05	0	0
MICU3	286097	broad.mit.edu	37	8	16921659	16921659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:16921659C>T	ENST00000318063.5	+	2	490	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3									p.R150C(1)									GAGGCGATTTCGTTTATTTGC	0.383000													15	99					0	0	0.000219431	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369236	20369236	+	RNA	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:20369236G>A	ENST00000593655.1	-	0	199																											AGTGAATTACGATCAATGTTA	0.413000													11	97					0	0	0.000151284	0	0
DEPDC1	55635	broad.mit.edu	37	1	68960118	68960118	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:68960118G>A	ENST00000456315.2	-	2	423	c.309C>T	c.(307-309)ctC>ctT	p.L103L	DEPDC1_ENST00000370966.5_Silent_p.L103L	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	103	DEP.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ATTACCTGAAGAGCTGGTTGT	0.318000													4	28					0	0	0.00024832	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929442	94929442	+	Silent	SNP	G	G	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:94929442G>T	ENST00000337425.5	-	5	1370	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Silent_p.P332P|SERPINA9_ENST00000380365.3_Silent_p.P414P|SERPINA9_ENST00000424550.2_Silent_p.P283P|SERPINA9_ENST00000448305.2_Silent_p.P334P	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	414					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGGATTTAGTGGGATTTTCCA	0.428000													17	68					1.02788e-11	2.5223e-10	5.01169e-05	1	0
PXDNL	137902	broad.mit.edu	37	8	52336259	52336259	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:52336259G>A	ENST00000356297.4	-	14	1771	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	PXDNL_ENST00000543296.1_Silent_p.F557F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	557	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCCACATGGAATTTACCAC	0.433000													14	39					0	0	0.000308642	0	0
TMC2	117532	broad.mit.edu	37	20	2575613	2575613	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:2575613C>T	ENST00000358864.1	+	9	1091	c.1076_splice	c.e9+1	p.S359_splice		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	359						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTCATTCGATCGTAAGTATGA	0.552000													8	93					0	0	0.000274275	0	0
CTSE	1510	broad.mit.edu	37	1	206327476	206327476	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:206327476A>G	ENST00000361052.3	+	6	798	c.680A>G	c.(679-681)aAc>aGc	p.N227S	CTSE_ENST00000358184.2_Missense_Mutation_p.N222S|CTSE_ENST00000432969.2_Missense_Mutation_p.N147S|CTSE_ENST00000360218.2_Missense_Mutation_p.N222S|CTSE_ENST00000468617.1_3'UTR			P14091	CATE_HUMAN	cathepsin E	227					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCATGTAGTAACCCAGAAGGT	0.537000													24	127					0	0	0.000117367	0	0
CNTN5	53942	broad.mit.edu	37	11	100126624	100126624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:100126624C>T	ENST00000524871.1	+	17	2428	c.2138C>T	c.(2137-2139)tCc>tTc	p.S713F	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.S713F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S639F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S713F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S713F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	713	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCCCATTTTCCCTGGGCTGG	0.493000													14	60					0	0	7.07596e-05	0	0
CACNB2	783	broad.mit.edu	37	10	18803447	18803447	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:18803447G>A	ENST00000377319.3	+	6	522	c.513G>A	c.(511-513)caG>caA	p.Q171Q	CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377315.4_Intron|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000377329.4_Intron|CACNB2_ENST00000324631.7_Intron			Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	260	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TAGCTAAGCAGAAGCAGAAAT	0.393000													10	67					0	0	0.000151284	0	0
WDR66	144406	broad.mit.edu	37	12	122396265	122396265	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:122396265G>A	ENST00000288912.4	+	12	2672	c.1818G>A	c.(1816-1818)aaG>aaA	p.K606K	WDR66_ENST00000397454.2_Silent_p.K606K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	606							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TAGAGCCCAAGGATGCCATTT	0.448000													16	91					0	0	0.000308642	0	0
FPGT	8790	broad.mit.edu	37	1	74670196	74670196	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:74670196C>T	ENST00000370898.2	+	4	502	c.465C>T	c.(463-465)ccC>ccT	p.P155P	FPGT_ENST00000534056.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.4_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000467578.2_3'UTR|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TTGATTTCCCCTTAAATATGA	0.353000													22	95					0	0	0.000229342	0	0
LRRC37B	114659	broad.mit.edu	37	17	30374874	30374874	+	Silent	SNP	G	G	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:30374874G>T	ENST00000327564.7	+	9	2479	c.2418G>T	c.(2416-2418)tcG>tcT	p.S806S	LRRC37B_ENST00000543378.2_Silent_p.S697S|LRRC37B_ENST00000341671.7_Silent_p.S779S|LRRC37B_ENST00000394713.3_Silent_p.S728S|LRRC37B_ENST00000584368.1_Silent_p.S740S			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	779						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTATTGAGTCGGAGGCGCCCT	0.512000													6	179					0.000274275	0.0065655	0.000274275	1	0
FNDC1	84624	broad.mit.edu	37	6	159618564	159618564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:159618564G>A	ENST00000297267.9	+	2	411	c.211G>A	c.(211-213)Gag>Aag	p.E71K	FNDC1_ENST00000340366.6_Missense_Mutation_p.E71K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	71	Fibronectin type-III 1.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TAGACCTGTGGAGCATTACAA	0.473000													31	114					0	0	0.000279167	0	0
CILP2	148113	broad.mit.edu	37	19	19655900	19655900	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:19655900A>T	ENST00000586018.1	+	8	2666	c.2564A>T	c.(2563-2565)cAc>cTc	p.H855L	CILP2_ENST00000291495.4_Missense_Mutation_p.H849L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	849						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGGACGGACCACGACGATCCC	0.706000													4	29					0	0	1.23904e-05	0	0
SUMF2	25870	broad.mit.edu	37	7	56136221	56136221	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:56136221C>T	ENST00000434526.2	+	2	202	c.171C>T	c.(169-171)ttC>ttT	p.F57F	SUMF2_ENST00000395435.2_Silent_p.F57F|SUMF2_ENST00000395436.2_Silent_p.F57F|SUMF2_ENST00000437307.2_Silent_p.F38F|SUMF2_ENST00000413756.1_Silent_p.F38F|SUMF2_ENST00000275607.9_Intron|SUMF2_ENST00000342190.6_Silent_p.F57F	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	38						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGGGAGATTCCTGATGGGAA	0.473000													8	47					0	0	3.86212e-05	0	0
FILIP1	27145	broad.mit.edu	37	6	76063289	76063289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:76063289C>T	ENST00000393004.2	-	4	816	c.595G>A	c.(595-597)Gac>Aac	p.D199N	FILIP1_ENST00000237172.7_Missense_Mutation_p.D199N|FILIP1_ENST00000370020.1_Missense_Mutation_p.D100N			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	199										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGGTGAAGTCGTCGCTCTTG	0.537000													18	129					0	0	9.7654e-05	0	0
ZNF225	7768	broad.mit.edu	37	19	44636489	44636489	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:44636489G>A	ENST00000262894.6	+	5	2002	c.1722G>A	c.(1720-1722)ggG>ggA	p.G574G	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Silent_p.G574G	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AAGAATGTGGGAAGAGCTTTA	0.428000													9	56					0	0	6.40141e-05	0	0
OR4A15	81328	broad.mit.edu	37	11	55135551	55135551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:55135551G>A	ENST00000314706.3	+	1	192	c.192G>A	c.(190-192)atG>atA	p.M64I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TAATCTACATGGTGACGATAA	0.418000													12	58					0	0	0.00010058	0	0
CCDC148	130940	broad.mit.edu	37	2	159028671	159028671	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:159028671T>A	ENST00000283233.5	-	14	2043	c.1730A>T	c.(1729-1731)cAa>cTa	p.Q577L	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Missense_Mutation_p.Q586L	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	577										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGAGGTTTTTGAGGACTAAT	0.338000													16	70					0	0	0.000422831	0	0
STAC3	246329	broad.mit.edu	37	12	57643378	57643378	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:57643378G>A	ENST00000332782.2	-	2	243	c.42C>T	c.(40-42)ttC>ttT	p.F14F	STAC3_ENST00000554578.1_Intron|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	14					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TCTCTGCTGGGAAGGAGGGCT	0.527000													7	47					0	0	0.000274275	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995819	140995819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:140995819G>A	ENST00000285879.4	+	4	2915	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	877							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGTAGATGAATATACAAG	0.493000										HNSCC(15;0.026)			49	98					0	0	0.000147903	0	0
SLFN11	91607	broad.mit.edu	37	17	33690204	33690204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:33690204G>A	ENST00000394566.1	-	4	895	c.623C>T	c.(622-624)cCt>cTt	p.P208L	SLFN11_ENST00000308377.4_Missense_Mutation_p.P208L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	208						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGAGACTCAGGAAAAGGCAG	0.408000													23	94					0	0	0.000375601	0	0
DSG4	147409	broad.mit.edu	37	18	28993088	28993088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:28993088C>T	ENST00000359747.4	+	15	2739	c.2710C>T	c.(2710-2712)Ccc>Tcc	p.P904S	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P885S|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	885					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGATTGACTCCCTCAGAAGT	0.428000													16	80					0	0	0.000422831	0	0
VSIG2	23584	broad.mit.edu	37	11	124618286	124618286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:124618286C>T	ENST00000403470.1	-	6	906	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	VSIG2_ENST00000326621.5_Splice_Site_p.R284_splice			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	284						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TCCTGCTCACCGAAGGTCACT	0.577000													10	38					0	0	6.40141e-05	0	0
LRRC16A	55604	broad.mit.edu	37	6	25600727	25600727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:25600727C>T	ENST00000329474.6	+	33	3673	c.3305C>T	c.(3304-3306)cCa>cTa	p.P1102L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1102					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTCAGAAGTCCACCTGTGGAC	0.498000													9	59					0	0	2.17888e-05	0	0
SLC13A3	64849	broad.mit.edu	37	20	45217889	45217889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:45217889C>T	ENST00000279027.4	-	7	944	c.926G>A	c.(925-927)tGg>tAg	p.W309*	SLC13A3_ENST00000413164.2_Nonsense_Mutation_p.W259*|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.W262*|SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.W262*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.W262*|SLC13A3_ENST00000372121.1_Nonsense_Mutation_p.W259*|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.W262*	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	309						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATTCTTCCTCCAGCCCCTGAA	0.493000													13	70					0	0	0.000151284	0	0
RNF17	56163	broad.mit.edu	37	13	25373588	25373588	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:25373588C>T	ENST00000255324.5	+	12	1507	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	RNF17_ENST00000381921.1_Silent_p.I485I|RNF17_ENST00000255325.5_Silent_p.I486I	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	485					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAGGAACTATCACAGAATTAA	0.323000													17	157					0	0	0.000175454	0	0
ADAM2	2515	broad.mit.edu	37	8	39606852	39606852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:39606852C>T	ENST00000265708.4	-	18	2096	c.1993G>A	c.(1993-1995)Gct>Act	p.A665T	ADAM2_ENST00000379853.2_Missense_Mutation_p.A509T|ADAM2_ENST00000521880.1_Missense_Mutation_p.A602T|ADAM2_ENST00000347580.4_Missense_Mutation_p.A646T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	665					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCTGGTATAGCTACAGGTGGA	0.343000													32	79					0	0	8.91981e-05	0	0
THBS1	7057	broad.mit.edu	37	15	39883391	39883391	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:39883391G>A	ENST00000260356.5	+	15	2418		c.e15-1			NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1						activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCTCTTTGCAGGACAACTGTC	0.433000													11	67					0	0	0.00010058	0	0
MLXIP	22877	broad.mit.edu	37	12	122622103	122622103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:122622103G>A	ENST00000319080.6	+	12	2252	c.2120G>A	c.(2119-2121)gGg>gAg	p.G707E	MLXIP_ENST00000538698.1_Missense_Mutation_p.G314E			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AACTGCTCAGGGAAATCCGAC	0.572000													16	58					0	0	9.7654e-05	0	0
AMPD1	270	broad.mit.edu	37	1	115231288	115231288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:115231288C>T	ENST00000369538.3	-	2	243	c.196G>A	c.(196-198)Gag>Aag	p.E66K	AMPD1_ENST00000353928.6_Missense_Mutation_p.E37K|AMPD1_ENST00000520113.2_Missense_Mutation_p.E70K	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	37					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	GGGGAAATCTCCTGACGACCT	0.433000													24	76					0	0	5.49717e-05	0	0
SLC24A2	25769	broad.mit.edu	37	9	19573379	19573379	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:19573379G>A	ENST00000341998.2	-	6	1378	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	SLC24A2_ENST00000286344.3_Silent_p.L422L	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	439					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TGTTGTGGGAGAGATTTCCAT	0.443000													9	63					0	0	0.000274275	0	0
BCHE	590	broad.mit.edu	37	3	165548085	165548085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:165548085G>A	ENST00000264381.3	-	2	903	c.737C>T	c.(736-738)aCc>aTc	p.T246I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	246					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATGGCTCTGGTGAACAATGA	0.433000													8	96					0	0	0.000274275	0	0
SMIM21	284274	broad.mit.edu	37	18	73130777	73130777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:73130777G>A	ENST00000584508.1	-	2	342	c.224C>T	c.(223-225)tCt>tTt	p.S75F	SMIM21_ENST00000579022.1_Missense_Mutation_p.S75F|SMIM21_ENST00000382638.3_Intron|RP11-321M21.3_ENST00000578340.1_Silent_p.Q57Q|RP11-321M21.3_ENST00000579386.1_3'UTR					small integral membrane protein 21																		ccagtcttcagaaaccccttg	0.358000													19	133					0	0	9.22233e-05	0	0
RMND1	55005	broad.mit.edu	37	6	151738425	151738425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:151738425G>A	ENST00000367303.4	-	10	1311	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	RMND1_ENST00000336451.3_Nonsense_Mutation_p.R186*	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	397										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TTAACTCTTCGGCCAATGCTA	0.383000													6	102					0	0	3.59834e-05	0	0
CYLC1	1538	broad.mit.edu	37	X	83128355	83128355	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:83128355C>T	ENST00000329312.4	+	4	676	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	213					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						ACACTGAATTCCTACATACAA	0.303000													5	15					0	0	1.23904e-05	0	0
KALRN	8997	broad.mit.edu	37	3	124438240	124438240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:124438240C>T	ENST00000360013.3	+	60	9011	c.8884C>T	c.(8884-8886)Cgc>Tgc	p.R2962C	KALRN_ENST00000291478.4_Missense_Mutation_p.R1265C|KALRN_ENST00000428018.2_Missense_Mutation_p.R1233C	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2961					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CATAGAACGTCGCAAGCACCA	0.547000													9	34					0	0	6.40141e-05	0	0
