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
PCDHB1	29930	broad.mit.edu	37	5	140431755	140431755	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:140431755G>A	ENST00000306549.3	+	1	777	c.700G>A	c.(700-702)Gat>Aat	p.D234N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		234	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTTCTGGATGTCAACGA	0.602000													6	50					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849534	73849534	+	Silent	SNP	C	C	T	rs149751161		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:73849534C>T	ENST00000523207.1	+	3	2532	c.1944C>T	c.(1942-1944)ggC>ggT	p.G648G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	648					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAGCTAGGGGCCCCCCGTTTC	0.587000													7	135					0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84644345	84644345	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:84644345C>T	ENST00000369681.4	+	11	986	c.846C>T	c.(844-846)tcC>tcT	p.S282S	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	282	FAD-binding FR-type.		S -> P (in dbSNP:rs10080628).		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)		AGTTAATTTCCAAGGAAGATG	0.368000													4	66					0	0	1	0	0
YWHAE	7531	broad.mit.edu	37	17	1264556	1264556	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:1264556G>A	ENST00000264335.8	-	4	675	c.408C>T	c.(406-408)gcC>gcT	p.A136A	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000571732.1_Silent_p.A114A|YWHAE_ENST00000575977.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	136					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CGTTTCCTGTGGCAAATTCTG	0.388000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						11	131					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98188453	98188453	+	Silent	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:98188453G>C	ENST00000357947.3	-	5	798	c.573C>G	c.(571-573)acC>acG	p.T191T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	191	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGGTCACACAGGTGTGCTTCT	0.473000													5	73					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551746	248551746	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:248551746C>T	ENST00000355728.2	+	1	837	c.837C>T	c.(835-837)acC>acT	p.T279T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			CCTTTTATACCATCCTCACAC	0.468000													8	84					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792969	131792969	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:131792969C>T	ENST00000286355.5	-	18	5515	c.3423G>A	c.(3421-3423)aaG>aaA	p.K1141K	ADCY8_ENST00000377928.3_Silent_p.K1010K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1141					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)			AGCCCTGGTCCTTCAGGATGA	0.502000										HNSCC(32;0.087)			21	183					0	0	1	0	0
RPL39L	116832	broad.mit.edu	37	3	186838997	186838997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:186838997G>A	ENST00000296277.4	-	3	494	c.92C>T	c.(91-93)cCt>cTt	p.P31L	RPL39L_ENST00000433055.1_Missense_Mutation_p.P31L|RPL39L_ENST00000455270.1_Missense_Mutation_p.P31L	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	31					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		TTTACTACCAGGTTTCATCTG	0.438000													16	212					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183079729	183079729	+	Missense_Mutation	SNP	C	C	T	rs142614579	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:183079729C>T	ENST00000258341.4	+	4	1218	c.961C>T	c.(961-963)Cct>Tct	p.P321S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	321	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAGTGTCTTCCTTTCTTCAA	0.473000													12	186					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067268	18067268	+	Silent	SNP	C	C	T	rs13231476		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:18067268C>T	ENST00000506618.2	-	1	218	c.138G>A	c.(136-138)gaG>gaA	p.E46E		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	46					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CACGCACACTCTCATCAATTT	0.483000													23	306					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023186	76023186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:76023186G>A	ENST00000393004.2	-	5	2583	c.2362C>T	c.(2362-2364)Ccc>Tcc	p.P788S	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.P689S|FILIP1_ENST00000237172.7_Missense_Mutation_p.P788S			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	788										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						TTCACACTGGGCCTAAGAGCT	0.478000													11	222					0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111903842	111903842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:111903842G>A	ENST00000374581.3	-	4	642	c.643C>T	c.(643-645)Cat>Tat	p.H215Y		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like	215	DOMON.					integral to membrane											TTGTCATCATGGACGCAGGCC	0.433000													11	129					0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48200887	48200887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:48200887G>A	ENST00000302506.3	-	14	1789	c.1381C>T	c.(1381-1383)Cct>Tct	p.P461S	CDC25A_ENST00000351231.3_Missense_Mutation_p.P421S	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	461	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TACAGCTCAGGGTAGTGGAGT	0.532000													6	118					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762540	130762540	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:130762540G>A	ENST00000392429.1	+	2	3351	c.973G>A	c.(973-975)Gat>Aat	p.D325N	TMEM200A_ENST00000296978.3_Missense_Mutation_p.D325N|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D325N	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	325						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)		TTTGTCAATGGATTCCCTTGT	0.438000													8	90					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37565432	37565432	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:37565432C>T	ENST00000300651.6	-	17	3265	c.3042G>A	c.(3040-3042)aaG>aaA	p.K1014K	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1014	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CAGTGTCTGCCTTCTTCCGCT	0.512000										HNSCC(31;0.082)			7	151					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110477462	110477462	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:110477462G>A	ENST00000260283.4	-	10	1071	c.787C>T	c.(787-789)Cca>Tca	p.P263S	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P227S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P237S|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P237S|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P240S|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P227S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	263	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ATTCCATATGGATATTCATGC	0.438000													11	178					0	0	1	0	0
HTRA3	94031	broad.mit.edu	37	4	8293147	8293147	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:8293147G>A	ENST00000307358.2	+	4	963	c.759G>A	c.(757-759)ggG>ggA	p.G253G	HTRA3_ENST00000382512.3_Silent_p.G253G	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	253	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGCGGCCTGGGGAGTTTGTGG	0.617000													10	77					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128369	6128369	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:6128369C>T	ENST00000261405.5	-	28	4469	c.4215G>A	c.(4213-4215)aaG>aaA	p.K1405K		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1405	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTTCTTCTTCTTCAGGCCCT	0.617000													8	103					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193039579	193039579	+	Silent	SNP	C	C	T	rs138029126	by1000genomes	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:193039579C>T	ENST00000342358.4	-	16	1923	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	602					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.S602S(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCTGCAGGCTCGAGGAAAATG	0.502000													4	65					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771917	99771917	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:99771917C>T	ENST00000370185.3	+	7	2140	c.1643C>T	c.(1642-1644)cCc>cTc	p.P548L	LPPR4_ENST00000457765.1_Missense_Mutation_p.P490L|LPPR4_ENST00000370184.1_Missense_Mutation_p.P390L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		548							phosphatidate phosphatase activity	p.P548L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCACCTCCCCCAAAAGCAGC	0.547000													13	248					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957747	111957747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:111957747G>A	ENST00000369732.3	-	11	1431	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	459					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTTCCAAGGGATACAGTTTC	0.502000													7	99					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232393153	232393153	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:232393153G>A