DNAH7	56171	broad.mit.edu	37	2	196602738	196602738	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:196602738C>T	ENST00000312428.6	-	65	12082	c.11982G>A	c.(11980-11982)acG>acA	p.T3994T	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Silent_p.T477T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3994					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCACAAAATTCGTGGAATGGC	0.453000													11	38					0	0	6.40141e-05	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189177	26189177	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:26189177C>A	ENST00000340756.2	-	1	127	c.128G>T	c.(127-129)gGc>gTc	p.G43V		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	43					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				ACGCTTGACGCCGCCGCGGCG	0.552000													14	37					9.31168e-06	0.000226943	0.000151284	1	0
ZNF200	7752	broad.mit.edu	37	16	3274343	3274343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:3274343C>T	ENST00000431561.3	-	5	1349	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	ZNF200_ENST00000414144.2_Missense_Mutation_p.R246Q|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245Q|ZNF200_ENST00000396870.4_Missense_Mutation_p.R245Q|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245Q|ZNF200_ENST00000575948.1_Missense_Mutation_p.R245Q	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CCTTGTCCTCCGATTTCGAGT	0.413000													20	89					0	0	0.000175454	0	0
OR4X2	119764	broad.mit.edu	37	11	48267210	48267210	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:48267210C>T	ENST00000302329.3	+	1	603	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGACACCTTCCTCATTGGTC	0.483000													36	181					0	0	0.000159656	0	0
TTN	7273	broad.mit.edu	37	2	179604839	179604839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:179604839C>T	ENST00000589042.1	-	48	13345	c.13121G>A	c.(13120-13122)gGa>gAa	p.G4374E	TTN_ENST00000591111.1_Missense_Mutation_p.G4057E|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G4203E|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.G4011E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G4136E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4057	Ig-like 23.						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)			AAGGTCCCTTCCCTGTACCTC	0.468000													13	49					0	0	0.00010058	0	0
ATG9B	285973	broad.mit.edu	37	7	150720577	150720577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:150720577C>T	ENST00000605938.1	-	3	689	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	ATG9B_ENST00000377974.2_Missense_Mutation_p.R205Q|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Missense_Mutation_p.R205Q	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	205					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAGCCATTCCGCTGGTGGTA	0.632000													4	8					0	0	0.00024832	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146129	31146129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:31146129G>A	ENST00000304166.4	+	16	1527	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.R469Q|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.R441Q|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.R392Q	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	413					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GAGATCAAGCGAAAATGGCGA	0.612000													10	21					0	0	3.86212e-05	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092272	30092272	+	RNA	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:30092272G>A	ENST00000567636.1	+	0	647					NR_003558.1																						TTTGATCCAGGAAATTCCACT	0.483000													5	17					0	0	1.23904e-05	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31729600	31729600	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:31729600G>T	ENST00000493662.2	+	23	2294	c.2238G>T	c.(2236-2238)atG>atT	p.M746I	MSH5_ENST00000375750.3_Missense_Mutation_p.M729I|MSH5_ENST00000375742.3_Missense_Mutation_p.M746I|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000534153.4_Missense_Mutation_p.M746I|MSH5_ENST00000395853.1_Missense_Mutation_p.M403I|MSH5_ENST00000375703.3_Missense_Mutation_p.M730I|MSH5_ENST00000375740.3_Missense_Mutation_p.M747I|MSH5_ENST00000431848.2_Missense_Mutation_p.M428I|MSH5_ENST00000375755.3_Missense_Mutation_p.M729I																							TTAAGACCATGGAGACCTGTG	0.522000													9	436					0.000274275	0.0065655	0.000274275	1	0
NLRC4	58484	broad.mit.edu	37	2	32475632	32475632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:32475632C>T	ENST00000404025.2	-	5	1789	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K	NLRC4_ENST00000360906.5_Missense_Mutation_p.R434K|NLRC4_ENST00000402280.1_Missense_Mutation_p.R434K|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	434	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGGCTTGAACCTTTGAGCTGT	0.463000													9	35					0	0	0.000274275	0	0
QSER1	79832	broad.mit.edu	37	11	32954688	32954688	+	Silent	SNP	C	C	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:32954688C>A	ENST00000399302.2	+	4	1832	c.1497C>A	c.(1495-1497)tcC>tcA	p.S499S	QSER1_ENST00000527788.1_Silent_p.S260S	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	499	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGCATTCTTCCCAAAATGTTC	0.438000													16	62					2.32078e-09	5.66904e-08	0.000308642	1	0
FAM21EP	100421577	broad.mit.edu	37	10	51818942	51818942	+	RNA	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:51818942G>A	ENST00000456967.1	-	0	1488					NR_038275.1																						AGGCCAGTGGGAGGGGGAAGG	0.537000													5	14					0	0	1.23904e-05	0	0
PIGW	284098	broad.mit.edu	37	17	34894104	34894104	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:34894104T>C	ENST00000592983.1	+	2	1734	c.1154T>C	c.(1153-1155)cTt>cCt	p.L385P	PIGW_ENST00000328396.2_Missense_Mutation_p.L385P|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	385					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGATCCTTCTTAGTAGTTTA	0.343000													12	69					0	0	6.40141e-05	0	0
LRFN5	145581	broad.mit.edu	37	14	42355964	42355964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:42355964C>T	ENST00000554171.1	+	5	2568	c.136C>T	c.(136-138)Cca>Tca	p.P46S	LRFN5_ENST00000298119.4_Missense_Mutation_p.P46S|LRFN5_ENST00000554120.1_Missense_Mutation_p.P46S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	46	LRRNT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTTATTTGTTCCACCAAACAT	0.408000										HNSCC(30;0.082)			10	32					0	0	0.00010058	0	0
MYH1	4619	broad.mit.edu	37	17	10401063	10401063	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:10401063C>T	ENST00000226207.5	-	31	4447	c.4353G>A	c.(4351-4353)agG>agA	p.R1451R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1451				R -> T (in Ref. 4; CAA27380).		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						TATCAAAGTTCCTTTGCTTTT	0.443000													13	70					0	0	0.000308642	0	0
OR4M1	441670	broad.mit.edu	37	14	20248894	20248894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:20248894G>A	ENST00000315957.4	+	1	494	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCATGAATCGACGTCTCTGC	0.522000													29	258					0	0	0.000279167	0	0
PDE1A	5136	broad.mit.edu	37	2	183066287	183066287	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:183066287C>T	ENST00000435564.1	-	10	1253		c.e10-1		PDE1A_ENST00000409365.1_Splice_Site|PDE1A_ENST00000358139.2_Splice_Site|PDE1A_ENST00000331935.6_Splice_Site|PDE1A_ENST00000351439.5_Splice_Site|PDE1A_ENST00000410103.1_Splice_Site|PDE1A_ENST00000536095.1_Splice_Site|PDE1A_ENST00000346717.4_Splice_Site|PDE1A_ENST00000456212.1_Splice_Site	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent						activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCTGTCAATCCTGTCAAACCA	0.443000													13	68					0	0	0.000422831	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201765	21201765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:21201765G>A	ENST00000342679.4	+	2	339	c.90G>A	c.(88-90)atG>atA	p.M30I	MAP2K3_ENST00000316920.6_Start_Codon_SNP_p.M1I|MAP2K3_ENST00000361818.5_Start_Codon_SNP_p.M1I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	30					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TATCCTGCATGTCCAAGCCAC	0.552000													16	170					0	0	7.07596e-05	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55048179	55048179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:55048179C>T	ENST00000335056.3	+	5	784	c.746C>T	c.(745-747)tCa>tTa	p.S249L	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TCTGAAATCTCATTTGACCAG	0.512000											OREG0003665	type=REGULATORY REGION|Gene=BC033195|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	49					0	0	0.000422831	0	0
CPNE5	57699	broad.mit.edu	37	6	36759867	36759867	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:36759867G>A	ENST00000244751.2	-	8	1095	c.471C>T	c.(469-471)gtC>gtT	p.V157V		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	157	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTTTCCTGGGACACCACTGG	0.567000													13	49					0	0	0.000422831	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	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				21	78					0	0	0.000375601	0	0
CXorf22	170063	broad.mit.edu	37	X	35971731	35971731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:35971731G>A	ENST00000297866.5	+	7	1135	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	357										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGGTAAAAAGGATATTGGACC	0.333000													14	34					0	0	7.07596e-05	0	0
OR4C6	219432	broad.mit.edu	37	11	55433174	55433174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:55433174G>A	ENST00000314259.3	+	1	561	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTTTATATGTGATTTGTTTCA	0.448000													13	75					0	0	0.000151284	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833612	43833612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr21:43833612G>A	ENST00000319294.6	+	5	678	c.647G>A	c.(646-648)aGc>aAc	p.S216N	UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	216						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCCTTCGTGAGCCACTACATC	0.488000													12	57					0	0	0.000151284	0	0
TTLL9	164395	broad.mit.edu	37	20	30486300	30486300	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:30486300C>T	ENST00000375938.4	+	4	391	c.138C>T	c.(136-138)ttC>ttT	p.F46F	TTLL9_ENST00000375934.4_Silent_p.F28F|TTLL9_ENST00000375921.2_5'UTR|TTLL9_ENST00000375922.4_5'UTR|TTLL9_ENST00000310998.4_5'UTR|TTLL9_ENST00000535842.1_Silent_p.F46F			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	46	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGATCCGGTTCAAGACCACCC	0.527000													15	61					0	0	0.000132079	0	0
COL7A1	1294	broad.mit.edu	37	3	48623609	48623609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:48623609C>T	ENST00000328333.8	-	27	3728	c.3621G>A	c.(3619-3621)atG>atA	p.M1207I	COL7A1_ENST00000454817.1_Missense_Mutation_p.M1207I	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1207	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGACAGAGTCCATACCCGGCG	0.602000													18	66					0	0	5.01169e-05	0	0
PROS1	5627	broad.mit.edu	37	3	93615439	93615439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:93615439G>A	ENST00000394236.3	-	9	1262	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	PROS1_ENST00000407433.1_Missense_Mutation_p.R185C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	316	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R316C(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCTGGCAAACGAAATTTTAAA	0.408000													25	106					0	0	0.000147802	0	0
VPS13A	23230	broad.mit.edu	37	9	79898328	79898328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:79898328C>T	ENST00000360280.3	+	30	3436	c.3176C>T	c.(3175-3177)tCg>tTg	p.S1059L	VPS13A_ENST00000376636.3_Intron|VPS13A_ENST00000376634.4_Missense_Mutation_p.S1059L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.S1059L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1059					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAGAATTATCGTGTTTACAG	0.239000													13	46					0	0	0.00010058	0	0
TTC37	9652	broad.mit.edu	37	5	94861322	94861322	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:94861322C>A	ENST00000358746.2	-	14	1488	c.1190G>T	c.(1189-1191)cGg>cTg	p.R397L		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	397							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ACCTTTGTTCCGATAGGCCAA	0.333000													8	351					0.000274275	0.0065655	0.000274275	1	0
DNAH7	56171	broad.mit.edu	37	2	196602645	196602645	+	Nonstop_Mutation	SNP	T	T	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:196602645T>G	ENST00000312428.6	-	65	12175	c.12075A>C	c.(12073-12075)taA>taC	p.*4025Y	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Nonstop_Mutation_p.*508Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	0					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGTCTTCTGGTTATGAATTAA	0.373000													8	29					0	0	3.86212e-05	0	0
TTN	7273	broad.mit.edu	37	2	179613553	179613553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:179613553G>A	ENST00000360870.5	-	46	13796	c.13574C>T	c.(13573-13575)tCa>tTa	p.S4525L	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	655	Ig-like 25.			K -> R (in Ref. 1; CAA62189).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S4525L(1)		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)			AATGTTAGATGAATCTGATTC	0.323000													27	78					0	0	0.000147802	0	0
PENK	5179	broad.mit.edu	37	8	57353893	57353893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:57353893C>T	ENST00000314922.3	-	2	818	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	PENK_ENST00000451791.2_Missense_Mutation_p.E248K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	248					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.E248K(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GAGTAACTTTCGCCTTCTTCG	0.502000													59	94					0	0	0.000147903	0	0
BRAF	673	broad.mit.edu	37	7	140500189	140500189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:140500189G>A	ENST00000288602.6	-	7	1013	c.953C>T	c.(952-954)cCt>cTt	p.P318L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	318					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		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)	GGGTGCGGAAGGGGATGATCC	0.498000		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				22	93					0	0	0.000375601	0	0
DNAH17	8632	broad.mit.edu	37	17	76506586	76506586	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:76506586C>T	ENST00000389840.5	-	27	4228	c.4104G>A	c.(4102-4104)gtG>gtA	p.V1368V	DNAH17_ENST00000585328.1_Silent_p.V1369V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTTAAATTTCACCTAAGGGA	0.507000													8	68					0	0	0.000157383	0	0
LHX6	26468	broad.mit.edu	37	9	124967023	124967023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:124967023G>A	ENST00000340587.3	-	9	1291	c.1091C>T	c.(1090-1092)cCg>cTg	p.P364L	LHX6_ENST00000541397.2_Missense_Mutation_p.P353L|LHX6_ENST00000373754.2_Missense_Mutation_p.P335L|LHX6_ENST00000559895.1_3'UTR|LHX6_ENST00000394319.4_3'UTR|LHX6_ENST00000373755.2_3'UTR|LHX6_ENST00000482062.1_3'UTR|LHX6_ENST00000464484.2_Missense_Mutation_p.P22L	NM_199160.3	NP_954629.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	0					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						GGGCAGATGCGGAAGTGCCGG	0.677000													8	34					0	0	0.000157383	0	0
OR2M4	26245	broad.mit.edu	37	1	248403001	248403001	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:248403001C>T	ENST00000306687.1	+	1	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			CTGCTATGTTCATGTACATGA	0.522000													10	46					0	0	0.000151284	0	0
LNX2	222484	broad.mit.edu	37	13	28136618	28136618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:28136618G>A	ENST00000316334.3	-	5	1285	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	386	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GCCAGCACTCGGTCATTGCTG	0.527000													19	105					0	0	0.000375601	0	0
PTPRC	5788	broad.mit.edu	37	1	198685931	198685931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:198685931G>A	ENST00000367376.2	+	13	1577	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	PTPRC_ENST00000352140.3_Missense_Mutation_p.G421E|PTPRC_ENST00000594404.1_Missense_Mutation_p.G308E|PTPRC_ENST00000442510.2_Missense_Mutation_p.G471E|PTPRC_ENST00000348564.6_Missense_Mutation_p.G310E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	469	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAACGTAATGGAAGTGCTGCA	0.299000													11	59					0	0	0.000151284	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834175	125834175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:125834175G>A	ENST00000299308.3	+	2	238	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	77						integral to membrane		p.R77Q(1)		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)		TTCATCTACCGAGCCAGGACA	0.507000													16	62					0	0	5.01169e-05	0	0
CDH20	28316	broad.mit.edu	37	18	59221488	59221488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:59221488G>A	ENST00000262717.4	+	12	2364	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	CDH20_ENST00000538374.1_Missense_Mutation_p.E656K|CDH20_ENST00000536675.2_Missense_Mutation_p.E656K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	656					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E656Q(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGACGACGAGGAAAACATCCA	0.587000													22	93					0	0	0.000147802	0	0
VWA7	80737	broad.mit.edu	37	6	31734072	31734072	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:31734072G>A	ENST00000375686.3	-	15	2511	c.2274C>T	c.(2272-2274)gaC>gaT	p.D758D	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Silent_p.D758D	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	758						extracellular region											AAGTCCTAAGGTCAAGATCCT	0.612000													35	169					0	0	0.000159656	0	0
MUC16	94025	broad.mit.edu	37	19	9086816	9086816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:9086816C>T	ENST00000397910.4	-	1	5202	c.4999G>A	c.(4999-5001)Gaa>Aaa	p.E1667K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1667	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCTTCTTTCCAGTGCCATG	0.512000													18	53					0	0	7.07596e-05	0	0
ARMC2	84071	broad.mit.edu	37	6	109282894	109282894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:109282894G>A	ENST00000392644.4	+	14	2203	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	ARMC2_ENST00000368972.3_Missense_Mutation_p.E514K|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	679							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ATATATTGCTGAATGTAAGGT	0.353000													15	105					0	0	0.000308642	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453290	50453290	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:50453290G>A	ENST00000447370.2	-	11	2124	c.2034C>T	c.(2032-2034)ccC>ccT	p.P678P	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Silent_p.P582P	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	678					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGCCCCTCAGGGGCTGTCCTG	0.607000													5	27					0	0	1.23904e-05	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834509	101834509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:101834509C>T	ENST00000506729.1	-	1	211	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.E14K|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.E14K|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.E14K|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.E14K			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	14						integral to membrane|plasma membrane	transporter activity	p.E14K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTTGAGACTTCATCCTGGCTC	0.687000													24	102					0	0	0.000147802	0	0
SAMSN1	64092	broad.mit.edu	37	21	15889352	15889352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr21:15889352C>T	ENST00000285670.2	-	4	518	c.344G>A	c.(343-345)gGa>gAa	p.G115E	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.G47E	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	47					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGTGGGATCTCCTTCATGTGC	0.323000													5	39					0	0	3.59834e-05	0	0
BTNL2	56244	broad.mit.edu	37	6	32362724	32362724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:32362724C>T	ENST00000454136.3	-	6	1161	c.1157G>A	c.(1156-1158)tGg>tAg	p.W386*	BTNL2_ENST00000374993.1_Nonsense_Mutation_p.W386*|BTNL2_ENST00000374995.3_Nonsense_Mutation_p.W292*|BTNL2_ENST00000540315.1_Nonsense_Mutation_p.W176*|BTNL2_ENST00000414363.1_Nonsense_Mutation_p.W176*|BTNL2_ENST00000544175.1_Nonsense_Mutation_p.W109*|BTNL2_ENST00000429232.2_3'UTR			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	386						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CTGTGGGAACCACCCATCTGA	0.572000													17	138					0	0	0.000175454	0	0
SETD5	55209	broad.mit.edu	37	3	9486919	9486919	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:9486919G>T	ENST00000402466.1	+	13	1849	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*	SETD5_ENST00000302463.6_Nonsense_Mutation_p.E361*|SETD5_ENST00000406341.1_Nonsense_Mutation_p.E459*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.E478*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.E459*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	459	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGAGGCTTCAGAGGAGAATAA	0.478000													5	21					1.23904e-05	0.000301294	1.23904e-05	1	0
HEPH	9843	broad.mit.edu	37	X	65411988	65411988	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:65411988C>T	ENST00000519389.1	+	7	1421	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	HEPH_ENST00000441993.2_Silent_p.L363L|HEPH_ENST00000343002.2_Silent_p.L360L|HEPH_ENST00000336279.5_Silent_p.L93L|HEPH_ENST00000374727.3_Silent_p.L363L|HEPH_ENST00000419594.1_Silent_p.L363L			Q9BQS7	HEPH_HUMAN	hephaestin	360	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGCAGGCACTCTACAAGGTCA	0.488000													9	14					0	0	6.40141e-05	0	0
TCEAL5	340543	broad.mit.edu	37	X	102528897	102528897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:102528897C>T	ENST00000372680.1	-	3	889	c.595G>A	c.(595-597)Gac>Aac	p.D199N		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCTTCTAAGTCTTTCTGGCCC	0.507000													17	27					0	0	0.000422831	0	0
MTHFD1	4522	broad.mit.edu	37	14	64909105	64909105	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:64909105C>T	ENST00000555709.1	+	21	2508	c.2121C>T	c.(2119-2121)caC>caT	p.H707H	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.7_Silent_p.H763H|MTHFD1_ENST00000545908.1_Silent_p.H763H	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	707	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCAAGATGCACGGGGGCGGCC	0.522000													8	52					0	0	0.000157383	0	0
OPN5	221391	broad.mit.edu	37	6	47754302	47754302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:47754302G>A	ENST00000489301.2	+	2	267	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	OPN5_ENST00000371211.2_Missense_Mutation_p.R61Q|OPN5_ENST00000393699.2_Missense_Mutation_p.R61Q			Q6U736	OPN5_HUMAN	opsin 5	61					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCTTCTAGACGAAAGAAGAAG	0.378000													18	60					0	0	7.07596e-05	0	0
OR2T2	401992	broad.mit.edu	37	1	248616437	248616437	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:248616437C>T	ENST00000342927.3	+	1	361	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			GAGGGGAATTCTTCCTGCTGG	0.542000													11	133					0	0	0.000151284	0	0
PARP2	10038	broad.mit.edu	37	14	20815040	20815040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:20815040G>A	ENST00000527915.1	+	4	336	c.331G>A	c.(331-333)Gga>Aga	p.G111R	RP11-203M5.2_ENST00000528210.1_RNA|PARP2_ENST00000250416.5_Missense_Mutation_p.G111R|PARP2_ENST00000429687.3_Missense_Mutation_p.G98R			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	111					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GTATTGTGAAGGAAATGATGT	0.363000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					14	94					0	0	0.000308642	0	0
OR2G6	391211	broad.mit.edu	37	1	248685402	248685402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:248685402G>A	ENST00000343414.4	+	1	487	c.455G>A	c.(454-456)gGc>gAc	p.G152D		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGCTCAGCGGCCTCATCACC	0.577000													7	41					0	0	8.12818e-05	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49971807	49971807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:49971807C>T	ENST00000293350.4	+	15	2271	c.2108C>T	c.(2107-2109)gCc>gTc	p.A703V	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.A538V|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.A540V|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.A652V	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	703							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCTCTGCTGGCCCTGGAGGTC	0.662000													21	92					0	0	0.000295444	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449924	105449924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:105449924G>A	ENST00000337685.2	+	5	1284	c.499G>A	c.(499-501)Gat>Aat	p.D167N	MUM1L1_ENST00000372552.1_Missense_Mutation_p.D167N|MUM1L1_ENST00000357175.2_Missense_Mutation_p.D167N	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	167										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTGTATGATGATAAATCACA	0.433000													8	13					0	0	0.000157383	0	0
KCNMA1	3778	broad.mit.edu	37	10	78674772	78674772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:78674772C>T	ENST00000286627.5	-	23	3716	c.2764G>A	c.(2764-2766)Gat>Aat	p.D922N	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D983N|RP11-443A13.5_ENST00000426234.1_RNA|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D984N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D922N|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D922N|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D963N|KCNMA1_ENST00000286628.8_Missense_Mutation_p.D980N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D980N	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	980					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)	GGGCTGTTATCTGGAGAGGAT	0.463000													20	101					0	0	0.000175454	0	0
PGLS	25796	broad.mit.edu	37	19	17628187	17628187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:17628187C>T	ENST00000252603.2	+	3	531	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S		NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	163						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						CCCAGACCACCCCCTCCTACA	0.637000													17	70					0	0	5.01169e-05	0	0
BPIFB3	359710	broad.mit.edu	37	20	31644399	31644399	+	Missense_Mutation	SNP	C	C	T	rs112217883	byFrequency	TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:31644399C>T	ENST00000375494.3	+	2	176	c.176C>T	c.(175-177)tCg>tTg	p.S59L		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	59	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GTGCTGGGATCGGTCACAGCT	0.597000													10	74					0	0	6.40141e-05	0	0
TTN	7273	broad.mit.edu	37	2	179615864	179615864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:179615864C>T	ENST00000360870.5	-	46	11485	c.11263G>A	c.(11263-11265)Gat>Aat	p.D3755N	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9599							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)			TCAGCTAGATCAGACATAGAT	0.353000													20	55					0	0	0.000175454	0	0
NPC1	4864	broad.mit.edu	37	18	21121367	21121367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:21121367G>A	ENST00000269228.5	-	15	2830	c.2276C>T	c.(2275-2277)aCc>aTc	p.T759I	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.T441I	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	759	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAGAGAGAAGGTGTGCACGGC	0.512000													16	29					0	0	5.01169e-05	0	0
OR8I2	120586	broad.mit.edu	37	11	55860825	55860825	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:55860825C>T	ENST00000302124.2	+	1	73	c.42C>T	c.(40-42)ctC>ctT	p.L14L	OR8I2_ENST00000560768.1_Silent_p.L14L			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCTTCATCCTCTCTGGATTTG	0.398000													23	136					0	0	7.16444e-05	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247165	142247165	+	RNA	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:142247165C>T	ENST00000390361.3	-	0	340																											TGCGCTGGATCTTCAGAGTAG	0.552000													19	42					0	0	0.000132079	0	0
MUC16	94025	broad.mit.edu	37	19	9065737	9065737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:9065737G>A	ENST00000397910.4	-	3	21912	c.21709C>T	c.(21709-21711)Cag>Tag	p.Q7237*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7239	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTCTTTCTGAATTCTGCTA	0.468000													33	169					0	0	0.000409698	0	0
CSMD1	64478	broad.mit.edu	37	8	3256965	3256965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:3256965C>T	ENST00000520002.1	-	17	2911	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	CSMD1_ENST00000537824.1_Missense_Mutation_p.E785K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E786K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E786K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E785K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E786K|CSMD1_ENST00000539096.1_Missense_Mutation_p.E785K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	786	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTATCCATTCACAATGTAAA	0.408000													11	100					0	0	6.40141e-05	0	0
SLC38A2	54407	broad.mit.edu	37	12	46765012	46765012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:46765012G>A	ENST00000256689.5	-	2	509	c.65C>T	c.(64-66)tCc>tTc	p.S22F	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	22	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GTCGCTGTTGGAACTGTAGCT	0.507000													28	122					0	0	0.000279167	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560016	44560016	+	Silent	SNP	A	A	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:44560016A>G	ENST00000332567.4	-	1	1972	c.1620T>C	c.(1618-1620)aaT>aaC	p.N540N	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	540	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGCGTCCGGATTGTTTCTAA	0.602000													8	75					0	0	0.000157383	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14852064	14852064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:14852064G>A	ENST00000358984.4	+	36	3944	c.3764G>A	c.(3763-3765)aGa>aAa	p.R1255K		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1340										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GATGATCTAAGAGAAAATGCA	0.348000													4	15					0	0	0.00024832	0	0
TTC29	83894	broad.mit.edu	37	4	147824778	147824778	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:147824778C>T	ENST00000513335.1	-	7	781	c.582G>A	c.(580-582)aaG>aaA	p.K194K	TTC29_ENST00000398886.4_Silent_p.K194K|TTC29_ENST00000325106.4_Silent_p.K168K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	168							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCTGAGCAATCTTAAAACATC	0.428000													5	28					0	0	1.23904e-05	0	0
RIT1	6016	broad.mit.edu	37	1	155874167	155874167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:155874167G>A	ENST00000368323.3	-	5	568	c.364C>T	c.(364-366)Cga>Tga	p.R122*	RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000539040.1_Nonsense_Mutation_p.R86*|RIT1_ENST00000368322.3_Nonsense_Mutation_p.R139*	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	122					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TCAGTACGTCGGACTCGATAA	0.418000													8	60					0	0	0.000274275	0	0
PCF11	51585	broad.mit.edu	37	11	82868661	82868661	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:82868661C>T	ENST00000298281.4	+	1	632	c.180C>T	c.(178-180)gcC>gcT	p.A60A		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	60	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCATCGAGGCCCAAACCGCCA	0.512000													10	96					0	0	6.40141e-05	0	0
LOXL1	4016	broad.mit.edu	37	15	74219544	74219544	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:74219544C>T	ENST00000261921.7	+	1	746	c.420C>T	c.(418-420)gcC>gcT	p.A140A	LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	140					protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CGGGCATGGCCCGGGCCCGCA	0.741000													4	15					0	0	1.23904e-05	0	0
CYYR1	116159	broad.mit.edu	37	21	27852714	27852714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr21:27852714C>T	ENST00000299340.4	-	3	554	c.211G>A	c.(211-213)Gta>Ata	p.V71I	CYYR1_ENST00000435845.2_3'UTR|CYYR1_ENST00000400043.3_Missense_Mutation_p.V71I|AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	71						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ATGATAAATACTATTCCAAAA	0.448000													13	77					0	0	0.000308642	0	0
PYHIN1	149628	broad.mit.edu	37	1	158906920	158906920	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:158906920A>G	ENST00000368140.1	+	2	465	c.220A>G	c.(220-222)Aca>Gca	p.T74A	PYHIN1_ENST00000368138.3_Missense_Mutation_p.T74A|PYHIN1_ENST00000368135.4_Missense_Mutation_p.T74A|PYHIN1_ENST00000392252.3_Missense_Mutation_p.T74A|PYHIN1_ENST00000392254.2_Missense_Mutation_p.T74A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	74	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAAATACCAACACTGGGAGA	0.433000													8	44					0	0	0.000274275	0	0
PKD2L2	27039	broad.mit.edu	37	5	137230154	137230154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:137230154G>A	ENST00000508638.1	+	4	435	c.380G>A	c.(379-381)gGa>gAa	p.G127E	PKD2L2_ENST00000350250.4_Missense_Mutation_p.G93E|PKD2L2_ENST00000508883.1_Missense_Mutation_p.G127E|PKD2L2_ENST00000290431.5_Missense_Mutation_p.G127E|PKD2L2_ENST00000502810.1_Missense_Mutation_p.G127E	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	127						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATACTTCTAGGAGTTCCCAGA	0.383000													12	51					0	0	6.40141e-05	0	0
SWI5	375757	broad.mit.edu	37	9	131038489	131038489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:131038489C>T	ENST00000320188.4	+	1	65	c.65C>T	c.(64-66)cCc>cTc	p.P22L		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	22					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										AACCGCTGTCCCCGCCCACCT	0.657000													8	34					0	0	2.17888e-05	0	0
NRF1	4899	broad.mit.edu	37	7	129357144	129357144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:129357144C>T	ENST00000393232.1	+	9	1268	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	NRF1_ENST00000539636.1_Missense_Mutation_p.S223L|NRF1_ENST00000393230.2_Missense_Mutation_p.S384L|NRF1_ENST00000223190.4_Missense_Mutation_p.S384L|NRF1_ENST00000353868.4_Missense_Mutation_p.S318L|NRF1_ENST00000311967.2_Missense_Mutation_p.S384L|NRF1_ENST00000393231.3_Missense_Mutation_p.S384L	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	384	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GCGGTGGCATCGTTGGCAGAG	0.567000													22	46					0	0	5.49717e-05	0	0
SERTM1	400120	broad.mit.edu	37	13	37269436	37269436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:37269436C>T	ENST00000315190.3	+	2	667	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	74	Poly-Ser.					integral to membrane											TCCTCCAGTTCCTCCTACCCA	0.448000													18	108					0	0	7.07596e-05	0	0
ROBO1	6091	broad.mit.edu	37	3	79639059	79639059	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:79639059C>T	ENST00000464233.1	-	2	116	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTTTCCATTTCATCTTTGTCC	0.403000													22	86					0	0	7.16444e-05	0	0
CYB5R4	51167	broad.mit.edu	37	6	84669579	84669579	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:84669579C>T	ENST00000369681.4	+	16	1688	c.1548C>T	c.(1546-1548)atC>atT	p.I516I		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	516					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AAAATGAGATCCATAGTTTTA	0.303000													5	29					0	0	1.23904e-05	0	0
RSBN1	54665	broad.mit.edu	37	1	114340355	114340355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:114340355G>A	ENST00000261441.5	-	2	1070	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	336						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTCATAAAAGGTGTTTGTAC	0.393000													14	64					0	0	0.000308642	0	0
OR52A1	23538	broad.mit.edu	37	11	5172910	5172910	+	Silent	SNP	A	A	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:5172910A>T	ENST00000380367.1	-	2	1107	c.690T>A	c.(688-690)cgT>cgA	p.R230R	OR52A1_ENST00000328942.1_Silent_p.R230R			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGGGGCAAACGAAAAACTG	0.423000													10	51					0	0	6.40141e-05	0	0
CCDC80	151887	broad.mit.edu	37	3	112358346	112358346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:112358346G>A	ENST00000206423.3	-	2	1360	c.407C>T	c.(406-408)tCc>tTc	p.S136F	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.S136F	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	136										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGGAGAGCTGGACCCCGAAGG	0.572000													14	58					0	0	0.000219431	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277565	140277565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:140277565C>T	ENST00000458420.3	+	12	2097	c.1907C>T	c.(1906-1908)aCc>aTc	p.T636I		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	636					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCCCGGATCACCCTCCGGGGC	0.562000										HNSCC(16;0.037)			7	41					0	0	0.000157383	0	0
TTLL5	23093	broad.mit.edu	37	14	76156614	76156614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:76156614C>T	ENST00000298832.9	+	6	656	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	TTLL5_ENST00000286650.5_Missense_Mutation_p.H151Y|TTLL5_ENST00000557636.1_Missense_Mutation_p.H151Y	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	151	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAAGGCTTTTCACATCCTCCC	0.463000													11	52					0	0	6.40141e-05	0	0
MECOM	2122	broad.mit.edu	37	3	169099050	169099050	+	Silent	SNP	G	G	A	rs142755875	by1000genomes	TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:169099050G>A	ENST00000494292.1	-	2	397	c.300C>T	c.(298-300)atC>atT	p.I100I	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	100							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACCTACTTCGATCTTCCTTT	0.453000													12	92					0	0	6.40141e-05	0	0
NIPAL4	348938	broad.mit.edu	37	5	156894083	156894083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:156894083G>A	ENST00000311946.7	+	3	606	c.490G>A	c.(490-492)Gat>Aat	p.D164N	NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	164						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTACCTGAAAGATGCAATGTG	0.498000													4	29					0	0	0.00024832	0	0
SLC13A3	64849	broad.mit.edu	37	20	45217888	45217888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:45217888C>T	ENST00000279027.4	-	7	945	c.927G>A	c.(925-927)tgG>tgA	p.W309*	SLC13A3_ENST00000413164.2_Nonsense_Mutation_p.W259*|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.W262*|SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.W262*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.W262*|SLC13A3_ENST00000372121.1_Nonsense_Mutation_p.W259*|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.W262*	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	309						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TATTCTTCCTCCAGCCCCTGA	0.493000													14	70					0	0	0.000219431	0	0
FAM133B	257415	broad.mit.edu	37	7	92207462	92207462	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:92207462A>C	ENST00000438306.1	-	6	510		c.e6+1		FAM133B_ENST00000445716.1_Splice_Site|FAM133B_ENST00000427372.1_Splice_Site	NM_001040057.1	NP_001035146.1	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B											endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTTTTGCTCACCCTACCAGA	0.303000													11	41					0	0	6.40141e-05	0	0
SCN9A	6335	broad.mit.edu	37	2	167055757	167055757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:167055757C>T	ENST00000375387.4	-	27	5735	c.5395G>A	c.(5395-5397)Gag>Aag	p.E1799K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.E1799K|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1787K|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1798K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1798						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTAGAGAACTCTATAAACTGG	0.463000													21	87					0	0	0.000175454	0	0
GCNT2	2651	broad.mit.edu	37	6	10587100	10587100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:10587100C>T	ENST00000265012.4	+	1	1122	c.878C>T	c.(877-879)aCc>aTc	p.T293I	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	293						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCAAAAGATACCTATAGTCCT	0.413000													20	61					0	0	0.000295444	0	0
LAMP5	24141	broad.mit.edu	37	20	9498771	9498771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:9498771C>T	ENST00000246070.2	+	5	1052	c.560C>T	c.(559-561)aCc>aTc	p.T187I	LAMP5_ENST00000427562.2_Missense_Mutation_p.T143I	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	187						integral to membrane											GCTCAACAAACCATTTCACTG	0.522000													11	49					0	0	3.86212e-05	0	0
TLL1	7092	broad.mit.edu	37	4	166976276	166976276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:166976276G>A	ENST00000061240.2	+	13	2220	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R	TLL1_ENST00000507499.1_Missense_Mutation_p.G548R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	525	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGTTAGAGATGGAACCAGTGA	0.338000													16	66					0	0	9.7654e-05	0	0
BCL11A	53335	broad.mit.edu	37	2	60773118	60773118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:60773118C>T	ENST00000335712.6	-	2	600	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	BCL11A_ENST00000538214.1_Missense_Mutation_p.E125K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E125K|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000359629.5_Missense_Mutation_p.E125K|BCL11A_ENST00000358510.4_Missense_Mutation_p.E125K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	125	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCTATGTGTTCCTGTTTGGGG	0.443000			T	IGH@	B-CLL								69	290					0	0	0.000147903	0	0
MACF1	23499	broad.mit.edu	37	1	39801578	39801578	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:39801578C>T	ENST00000564288.1	+	37	10095	c.9318C>T	c.(9316-9318)acC>acT	p.T3106T	MACF1_ENST00000567887.1_Silent_p.T3143T|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.T1546T|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Silent_p.T3111T|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3111					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTGTATGACCCCAAGACCTG	0.438000													14	55					0	0	0.000308642	0	0
CACNG4	27092	broad.mit.edu	37	17	65021058	65021058	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:65021058G>A	ENST00000262138.3	+	3	389	c.387G>A	c.(385-387)agG>agA	p.R129R		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	129					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GTGCTGGCAGGATCTACAGCC	0.687000													10	64					0	0	3.86212e-05	0	0
TRO	7216	broad.mit.edu	37	X	54956310	54956310	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:54956310C>T	ENST00000173898.7	+	12	3265	c.3153C>T	c.(3151-3153)ggC>ggT	p.G1051G	TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Silent_p.G582G|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.G654G|TRO_ENST00000319167.8_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1051	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTTTTGGTGGCTCTCCCAGCA	0.557000													9	16					0	0	2.17888e-05	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603716	10603716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:10603716G>A	ENST00000334534.5	+	8	1096	c.916G>A	c.(916-918)Gac>Aac	p.D306N		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		GGAAGACTTCGACCACCACGG	0.488000													23	94					0	0	7.16444e-05	0	0
ZNF98	148198	broad.mit.edu	37	19	22574608	22574608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:22574608G>A	ENST00000357774.5	-	4	1550	c.1429C>T	c.(1429-1431)Ctt>Ttt	p.L477F		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGTTTAGAAAGAGTTGAGGAC	0.368000													7	52					0	0	2.17888e-05	0	0
CSMD1	64478	broad.mit.edu	37	8	3216823	3216823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:3216823G>A	ENST00000520002.1	-	22	3713	c.3158C>T	c.(3157-3159)gCc>gTc	p.A1053V	CSMD1_ENST00000537824.1_Missense_Mutation_p.A1052V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1053V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A1053V|CSMD1_ENST00000542608.1_Missense_Mutation_p.A1052V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A1053V|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1052V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1053	Sushi 6.					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)		TCGGCTGAAGGCAGGGACTCC	0.463000													7	41					0	0	0.000157383	0	0
DYSF	8291	broad.mit.edu	37	2	71801494	71801494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:71801494G>A	ENST00000258104.3	+	30	3618	c.3341G>A	c.(3340-3342)gGg>gAg	p.G1114E	DYSF_ENST00000429174.2_Missense_Mutation_p.G1114E|DYSF_ENST00000410020.3_Missense_Mutation_p.G1132E|DYSF_ENST00000413539.2_Missense_Mutation_p.G1145E|DYSF_ENST00000409744.1_Missense_Mutation_p.G1101E|DYSF_ENST00000409651.1_Missense_Mutation_p.G1146E|DYSF_ENST00000409762.1_Missense_Mutation_p.G1131E|DYSF_ENST00000409582.3_Missense_Mutation_p.G1131E|DYSF_ENST00000409366.1_Missense_Mutation_p.G1115E|DYSF_ENST00000394120.2_Missense_Mutation_p.G1115E|DYSF_ENST00000410041.1_Missense_Mutation_p.G1132E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1114						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						GCCCTTGAGGGGGCCCTGGTA	0.642000													10	37					0	0	2.17888e-05	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995811	57995811	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:57995811G>A	ENST00000316770.2	-	1	579	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGAAGTGGTTGATTTCCTGGT	0.642000													5	30					0	0	3.59834e-05	0	0
NPSR1	387129	broad.mit.edu	37	7	34698124	34698124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:34698124G>A	ENST00000360581.1	+	1	228	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	NPSR1_ENST00000381539.3_Missense_Mutation_p.E34K|NPSR1_ENST00000381542.1_Missense_Mutation_p.E34K|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000531252.1_Missense_Mutation_p.E34K|NPSR1_ENST00000381553.3_Missense_Mutation_p.E34K|NPSR1_ENST00000359791.1_Missense_Mutation_p.E34K|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000465305.1_Missense_Mutation_p.E34K	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	34						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GACTTTTACTGAAGTGGTGGA	0.498000													24	49					0	0	0.000375601	0	0
RPL23AP82	284942	broad.mit.edu	37	22	51237496	51237496	+	RNA	SNP	C	C	T	rs145825199	byFrequency	TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr22:51237496C>T	ENST00000480246.1	+	0	746					NR_026982.1													p.R98*(1)									GGCATATGTTCGACTTGCTCC	0.433000													23	100					0	0	0.000295444	0	0
OR5P2	120065	broad.mit.edu	37	11	7817774	7817774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:7817774G>A	ENST00000329434.2	-	1	746	c.716C>T	c.(715-717)tCc>tTc	p.S239F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTGAGGTGGGAAGTGCAGGT	0.498000													15	85					0	0	5.01169e-05	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650696	232650696	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:232650696G>A	ENST00000366630.1	-	2	748	c.390C>T	c.(388-390)ctC>ctT	p.L130L	SIPA1L2_ENST00000262861.4_Silent_p.L130L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	130					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGTCCAGATCGAGCTGTTCAT	0.507000													19	116					0	0	0.000132079	0	0
NELL1	4745	broad.mit.edu	37	11	20699480	20699480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:20699480G>A	ENST00000298925.5	+	3	295	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	NELL1_ENST00000325319.5_Missense_Mutation_p.V20M|NELL1_ENST00000357134.5_Missense_Mutation_p.V20M|NELL1_ENST00000532434.1_Missense_Mutation_p.V20M			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	20					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTTTCCAGTGGTGGGCTTTGG	0.502000													10	59					0	0	6.40141e-05	0	0
AKAP3	10566	broad.mit.edu	37	12	4735856	4735856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:4735856G>A	ENST00000545990.2	-	5	2736	c.2212C>T	c.(2212-2214)Cat>Tat	p.H738Y	AKAP3_ENST00000228850.1_Missense_Mutation_p.H738Y	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	738					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ATTTCATTATGGATAGCTTGA	0.502000													10	56					0	0	2.17888e-05	0	0
CYTIP	9595	broad.mit.edu	37	2	158300366	158300366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:158300366C>T	ENST00000264192.3	-	1	288	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	56					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TACCTGCTTTCGTCCCCGAGG	0.448000													15	59					0	0	5.01169e-05	0	0
HOXB9	3219	broad.mit.edu	37	17	46700464	46700464	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:46700464G>C	ENST00000311177.5	-	2	758	c.551C>G	c.(550-552)tCt>tGt	p.S184C	HOXB9_ENST00000550387.1_Silent_p.L104L|HOXB7_ENST00000567101.1_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	184					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TTTCCGGGAAGAGCGAGCGTG	0.547000													10	98					0	0	0.00010058	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863066	10863066	+	RNA	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr21:10863066G>A	ENST00000559480.1	+	0	362																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GACACAATGTGAAAACCCACA	0.473000													8	280					0	0	0.000274275	0	0
RDH10	157506	broad.mit.edu	37	8	74235016	74235016	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:74235016C>T	ENST00000240285.5	+	5	1551	c.873C>T	c.(871-873)cgC>cgT	p.R291R	RDH10_ENST00000519380.1_Silent_p.R126R|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	291					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GCACTCCCCGCCTCATGTACA	0.517000													20	55					0	0	0.000229342	0	0
WFDC5	149708	broad.mit.edu	37	20	43738604	43738604	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:43738604C>T	ENST00000307971.4	-	4	522	c.444G>A	c.(442-444)acG>acA	p.T148T	WFDC5_ENST00000372789.4_3'UTR			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	148						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GAACTCTTTCCGTTGGTCCCC	0.542000													6	24					0	0	8.12818e-05	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846719	47846719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:47846719C>T	ENST00000339488.4	-	3	1894	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	621						integral to membrane	hedgehog receptor activity										TCTGTGATTTCTTTCTGCTTG	0.458000													32	101					0	0	0.000132358	0	0
ANO1	55107	broad.mit.edu	37	11	69933904	69933904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:69933904G>A	ENST00000355303.5	+	2	460	c.155G>A	c.(154-156)gGc>gAc	p.G52D	ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000316296.5_Missense_Mutation_p.G24D|ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000538023.1_Missense_Mutation_p.G52D	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	52					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TGCAAGTATGGCCTGTACTTC	0.587000													5	20					0	0	0.000157383	0	0
MLXIP	22877	broad.mit.edu	37	12	122622104	122622104	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:122622104G>A	ENST00000319080.6	+	12	2253	c.2121G>A	c.(2119-2121)ggG>ggA	p.G707G	MLXIP_ENST00000538698.1_Silent_p.G314G			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ACTGCTCAGGGAAATCCGACC	0.567000													17	60					0	0	0.000132079	0	0
COBL	23242	broad.mit.edu	37	7	51097008	51097008	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:51097008C>T	ENST00000395542.2	-	12	2215	c.2031G>A	c.(2029-2031)gaG>gaA	p.E677E	COBL_ENST00000265136.7_Silent_p.E595E			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	595										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CAGGTACTTCCTCCCTTGCCT	0.557000													9	34					0	0	2.17888e-05	0	0
MIR517B	574483	broad.mit.edu	37	19	54224374	54224374	+	RNA	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:54224374C>T	ENST00000385102.1	+	0	45					NR_030205.1																						AAGAAAAGATCGTGCATCCCT	0.408000													24	83					0	0	0.000147802	0	0
FANK1	92565	broad.mit.edu	37	10	127677121	127677121	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:127677121G>A	ENST00000368695.1	+	3	297	c.173_splice	c.e3-1	p.G59_splice	FANK1_ENST00000368689.1_Splice_Site_p.G59_splice|FANK1_ENST00000449042.2_Splice_Site_p.G59_splice|FANK1_ENST00000368693.1_Splice_Site_p.G65_splice	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	65	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CCTGTCTAGGGGATATGCAAC	0.498000													27	118					0	0	8.91981e-05	0	0
EVPL	2125	broad.mit.edu	37	17	74004938	74004938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:74004938C>T	ENST00000301607.3	-	22	4601	c.4348G>A	c.(4348-4350)Gag>Aag	p.E1450K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1472K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1450	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGCCGCTTCTCGAGCTCCTGG	0.637000													18	98					0	0	0.000229342	0	0
OR4C46	119749	broad.mit.edu	37	11	51515533	51515533	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:51515533C>T	ENST00000328188.1	+	1	252	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CACATTCACTCTATGGAAAGA	0.478000													19	122					0	0	0.000132079	0	0
TSSC4	10078	broad.mit.edu	37	11	2423877	2423877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:2423877G>A	ENST00000333256.6	+	3	457	c.14G>A	c.(13-15)gGa>gAa	p.G5E	TSSC4_ENST00000380996.5_Missense_Mutation_p.G5E|TSSC4_ENST00000451491.2_Missense_Mutation_p.G5E|TSSC4_ENST00000380992.1_Missense_Mutation_p.G5E			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	5										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGAGGCAGGAACAGGTGAG	0.582000													20	117					0	0	0.000132079	0	0
PCSK5	5125	broad.mit.edu	37	9	78771975	78771975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:78771975G>A	ENST00000545128.1	+	11	1865	c.1327G>A	c.(1327-1329)Gga>Aga	p.G443R	PCSK5_ENST00000376752.4_Missense_Mutation_p.G443R|PCSK5_ENST00000376767.3_Missense_Mutation_p.G443R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	443	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCATCTTTATGGATTTGGACT	0.522000													23	84					0	0	0.000117367	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967642	161967642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:161967642C>T	ENST00000294794.3	-	6	1870	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	OLFML2B_ENST00000367940.2_Missense_Mutation_p.E484K	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	483										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCATCTTCTTCTTCGGGGCTC	0.547000													24	162					0	0	0.000184323	0	0
SLC9A9	285195	broad.mit.edu	37	3	143371161	143371161	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:143371161C>G	ENST00000316549.6	-	6	899	c.691G>C	c.(691-693)Gac>Cac	p.D231H		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	231					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						GTGTACAGGTCAGGGTCGACG	0.458000													3	11					0	0	6.4e-05	0	0
CELF5	60680	broad.mit.edu	37	19	3275934	3275934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:3275934G>A	ENST00000541430.2	+	4	511	c.475G>A	c.(475-477)Gtc>Atc	p.V159I	CELF5_ENST00000292672.2_Missense_Mutation_p.V159I	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	159	RRM 2.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCCCTTCGGGGTCATTGACGA	0.697000													4	17					0	0	3.59834e-05	0	0
MYBPH	4608	broad.mit.edu	37	1	203143595	203143595	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:203143595G>A	ENST00000255416.4	-	3	528	c.471C>T	c.(469-471)gcC>gcT	p.A157A		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	157	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGTCCAGCATGGCCGGCGGGC	0.587000													6	43					0	0	0.000274275	0	0
ZNF570	148268	broad.mit.edu	37	19	37975975	37975975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:37975975C>T	ENST00000330173.1	+	5	1980	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	ZNF570_ENST00000586475.1_Missense_Mutation_p.S540F|ZNF570_ENST00000388801.3_Missense_Mutation_p.S281F	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACTGTGGATCCCTTGCCCAA	0.433000													10	68					0	0	2.17888e-05	0	0
OR4K1	79544	broad.mit.edu	37	14	20404405	20404405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:20404405G>A	ENST00000285600.4	+	1	639	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGATACATATGAAATGGAAAT	0.443000													17	160					0	0	7.07596e-05	0	0
COL1A1	1277	broad.mit.edu	37	17	48271394	48271394	+	Silent	SNP	G	G	A	rs74315120		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:48271394G>A	ENST00000225964.5	-	25	1795	c.1677C>T	c.(1675-1677)gcC>gcT	p.A559A		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	559	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CATCTTGACCGGCGGGACCCT	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						10	58					0	0	0.00010058	0	0
MYH14	79784	broad.mit.edu	37	19	50774791	50774791	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:50774791C>T	ENST00000440075.2	+	25	3206	c.3159C>T	c.(3157-3159)tcC>tcT	p.S1053S	MYH14_ENST00000598205.1_Silent_p.S1020S|MYH14_ENST00000601313.1_Silent_p.S1053S|MYH14_ENST00000596571.1_Silent_p.S1012S|MYH14_ENST00000376970.2_Silent_p.S1045S|MYH14_ENST00000425460.1_Silent_p.S1020S|MYH14_ENST00000262269.8_Silent_p.S1053S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1012					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACCAGAATTCCAAGCTGAGCA	0.552000													3	9					0	0	0.00024832	0	0
KRT78	196374	broad.mit.edu	37	12	53240070	53240070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:53240070C>T	ENST00000359499.4	-	4	348	c.337G>A	c.(337-339)Gat>Aat	p.D113N	KRT78_ENST00000304620.4_Missense_Mutation_p.D223N			Q8N1N4	K2C78_HUMAN	keratin 78	223	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AAAACCCCATCCACATCCTGG	0.517000													5	40					0	0	8.12818e-05	0	0
GLRB	2743	broad.mit.edu	37	4	158091772	158091772	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:158091772G>A	ENST00000264428.4	+	10	1656	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	GLRB_ENST00000512619.1_3'UTR|GLRB_ENST00000541722.1_3'UTR|GLRB_ENST00000509282.1_Silent_p.A462A	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	462					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTCCCCCTGCGAAACCTGTTA	0.383000													19	74					0	0	0.000132079	0	0
OR5M10	390167	broad.mit.edu	37	11	56345140	56345140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:56345140C>T	ENST00000526812.2	-	1	123	c.58G>A	c.(58-60)Gac>Aac	p.D20N		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AGCACTGGGTCGTCTGTCAGT	0.458000													11	82					0	0	6.40141e-05	0	0
RASSF3	283349	broad.mit.edu	37	12	65004498	65004498	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:65004498A>G	ENST00000542104.1	+	1	206	c.86A>G	c.(85-87)cAg>cGg	p.Q29R	RASSF3_ENST00000336061.2_Missense_Mutation_p.Q29R|RASSF3_ENST00000540088.1_3'UTR	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	29					signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		AGAGCGCCCCAGGGCAAGCCC	0.721000													4	28					0	0	3.59834e-05	0	0
NTF3	4908	broad.mit.edu	37	12	5603651	5603651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:5603651G>A	ENST00000423158.3	+	2	522	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.E91K	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	91					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AATGGACACCGAACTGCTGCG	0.617000													9	48					0	0	0.000274275	0	0
PDE1B	5153	broad.mit.edu	37	12	54971043	54971043	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:54971043C>T	ENST00000243052.3	+	15	1978	c.1542C>T	c.(1540-1542)tcC>tcT	p.S514S	PDE1B_ENST00000550620.1_Silent_p.S494S|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.S473S|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	514					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ACGAGCTGTCCCCCTGTGAAG	0.557000													13	98					0	0	0.000308642	0	0
THSD7A	221981	broad.mit.edu	37	7	11450910	11450910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:11450910C>T	ENST00000423059.3	-	19	3973	c.3722G>A	c.(3721-3723)gGa>gAa	p.G1241E	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1241	TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TATTCCATTTCCACAAACTGC	0.403000										HNSCC(18;0.044)			13	75					0	0	0.000219431	0	0
FAM221A	340277	broad.mit.edu	37	7	23731110	23731110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:23731110C>T	ENST00000344962.4	+	4	621	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	FAM221A_ENST00000409192.3_Nonsense_Mutation_p.Q178*|FAM221A_ENST00000409653.1_Nonsense_Mutation_p.Q120*|FAM221A_ENST00000409994.3_Nonsense_Mutation_p.Q120*	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	178																	AAGATTGGCTCAGGAAAAACC	0.493000													23	120					0	0	0.000375601	0	0
NEU1	4758	broad.mit.edu	37	6	31828391	31828391	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:31828391C>A	ENST00000375631.4	-	4	752	c.623G>T	c.(622-624)cGg>cTg	p.R208L		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	208						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CCGTGGCTCCCGCTGTTTCTG	0.602000													7	201					8.12818e-05	0.00196761	8.12818e-05	1	0
BAIAP2	10458	broad.mit.edu	37	17	79060261	79060261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:79060261C>T	ENST00000321300.6	+	6	463	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	BAIAP2_ENST00000428708.2_Nonsense_Mutation_p.Q124*|BAIAP2_ENST00000392411.3_Nonsense_Mutation_p.Q46*|BAIAP2_ENST00000575712.1_Nonsense_Mutation_p.Q124*|BAIAP2_ENST00000321280.7_Nonsense_Mutation_p.Q124*|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000435091.3_Nonsense_Mutation_p.Q124*|BAIAP2_ENST00000575245.1_Nonsense_Mutation_p.Q157*	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	124	IMD.				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)			GAAGAAATACCAGACTGAGCA	0.532000													13	103					0	0	0.00010058	0	0
ANO4	121601	broad.mit.edu	37	12	101477520	101477520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:101477520G>A	ENST00000392979.3	+	15	1716	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E	ANO4_ENST00000299222.9_Intron|ANO4_ENST00000550015.1_Intron|ANO4_ENST00000392977.3_Missense_Mutation_p.G487E	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	487						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCAATTTCTGGAAAGCCAGAA	0.348000										HNSCC(74;0.22)			17	84					0	0	0.000422831	0	0
NLRC4	58484	broad.mit.edu	37	2	32475631	32475631	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:32475631C>T	ENST00000404025.2	-	5	1790	c.1302G>A	c.(1300-1302)agG>agA	p.R434R	NLRC4_ENST00000360906.5_Silent_p.R434R|NLRC4_ENST00000402280.1_Silent_p.R434R|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	434	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGGCTTGAACCTTTGAGCTG	0.458000													10	35					0	0	2.17888e-05	0	0
FANK1	92565	broad.mit.edu	37	10	127677120	127677120	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:127677120G>A	ENST00000368695.1	+	3	296	c.173_splice	c.e3-1	p.T58_splice	FANK1_ENST00000368689.1_Splice_Site_p.T58_splice|FANK1_ENST00000449042.2_Splice_Site_p.T58_splice|FANK1_ENST00000368693.1_Splice_Site_p.T64_splice	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	64	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TCCTGTCTAGGGGATATGCAA	0.493000													29	118					0	0	0.000159656	0	0
DDC	1644	broad.mit.edu	37	7	50611613	50611613	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:50611613G>A	ENST00000444124.2	-	2	371	c.171C>T	c.(169-171)atC>atT	p.I57I	DDC_ENST00000380984.4_Silent_p.I57I|DDC_ENST00000357936.5_Silent_p.I57I|DDC_ENST00000431062.1_Silent_p.I57I|DDC_ENST00000426377.1_Silent_p.I57I	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	57					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CAACGTCGTTGATGATGTCCT	0.562000													14	101					0	0	0.000219431	0	0
ZNF536	9745	broad.mit.edu	37	19	31025765	31025765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:31025765G>A	ENST00000355537.3	+	3	2329	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	728					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CATTGGCGAGGAGGCTGGGAG	0.552000													24	156					0	0	5.49717e-05	0	0
GDF5	8200	broad.mit.edu	37	20	34021723	34021723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:34021723G>A	ENST00000374372.1	-	4	1993	c.1490C>T	c.(1489-1491)tCg>tTg	p.S497L	GDF5_ENST00000374369.3_Missense_Mutation_p.S497L|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	497					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCAGCCACACGACTCCACGAC	0.577000													11	54					0	0	0.00010058	0	0
TRAV10	28676	broad.mit.edu	37	14	22293998	22293998	+	RNA	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:22293998C>T	ENST00000390432.2	+	0	138																											CCCTGATCATCCTGGAGGGAA	0.448000													9	56					0	0	2.17888e-05	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231710	29231710	+	RNA	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:29231710C>T	ENST00000441381.1	+	0	181																											GATGTTTATCCAGTAATGGCA	0.408000													34	103					0	0	0.000109025	0	0
DMBT1	1755	broad.mit.edu	37	10	124339202	124339202	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:124339202G>T	ENST00000368909.3	+	10	894	c.788G>T	c.(787-789)tGg>tTg	p.W263L	DMBT1_ENST00000338354.3_Missense_Mutation_p.W263L|DMBT1_ENST00000330163.4_Missense_Mutation_p.W263L|DMBT1_ENST00000368956.2_Missense_Mutation_p.W263L|DMBT1_ENST00000368955.3_Missense_Mutation_p.W263L|DMBT1_ENST00000344338.3_Missense_Mutation_p.W263L|DMBT1_ENST00000359586.6_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	263	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATGACTACTGGGACACCAAT	0.612000													12	220					0.000308642	0.00737174	0.000308642	1	0
ANKFN1	162282	broad.mit.edu	37	17	54431374	54431374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:54431374C>T	ENST00000566473.2	+	5	577	c.577C>T	c.(577-579)Ctt>Ttt	p.L193F	ANKFN1_ENST00000318698.2_Missense_Mutation_p.L193F			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	193										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGCAAGGATTCTTCTGAGGAC	0.468000													8	51					0	0	3.86212e-05	0	0
TEX14	56155	broad.mit.edu	37	17	56682489	56682489	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:56682489C>T	ENST00000389934.3	-	11	1303	c.1184_splice	c.e11-1	p.E396_splice	TEX14_ENST00000240361.8_Splice_Site_p.E402_splice|TEX14_ENST00000349033.5_Splice_Site_p.E396_splice	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	402	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTCTGTCCTCGCTACGGAAG	0.488000													4	17					0	0	3.59834e-05	0	0
CDC27	996	broad.mit.edu	37	17	45201273	45201273	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:45201273G>A	ENST00000066544.3	-	17	2307	c.2214C>T	c.(2212-2214)ctC>ctT	p.L738L	CDC27_ENST00000446365.2_Silent_p.L677L|CDC27_ENST00000531206.1_Silent_p.L744L|CDC27_ENST00000527547.1_Silent_p.L737L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	738					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGAAGTAAACGAGGGATTCTT	0.313000													14	95					0	0	0.000422831	0	0
GPR112	139378	broad.mit.edu	37	X	135431858	135431858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:135431858G>A	ENST00000394143.1	+	6	6284	c.5993G>A	c.(5992-5994)gGa>gAa	p.G1998E	GPR112_ENST00000412101.1_Missense_Mutation_p.G1793E|GPR112_ENST00000394141.1_Missense_Mutation_p.G1793E|GPR112_ENST00000370652.1_Missense_Mutation_p.G1998E|GPR112_ENST00000287534.4_Missense_Mutation_p.G1935E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1998					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCCACTTCAGGATCTGTAATT	0.463000													32	46					0	0	0.000409698	0	0
RTFDC1	51507	broad.mit.edu	37	20	55049738	55049738	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:55049738T>C	ENST00000023939.4	+	3	276	c.169T>C	c.(169-171)Tat>Cat	p.Y57H	RTFDC1_ENST00000357348.5_Missense_Mutation_p.Y87H|RTFDC1_ENST00000395881.3_Missense_Mutation_p.Y57H	NM_016407.3	NP_057491.2			replication termination factor 2 domain containing 1																		TTGCAGACTTTATAACAAAGA	0.353000													39	176					0	0	0.000437636	0	0
DYNAP	284254	broad.mit.edu	37	18	52265273	52265273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:52265273C>T	ENST00000321600.1	+	3	576	c.530C>T	c.(529-531)tCa>tTa	p.S177L	DYNAP_ENST00000585973.1_Missense_Mutation_p.S125L	NM_173629.1	NP_775900.1			dynactin associated protein																		ACCACCACTTCAACTGTACCT	0.468000													11	59					0	0	6.40141e-05	0	0
COL4A3	1285	broad.mit.edu	37	2	228148999	228148999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:228148999G>A	ENST00000396578.3	+	34	2981	c.2819G>A	c.(2818-2820)gGa>gAa	p.G940E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	940	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAGATAAAGGAAATCCCGGG	0.498000													9	54					0	0	3.86212e-05	0	0
TP73	7161	broad.mit.edu	37	1	3599693	3599693	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:3599693G>A	ENST00000378295.4	+	3	290	c.135G>A	c.(133-135)acG>acA	p.T45T	TP73_ENST00000604074.1_Silent_p.T45T|TP73_ENST00000603362.1_Silent_p.T45T|TP73_ENST00000604479.1_Silent_p.T45T|TP73_ENST00000357733.3_Silent_p.T45T|TP73_ENST00000346387.4_Silent_p.T45T|TP73_ENST00000354437.4_Silent_p.T45T	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	45	Asp/Glu-rich (acidic).|Transactivation (By similarity).				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	p.T45T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGGGCGGAACGGATTCCAGCA	0.582000													13	66					0	0	0.000151284	0	0
CYP3A4	1576	broad.mit.edu	37	7	99366043	99366043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:99366043G>A	ENST00000354593.2	-	2	257	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S	CYP3A4_ENST00000336411.2_Missense_Mutation_p.P202S			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	202					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TCCACAAAGGGGTCTTGTGGA	0.393000													13	62					0	0	0.000219431	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821039	35821039	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:35821039C>T	ENST00000399989.1	+	2	1005	c.726C>T	c.(724-726)atC>atT	p.I242I	MAGEB16_ENST00000399985.1_Silent_p.I242I|MAGEB16_ENST00000399988.1_Silent_p.I242I|MAGEB16_ENST00000399992.1_Silent_p.I274I|MAGEB16_ENST00000399987.1_Silent_p.I242I	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	242	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGCACTTCATCTTTGGAGAGC	0.488000													11	22					0	0	3.86212e-05	0	0
GK2	2712	broad.mit.edu	37	4	80327847	80327847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:80327847C>T	ENST00000358842.3	-	1	1525	c.1508G>A	c.(1507-1509)tGg>tAg	p.W503*		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	503					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GGCTTTCTTCCATGTGGCATA	0.458000													16	78					0	0	9.7654e-05	0	0
DSCAM	1826	broad.mit.edu	37	21	41385159	41385159	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr21:41385159C>T	ENST00000400454.1	-	33	6318	c.5841G>A	c.(5839-5841)ccG>ccA	p.P1947P		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1947				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	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	p.P1947P(2)		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)				CGGCTTCCATCGGGATGGGCT	0.657000													9	34					0	0	2.17888e-05	0	0
WRAP53	55135	broad.mit.edu	37	17	7605081	7605081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:7605081G>A	ENST00000316024.5	+	6	3277	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	WRAP53_ENST00000431639.2_Missense_Mutation_p.R310Q|WRAP53_ENST00000534050.1_Missense_Mutation_p.R277Q|WRAP53_ENST00000457584.2_Missense_Mutation_p.R310Q|WRAP53_ENST00000396463.2_Missense_Mutation_p.R310Q			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	310					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CGGCCTGGCCGAGACTGCGAG	0.627000													5	21					0	0	3.59834e-05	0	0
ZNF217	7764	broad.mit.edu	37	20	52198351	52198351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:52198351C>T	ENST00000371471.2	-	2	1440	c.1015G>A	c.(1015-1017)Ggc>Agc	p.G339S	ZNF217_ENST00000302342.3_Missense_Mutation_p.G339S			O75362	ZN217_HUMAN	zinc finger protein 217	339					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCACAACTGCCCTTATTTGTT	0.537000													13	101					0	0	0.000151284	0	0
NOMO3	408050	broad.mit.edu	37	16	16355470	16355470	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:16355470C>T	ENST00000399336.4	+	12	1504	c.1332C>T	c.(1330-1332)acC>acT	p.T444T	NOMO3_ENST00000263012.6_Silent_p.T444T|NOMO3_ENST00000538468.1_Silent_p.T277T	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	444						integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTTTGGTCACCGTGGAGACAG	0.408000													22	97					0	0	0.000147802	0	0
GLB1L	79411	broad.mit.edu	37	2	220104817	220104817	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:220104817C>T	ENST00000295759.7	-	7	860		c.e7-1		GLB1L_ENST00000392089.2_Splice_Site|GLB1L_ENST00000497855.1_Intron|GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000356283.3_Intron			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCTCCACCTGCCAGAGGG	0.537000													9	35					0	0	6.40141e-05	0	0
OR6N2	81442	broad.mit.edu	37	1	158746811	158746811	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:158746811G>A	ENST00000339258.1	-	1	614	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TAAGAATTATGAAAGCATTAA	0.393000													8	35					0	0	0.000157383	0	0
ADAM18	8749	broad.mit.edu	37	8	39564371	39564371	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:39564371C>T	ENST00000265707.5	+	18	2010	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Silent_p.F631F|ADAM18_ENST00000541111.1_Silent_p.F69F	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	655					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)			ATTGTAAATTCCAGTTTGGTT	0.338000													16	153					0	0	7.07596e-05	0	0
PRRT2	112476	broad.mit.edu	37	16	29825239	29825239	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:29825239C>T	ENST00000300797.6	+	2	1038	c.864C>T	c.(862-864)ttC>ttT	p.F288F	PRRT2_ENST00000358758.7_Silent_p.F288F|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Silent_p.F288F			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	288					response to biotic stimulus	integral to membrane		p.F288F(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TCGTGGCCTTCGCTTATGCTG	0.607000													6	52					0	0	0.000274275	0	0
ZAN	7455	broad.mit.edu	37	7	100352875	100352875	+	RNA	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:100352875G>A	ENST00000542585.1	+	0	3299				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCCCGCTACGAATCCTGTGC	0.567000													20	95					0	0	0.000175454	0	0
KIAA0368	23392	broad.mit.edu	37	9	114178582	114178582	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:114178582G>A	ENST00000259335.4	-	19	2267	c.2268C>T	c.(2266-2268)gtC>gtT	p.V756V	KIAA0368_ENST00000338205.5_Silent_p.V578V	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TAAATGGAAGGACAGTGGTCC	0.378000													10	69					0	0	3.86212e-05	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971130	31971130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr21:31971130C>T	ENST00000334897.3	-	1	89	c.64G>A	c.(64-66)Ggc>Agc	p.G22S		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	22						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						TAGCCTAGGCCTTCGTATCCA	0.567000													11	71					0	0	0.000151284	0	0
UBAC2	337867	broad.mit.edu	37	13	99966405	99966405	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:99966405C>T	ENST00000376440.2	+	3	842	c.339C>T	c.(337-339)gtC>gtT	p.V113V	UBAC2_ENST00000403766.3_Silent_p.V148V|UBAC2_ENST00000460562.1_3'UTR	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	148						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TACCAAGAGTCCAAGTGGCAC	0.358000													23	130					0	0	0.000147802	0	0
MICAL2	9645	broad.mit.edu	37	11	12247799	12247799	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:12247799C>T	ENST00000256194.4	+	14	2058	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	MICAL2_ENST00000527546.1_Silent_p.I590I|MICAL2_ENST00000379612.3_Silent_p.I590I|MICAL2_ENST00000342902.5_Silent_p.I590I|MICAL2_ENST00000537344.1_Silent_p.I590I	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	590	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGTTTGGGATCCCTCCAGTGA	0.512000													22	126					0	0	0.000175454	0	0
OR5B12	390191	broad.mit.edu	37	11	58207172	58207172	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:58207172G>A	ENST00000302572.2	-	1	474	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCATTCAGGAAACCACAGA	0.463000													14	96					0	0	0.000219431	0	0
NUPL1	9818	broad.mit.edu	37	13	25881994	25881994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:25881994C>T	ENST00000463407.1	+	2	301	c.158C>T	c.(157-159)cCa>cTa	p.P53L	NUPL1_ENST00000381736.3_Missense_Mutation_p.P53L|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.P53L			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	53	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ACTTCAACTCCAGCAACTACA	0.428000													16	103					0	0	5.01169e-05	0	0
CABIN1	23523	broad.mit.edu	37	22	24487737	24487737	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr22:24487737C>T	ENST00000398319.2	+	24	4111	c.3726C>T	c.(3724-3726)gcC>gcT	p.A1242A	CABIN1_ENST00000405822.2_Silent_p.A1192A|CABIN1_ENST00000263119.5_Silent_p.A1242A	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1242					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGAGGCTGCCCGCTACCCCA	0.637000													9	58					0	0	3.86212e-05	0	0
LRP1	4035	broad.mit.edu	37	12	57574473	57574473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:57574473C>T	ENST00000243077.3	+	33	5876	c.5410C>T	c.(5410-5412)Cag>Tag	p.Q1804*		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1804					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGGGCTGATCAGGTGTCGGA	0.612000													5	34					0	0	1.23904e-05	0	0
PGAP2	27315	broad.mit.edu	37	11	3845143	3845143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:3845143G>A	ENST00000278243.4	+	4	580	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	PGAP2_ENST00000396986.2_Missense_Mutation_p.A123T|PGAP2_ENST00000463452.2_Missense_Mutation_p.A66T|PGAP2_ENST00000396993.4_Missense_Mutation_p.S19N|PGAP2_ENST00000465307.2_Missense_Mutation_p.S69N|PGAP2_ENST00000396991.2_Missense_Mutation_p.A127T|PGAP2_ENST00000493547.2_Missense_Mutation_p.A66T|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000300730.6_Missense_Mutation_p.A123T|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000479072.1_5'UTR	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	127					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GGTGAGCTCAGCCATCGGCGG	0.627000													15	67					0	0	0.000422831	0	0
KIAA0430	9665	broad.mit.edu	37	16	15716921	15716921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:15716921G>A	ENST00000396368.3	-	11	2536	c.2330C>T	c.(2329-2331)tCg>tTg	p.S777L	KIAA0430_ENST00000548025.1_Missense_Mutation_p.S774L|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S774L|KIAA0430_ENST00000344181.3_Missense_Mutation_p.S446L|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000551742.1_Missense_Mutation_p.S777L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	776						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTCGCTGCTCGAATTTGCAAT	0.443000													13	79					0	0	0.000219431	0	0
APOH	350	broad.mit.edu	37	17	64219823	64219823	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:64219823G>A	ENST00000205948.6	-	4	445	c.408C>T	c.(406-408)gtC>gtT	p.V136V		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	136	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TACGAGCACAGACAGGAAGCT	0.473000													12	76					0	0	0.000219431	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427313	38427313	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:38427313G>A	ENST00000322350.5	+	14	2359	c.2013G>A	c.(2011-2013)gtG>gtA	p.V671V	EGFLAM_ENST00000354891.3_Silent_p.V671V|EGFLAM_ENST00000336740.6_Silent_p.V437V|EGFLAM_ENST00000397202.2_Silent_p.V37V|EGFLAM-AS1_ENST00000508986.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	671	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGGGCCACGTGGAGTTCCGCT	0.522000													32	110					0	0	0.000409698	0	0
MUC16	94025	broad.mit.edu	37	19	9059445	9059445	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:9059445G>T	ENST00000397910.4	-	3	28204	c.28001C>A	c.(28000-28002)cCa>cAa	p.P9334Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9336	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCAGGGCCTGGGATGGATGT	0.493000													19	90					3.62473e-10	8.8744e-09	0.000229342	1	0
ZC2HC1A	51101	broad.mit.edu	37	8	79627485	79627485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:79627485C>T	ENST00000263849.4	+	8	836	c.734C>T	c.(733-735)cCa>cTa	p.P245L		NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	245																	AATTCCACACCACCTAGTTTG	0.388000													29	95					0	0	0.000227799	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034642	9034642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:9034642G>A	ENST00000383836.3	-	20	2933	c.2506C>T	c.(2506-2508)Cag>Tag	p.Q836*	SRGAP3_ENST00000360413.3_Nonsense_Mutation_p.Q812*	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	836					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GTGGGGGACTGGAGGTCGTTT	0.572000			T	RAF1	pilocytic astrocytoma								9	31					0	0	3.86212e-05	0	0
SLC24A3	57419	broad.mit.edu	37	20	19261711	19261711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:19261711G>A	ENST00000328041.6	+	2	448	c.251G>A	c.(250-252)aGc>aAc	p.S84N	RP5-1027G4.3_ENST00000319682.2_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	84						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCCGGAACAGCAAGAACTGC	0.537000													11	40					0	0	0.00010058	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													4	19					0	0	3.59834e-05	0	0
FADS2	9415	broad.mit.edu	37	11	61630767	61630767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:61630767C>T	ENST00000278840.4	+	9	1624	c.994C>T	c.(994-996)Cac>Tac	p.H332Y	FADS2_ENST00000522056.1_Missense_Mutation_p.H301Y|FADS2_ENST00000521849.1_Missense_Mutation_p.H332Y|FADS2_ENST00000257261.6_Missense_Mutation_p.H310Y	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	332					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CCTGGAGAGCCACTGGTTTGT	0.597000													9	56					0	0	3.86212e-05	0	0
HMMR	3161	broad.mit.edu	37	5	162911176	162911176	+	Silent	SNP	A	A	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:162911176A>G	ENST00000416990.2	+	16	2039	c.1542A>G	c.(1540-1542)ttA>ttG	p.L514L	RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Silent_p.L629L|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Silent_p.L613L|HMMR_ENST00000358715.3_Silent_p.L628L|HMMR_ENST00000432118.2_Silent_p.L542L			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	628						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		ATGCTAAATTATTGGGTCATC	0.313000													6	40					0	0	3.59834e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	40709572	40709572	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:40709572C>T	ENST00000373198.3	-	32	4574	c.4338_splice	c.e32-1	p.E1447_splice	PTPRT_ENST00000373184.1_Splice_Site_p.E1435_splice|PTPRT_ENST00000373201.1_Splice_Site_p.E1415_splice|PTPRT_ENST00000373193.3_Splice_Site_p.E1428_splice|PTPRT_ENST00000373190.1_Splice_Site_p.E1424_splice|PTPRT_ENST00000373187.1_Splice_Site_p.E1425_splice|PTPRT_ENST00000356100.2_Splice_Site_p.E1434_splice	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1425					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTATACTGTTCCTgagaggcg	0.468000													12	47					0	0	0.00010058	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954296	32954296	+	Silent	SNP	G	G	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:32954296G>C	ENST00000342179.5	+	13	1562	c.1347G>C	c.(1345-1347)gtG>gtC	p.V449V	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Silent_p.V449V|DPY19L3_ENST00000586987.1_Silent_p.V449V	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	449						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AACAATCCGTGGGTAAAATGG	0.343000													9	55					0	0	0.000274275	0	0
CR1	1378	broad.mit.edu	37	1	207680085	207680085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:207680085C>T	ENST00000367049.4	+	3	328	c.328C>T	c.(328-330)Cct>Tct	p.P110S	CR1_ENST00000367053.1_Missense_Mutation_p.P110S|CR1_ENST00000367051.1_Missense_Mutation_p.P110S|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.P110S|CR1_ENST00000367052.1_Missense_Mutation_p.P110S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	110	Sushi 2.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCTCCAGATCCTGTGAATGG	0.383000													10	66					0	0	6.40141e-05	0	0
HECA	51696	broad.mit.edu	37	6	139488178	139488178	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:139488178C>T	ENST00000367658.2	+	2	1314	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	343					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CCGTGCAGTTCCTTCGGCGGC	0.602000													10	47					0	0	0.00010058	0	0
PHF1	5252	broad.mit.edu	37	6	33382066	33382066	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:33382066A>T	ENST00000374516.3	+	9	1070	c.799A>T	c.(799-801)Aag>Tag	p.K267*	PHF1_ENST00000374512.3_Nonsense_Mutation_p.K267*	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	267					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TGTTTGCTGTAAGAAGAAATA	0.473000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	100					0	0	9.22233e-05	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449741	61449741	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:61449741C>T	ENST00000398019.2	+	2	460	c.135C>T	c.(133-135)ggC>ggT	p.G45G	SERPINB7_ENST00000540675.1_Silent_p.G45G|SERPINB7_ENST00000546027.1_Silent_p.G45G|SERPINB7_ENST00000336429.2_Silent_p.G45G	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	45					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)				TCCGCTTGGGCGCTCAAGATG	0.478000													16	89					0	0	9.7654e-05	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652070	36652070	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:36652070C>T	ENST00000405375.1	+	2	427	c.192C>T	c.(190-192)gcC>gcT	p.A64A	CDKN1A_ENST00000244741.5_Silent_p.A64A|CDKN1A_ENST00000373711.2_Silent_p.A64A|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Silent_p.A98A	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	64					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GTGACTTCGCCTGGGAGCGTG	0.677000													7	25					0	0	8.12818e-05	0	0
MED25	81857	broad.mit.edu	37	19	50333986	50333986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:50333986G>A	ENST00000312865.6	+	9	996	c.943G>A	c.(943-945)Gga>Aga	p.G315R	MED25_ENST00000538643.1_Missense_Mutation_p.G102R	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	315	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		AGCTGCTCCCGGAGTGGGTCC	0.667000													6	32					0	0	8.12818e-05	0	0
BLK	640	broad.mit.edu	37	8	11407688	11407688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:11407688G>A	ENST00000259089.4	+	6	981	c.389G>A	c.(388-390)gGt>gAt	p.G130D	BLK_ENST00000529894.1_Missense_Mutation_p.G59D	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	130	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AGATCACAGGGTCGGAAGGAG	0.537000													16	96					0	0	5.01169e-05	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49971808	49971808	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:49971808C>T	ENST00000293350.4	+	15	2272	c.2109C>T	c.(2107-2109)gcC>gcT	p.A703A	ALDH16A1_ENST00000433981.2_Silent_p.A538A|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Silent_p.A540A|ALDH16A1_ENST00000455361.2_Silent_p.A652A	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	703							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTCTGCTGGCCCTGGAGGTCT	0.657000													21	91					0	0	0.000295444	0	0
ZFAND3	60685	broad.mit.edu	37	6	38029439	38029439	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:38029439C>T	ENST00000287218.4	+	3	630	c.183C>T	c.(181-183)tcC>tcT	p.S61S	ZFAND3_ENST00000373391.2_Silent_p.S61S	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	61							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						ATTTGTTTTCCGAAGAGACCA	0.433000													12	44					0	0	0.00010058	0	0
RYR2	6262	broad.mit.edu	37	1	237947421	237947421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:237947421G>A	ENST00000366574.2	+	90	12726	c.12409G>A	c.(12409-12411)Gaa>Aaa	p.E4137K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4121K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4143K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4137					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E4135K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGCCGCATCGAAATCATGGG	0.512000													10	51					0	0	3.86212e-05	0	0
MXRA5	25878	broad.mit.edu	37	X	3238476	3238476	+	Silent	SNP	C	C	T	rs79552860		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:3238476C>T	ENST00000217939.6	-	5	5404	c.5250G>A	c.(5248-5250)caG>caA	p.Q1750Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1750						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGTGGGTATCTGGGGTCTCC	0.473000													15	17					0	0	0.000308642	0	0
CAMK2N1	55450	broad.mit.edu	37	1	20811833	20811833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:20811833G>A	ENST00000375078.3	-	1	880	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_018584.5	NP_061054.2	Q7Z7J9	CK2N1_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 1	14						cell junction|postsynaptic density|postsynaptic membrane|synaptosome				lung(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		TCGCCGTAGGGGCTCAGCTTC	0.736000													4	9					0	0	3.59834e-05	0	0
PAGE3	139793	broad.mit.edu	37	X	55290330	55290330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:55290330C>T	ENST00000374951.1	-	2	315	c.7G>A	c.(7-9)Gga>Aga	p.G3R	PAGE3_ENST00000519203.1_Missense_Mutation_p.G3R					P antigen family, member 3 (prostate associated)											endometrium(1)|kidney(1)|lung(1)	3						CTTTGATGTCCACTCATGTTT	0.373000													6	21					0	0	3.59834e-05	0	0
ENTPD2	954	broad.mit.edu	37	9	139945549	139945549	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr9:139945549C>T	ENST00000355097.2	-	5	626	c.579G>A	c.(577-579)cgG>cgA	p.R193R	ENTPD2_ENST00000312665.5_Silent_p.R193R	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	193						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGTCCCCTTCCGTGGCCGGA	0.677000													6	36					0	0	3.59834e-05	0	0
HOXA1	3198	broad.mit.edu	37	7	27134177	27134177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:27134177G>A	ENST00000343060.4	-	2	951	c.890C>T	c.(889-891)cCg>cTg	p.P297L	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	297						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CGGGGTGGCCGGAGAGATGGG	0.577000													10	46					0	0	2.17888e-05	0	0
CLEC1A	51267	broad.mit.edu	37	12	10224049	10224049	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:10224049C>T	ENST00000315330.4	-	6	788	c.726G>A	c.(724-726)ggG>ggA	p.G242G	CLEC1A_ENST00000457018.2_Silent_p.G209G|CLEC1A_ENST00000420265.2_Silent_p.G150G	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	242	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AGAAGATCATCCCATTAAGGA	0.443000													37	164					0	0	8.96297e-05	0	0
LRP2	4036	broad.mit.edu	37	2	170076975	170076975	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:170076975A>C	ENST00000263816.3	-	34	5922	c.5637T>G	c.(5635-5637)gaT>gaG	p.D1879E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1879					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)	CACGAGCAGGATCAACAGTTA	0.418000													9	41					0	0	2.17888e-05	0	0
PTPRG	5793	broad.mit.edu	37	3	62063909	62063909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr3:62063909G>A	ENST00000474889.1	+	5	969	c.592G>A	c.(592-594)Gga>Aga	p.G198R	PTPRG_ENST00000295874.10_Missense_Mutation_p.G198R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	198	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGAATAATCGGAGCCATGGC	0.313000													5	35					0	0	1.23904e-05	0	0
SYNE1	23345	broad.mit.edu	37	6	152685982	152685982	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:152685982C>T	ENST00000367255.5	-	63	10746	c.10145_splice	c.e63+1	p.S3382_splice	SYNE1_ENST00000341594.5_Splice_Site_p.R3421_splice|SYNE1_ENST00000448038.1_Splice_Site_p.S3389_splice|SYNE1_ENST00000265368.4_Splice_Site_p.S3382_splice|SYNE1_ENST00000423061.1_Splice_Site_p.S3389_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3382					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCCCTCACCTTTTACAACG	0.473000										HNSCC(10;0.0054)			7	81					0	0	0.000157383	0	0
MKRN3	7681	broad.mit.edu	37	15	23811099	23811099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:23811099C>T	ENST00000314520.3	+	1	646	c.170C>T	c.(169-171)cCc>cTc	p.P57L	MKRN3_ENST00000568252.1_Missense_Mutation_p.P57L|MKRN3_ENST00000564592.1_Missense_Mutation_p.P57L	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	57						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGCTGGGCCCCCTTCCCTGTA	0.687000													7	26					0	0	8.12818e-05	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509477	106509477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:106509477G>A	ENST00000359195.3	+	2	1781	c.1471G>A	c.(1471-1473)Gga>Aga	p.G491R	PIK3CG_ENST00000496166.1_Missense_Mutation_p.G491R|PIK3CG_ENST00000440650.2_Missense_Mutation_p.G491R	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	491					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATCTGGGAAGGGAGAAGACCA	0.483000													15	53					0	0	5.01169e-05	0	0
OR4D6	219983	broad.mit.edu	37	11	59225122	59225122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:59225122G>A	ENST00000300127.2	+	1	712	c.689G>A	c.(688-690)gGg>gAg	p.G230E		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G230V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCCCACTCTGGGGAGGGGCGG	0.562000													8	52					0	0	0.000157383	0	0
TCL6	27004	broad.mit.edu	37	14	96130014	96130014	+	RNA	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:96130014C>T	ENST00000467865.1	+	0	422				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		TTCTCCCTTTCTTTTTGGACT	0.428000			T	TRA@	T-ALL								4	33					0	0	0.00024832	0	0
FLG	2312	broad.mit.edu	37	1	152283192	152283192	+	Silent	SNP	G	G	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:152283192G>T	ENST00000368799.1	-	3	4205	c.4170C>A	c.(4168-4170)tcC>tcA	p.S1390S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1390	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTACCACTGGACCCTCGGT	0.567000									Ichthyosis				7	266					0.000274275	0.0065655	0.000274275	1	0
TRAV12-3	28672	broad.mit.edu	37	14	22433754	22433754	+	RNA	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr14:22433754G>A	ENST00000390442.3	+	0	75																											ATCCTTGAGAGTTTTACTGGT	0.358000													20	52					0	0	9.22233e-05	0	0
TG	7038	broad.mit.edu	37	8	134125827	134125827	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr8:134125827G>A	ENST00000220616.4	+	44	7774	c.7734G>A	c.(7732-7734)cgG>cgA	p.R2578R	TG_ENST00000377869.1_Silent_p.R2521R|TG_ENST00000542445.1_Silent_p.R948R|TG_ENST00000519543.1_Silent_p.R711R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2578					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTCTCCCGGGCTCTGGAGA	0.547000													7	8					0	0	0.000157383	0	0
HOXA1	3198	broad.mit.edu	37	7	27134178	27134178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:27134178G>A	ENST00000343060.4	-	2	950	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	297						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGGGTGGCCGGAGAGATGGGC	0.577000													10	49					0	0	2.17888e-05	0	0
EIF4A1	1973	broad.mit.edu	37	17	7476160	7476160	+	Translation_Start_Site	SNP	A	A	G			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:7476160A>G	ENST00000293831.8	+	1	17	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	EIF4A1_ENST00000380512.5_5'UTR|EIF4A1_ENST00000582746.1_Start_Codon_SNP_p.M1V|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Start_Codon_SNP_p.M1V	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	1					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TCTAAGGATCATGTCTGCGAG	0.627000													25	132					0	0	0.000227799	0	0
FAT3	120114	broad.mit.edu	37	11	92086290	92086290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:92086290C>T	ENST00000298047.6	+	1	1029	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	FAT3_ENST00000525166.1_Missense_Mutation_p.P188S|FAT3_ENST00000409404.2_Missense_Mutation_p.P338S|FAT3_ENST00000541502.1_Missense_Mutation_p.P338S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	338	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAGAGCTTTCCCTATGGCTA	0.453000										TCGA Ovarian(4;0.039)			75	385					0	0	0.000147903	0	0
IGF2R	3482	broad.mit.edu	37	6	160412350	160412350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:160412350C>T	ENST00000356956.1	+	2	432	c.284C>T	c.(283-285)tCa>tTa	p.S95L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	95					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACTTATCATTCAGTGGGTAAG	0.388000													11	55					0	0	0.000151284	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130602	117130602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:117130602C>T	ENST00000310357.3	-	2	394	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	GPRC6A_ENST00000368549.3_Missense_Mutation_p.E125K|GPRC6A_ENST00000530250.1_Missense_Mutation_p.E125K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	125					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCCACAGTTTCTCTGGAGCAG	0.438000													11	70					0	0	6.40141e-05	0	0
PNMA5	114824	broad.mit.edu	37	X	152159672	152159672	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:152159672C>T	ENST00000439251.1	-	2	909	c.471G>A	c.(469-471)agG>agA	p.R157R	PNMA5_ENST00000535214.1_Silent_p.R157R|PNMA5_ENST00000452693.1_Silent_p.R157R|PNMA5_ENST00000361887.5_Silent_p.R157R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	157					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCAGTTTCCTGTACCACA	0.527000													38	63					0	0	0.000228196	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994421	140994421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:140994421C>T	ENST00000285879.4	+	4	1517	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	411							protein binding	p.P411T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGATTCCTATGACCTC	0.478000										HNSCC(15;0.026)			49	77					0	0	0.000147903	0	0
DMGDH	29958	broad.mit.edu	37	5	78347223	78347223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr5:78347223G>A	ENST00000255189.3	-	5	660	c.632C>T	c.(631-633)gCc>gTc	p.A211V	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	211					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTTTAAAAGGGCACCACATTT	0.433000													20	98					0	0	9.7654e-05	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146805303	146805303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:146805303G>A	ENST00000361727.3	+	5	1131	c.615G>A	c.(613-615)atG>atA	p.M205I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	205					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)			ACAAGAAGATGAAAACACTGA	0.368000										HNSCC(39;0.1)			32	79					0	0	0.000409698	0	0
C3P1	388503	broad.mit.edu	37	19	10158131	10158131	+	RNA	SNP	C	C	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:10158131C>A	ENST00000495140.1	+	0	1339																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						ATCGCCAGGCCAAGGTGAAGC	0.418000													6	109					8.12818e-05	0.00196761	8.12818e-05	1	0
TNPO3	23534	broad.mit.edu	37	7	128645159	128645159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:128645159G>A	ENST00000393245.1	-	5	980	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	TNPO3_ENST00000265388.5_Missense_Mutation_p.R203C|TNPO3_ENST00000471166.1_Missense_Mutation_p.R203C|TNPO3_ENST00000471234.1_Missense_Mutation_p.R203C|TNPO3_ENST00000482320.1_Missense_Mutation_p.R137C	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	203					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CCCAAACAGCGAAAAACCTTC	0.323000													42	84					0	0	0.000125731	0	0
MAN2A2	4122	broad.mit.edu	37	15	91462873	91462873	+	Silent	SNP	G	G	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:91462873G>T	ENST00000360468.3	+	22	3327	c.3309G>T	c.(3307-3309)ctG>ctT	p.L1103L	MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000431652.2_Silent_p.L611L|MAN2A2_ENST00000559717.1_Silent_p.L1103L|MAN2A2_ENST00000430376.2_Silent_p.L293L	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1103					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGGTAGCCCTGGGCAGCCTTT	0.522000													11	375					0.00010058	0.00242929	0.00010058	1	0
CFAP54	144535	broad.mit.edu	37	12	97137626	97137626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr12:97137626C>T	ENST00000524981.3	+	21	2848	c.2848C>T	c.(2848-2850)Ccc>Tcc	p.P950S				Q6ZTY8	CL063_HUMAN		924										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CAAGGAATCTCCCTCTTCAAA	0.393000													14	45					0	0	0.000219431	0	0
CALCR	799	broad.mit.edu	37	7	93101751	93101751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:93101751G>A	ENST00000359558.2	-	7	718	c.419C>T	c.(418-420)cCt>cTt	p.P140L	CALCR_ENST00000360249.4_Missense_Mutation_p.P122L|CALCR_ENST00000394441.1_Missense_Mutation_p.P122L|CALCR_ENST00000426151.1_Missense_Mutation_p.P122L|CALCR_ENST00000421592.1_Missense_Mutation_p.P122L	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	122					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATTGTTTTCAGGATGTTTAAA	0.343000													14	93					0	0	0.000219431	0	0
TMC5	79838	broad.mit.edu	37	16	19498601	19498601	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr16:19498601C>T	ENST00000396229.2	+	17	3275	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F	TMC5_ENST00000541464.1_Silent_p.F790F|TMC5_ENST00000219821.5_Silent_p.F596F|TMC5_ENST00000542583.2_Silent_p.F842F|TMC5_ENST00000381414.4_Silent_p.F842F|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Silent_p.F483F|TMC5_ENST00000564959.1_Silent_p.F525F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	842						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGCTCTTTTTCCCATCCTTCA	0.537000													4	34					0	0	1.23904e-05	0	0
TSSC4	10078	broad.mit.edu	37	11	2423876	2423876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:2423876G>A	ENST00000333256.6	+	3	456	c.13G>A	c.(13-15)Gga>Aga	p.G5R	TSSC4_ENST00000380996.5_Missense_Mutation_p.G5R|TSSC4_ENST00000451491.2_Missense_Mutation_p.G5R|TSSC4_ENST00000380992.1_Missense_Mutation_p.G5R			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	5										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTGAGGCAGGAACAGGTGA	0.577000													18	115					0	0	9.7654e-05	0	0
GAB2	9846	broad.mit.edu	37	11	77931468	77931468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:77931468G>A	ENST00000361507.4	-	9	1869	c.1784C>T	c.(1783-1785)cCc>cTc	p.P595L	GAB2_ENST00000340149.2_Missense_Mutation_p.P557L	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	595					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			ACTGGGAACGGGAGATGCAGA	0.567000													10	56					0	0	6.40141e-05	0	0
NPC1	4864	broad.mit.edu	37	18	21121366	21121366	+	Silent	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr18:21121366G>A	ENST00000269228.5	-	15	2831	c.2277C>T	c.(2275-2277)acC>acT	p.T759T	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.T441T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	759	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAGAGAGAAGGTGTGCACGG	0.512000													16	29					0	0	5.01169e-05	0	0
OR6T1	219874	broad.mit.edu	37	11	123814281	123814281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:123814281C>T	ENST00000321252.2	-	1	299	c.265G>A	c.(265-267)Gat>Aat	p.D89N		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ATGGTGTGATCCCCCGTGAGG	0.502000													16	45					0	0	5.01169e-05	0	0
GPC4	2239	broad.mit.edu	37	X	132445423	132445423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:132445423G>A	ENST00000370828.3	-	4	1264	c.740C>T	c.(739-741)gCc>gTc	p.A247V	GPC4_ENST00000535467.1_Missense_Mutation_p.A177V	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	247					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CTTCAACAGGGCATGGGTACA	0.468000													23	50					0	0	9.22233e-05	0	0
MS4A2	2206	broad.mit.edu	37	11	59857832	59857832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:59857832G>A	ENST00000278888.3	+	3	312	c.210G>A	c.(208-210)atG>atA	p.M70I		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	70					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGACTGCTATGATATGCCTTT	0.323000													24	203					0	0	0.000184323	0	0
OR4C3	256144	broad.mit.edu	37	11	48347292	48347292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:48347292C>T	ENST00000319856.4	+	1	821	c.800C>T	c.(799-801)gCc>gTc	p.A267V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ACCTGTGGAGCCCACTTCATT	0.433000													20	95					0	0	9.7654e-05	0	0
OR4A5	81318	broad.mit.edu	37	11	51412241	51412241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr11:51412241G>A	ENST00000319760.6	-	1	207	c.155C>T	c.(154-156)tCc>tTc	p.S52F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GGAACCCAAGGAAGGGCTGGC	0.428000													12	44					0	0	0.00010058	0	0
DGKD	8527	broad.mit.edu	37	2	234360705	234360705	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:234360705C>T	ENST00000264057.2	+	18	2275	c.2264_splice	c.e18+1	p.L755_splice	DGKD_ENST00000409813.3_Splice_Site_p.L711_splice	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	755					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACCAGAAACCCTGTGAGTATG	0.458000													16	50					0	0	0.000422831	0	0
ABCA8	10351	broad.mit.edu	37	17	66937058	66937058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr17:66937058G>A	ENST00000269080.2	-	3	279	c.142C>T	c.(142-144)Cct>Tct	p.P48S	ABCA8_ENST00000586539.1_Missense_Mutation_p.P48S|ABCA8_ENST00000430352.2_Missense_Mutation_p.P48S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	48						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)					TGACTATGAGGATATATATAC	0.323000													8	50					0	0	3.86212e-05	0	0
GABRQ	55879	broad.mit.edu	37	X	151821280	151821280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chrX:151821280C>T	ENST00000370306.2	+	9	1455	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	479						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTTTTCCTACCGAAAT	0.542000													26	58					0	0	0.000227799	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170215	207170215	+	Silent	SNP	C	C	T			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr2:207170215C>T	ENST00000374423.3	+	5	1349	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	321							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAAAGGAATCTTTGAAGATA	0.373000													15	53					0	0	0.000308642	0	0
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	-	CTG	rs35574083		TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:55505552_55505553insCTG	ENST00000302118.5	+	1	332_333	c.42_43insCTG	c.(40-45)cctgct>ccCTGtgct	p.14_15PA>PCA	PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	14					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703													25	79	---	---	---	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:155886422_155886423delCT	ENST00000368320.3	-	12	1571_1572	c.1546_1547delAG	c.(1546-1548)gfs	p.R516fs	KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs			Q7Z7F0	K0907_HUMAN	KIAA0907	516								p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													8	285	---	---	---	---					
CDK18	5129	broad.mit.edu	37	1	205493374	205493375	+	Frame_Shift_Ins	INS	-	-	CT	rs61733643	byFrequency	TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr1:205493374_205493375insCT	ENST00000360066.2	+	4	589_590	c.288_289insCT	c.(286-291)agtctcfs	p.L97fs	CDK18_ENST00000506784.1_Frame_Shift_Ins_p.L127fs|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Frame_Shift_Ins_p.L97fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	95							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TCAGCAAGAGGCTCTCTCTGCC	0.594											OREG0014156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	86	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22750449	22750449	+	RNA	DEL	T	T	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr4:22750449delT	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACTTCTGTTCTTTTTTTTTAG	0.378													2	4	---	---	---	---					
TRDN	10345	broad.mit.edu	37	6	123786033	123786033	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr6:123786033delA	ENST00000546248.1	-	9	1022	c.889delT	c.(889-891)ctfs	p.S297fs	RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GATCTTTAAGAAAAAAAAAAG	0.388													3	5	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100334934	100334934	+	RNA	DEL	T	T	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr7:100334934delT	ENST00000542585.1	+	0	723				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACATCGCCCTGGATGCCCTC	0.627													2	4	---	---	---	---					
LARP4B	23185	broad.mit.edu	37	10	871151	871151	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:871151delA	ENST00000316157.3	-	12	1378	c.1338delT	c.(1336-1338)atfs	p.I446fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	446							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGACACCATTAATTAATCGAT	0.473													36	170	---	---	---	---					
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr10:70156583delT	ENST00000388768.2	-	4	783	c.457delA	c.(457-459)tgfs	p.M153fs	RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398													7	88	---	---	---	---					
ESD	2098	broad.mit.edu	37	13	47354112	47354112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr13:47354112delT	ENST00000378720.3	-	8	740	c.558delA	c.(556-558)aafs	p.K186fs	ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	186						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CACTAAAGGCTTTTTTGCCCC	0.353													8	227	---	---	---	---					
B2M	567	broad.mit.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:45003781_45003782delCT	ENST00000558401.1	+	1	107_108	c.37_38delCT	c.(37-39)cfs	p.L13fs	B2M_ENST00000544417.1_Frame_Shift_Del_p.L13fs|B2M_ENST00000559916.1_Frame_Shift_Del_p.L13fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	13					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.L15fs*41(4)|p.A11fs*42(1)|p.L13F(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCT	0.614													7	61	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													7	13	---	---	---	---					
MAP2K2	5605	broad.mit.edu	37	19	4099253	4099255	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr19:4099253_4099255delCTT	ENST00000262948.5	-	7	1116_1118	c.863_865delAAG	c.(862-867)gga>g	p.EG288del	MAP2K2_ENST00000394867.4_In_Frame_Del_p.EG191del	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	288	Pro-rich.|Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGGCTCTCCTTCTTCCCCGTC	0.700													4	8	---	---	---	---					
CEP250	11190	broad.mit.edu	37	20	34059970	34059976	+	Splice_Site	DEL	AACCCAG	AACCCAG	-			TCGA-EE-A2GH-06A-11D-A196-08	TCGA-EE-A2GH-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f64d80b-b9fa-4a2f-a505-b59946afa088	a96022ac-ca42-41fb-9e6a-07ced57620cb	g.chr20:34059970_34059976delAACCCAG	ENST00000397527.1	+	11	1764_1770	c.1050_splice	c.e11+1	p.ITQ348_splice	CEP250_ENST00000342580.4_Splice_Site_p.ITQ348_splice	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	348					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCAAGGATATAACCCAGGTACTGGGAA	0.469													12	112	---	---	---	---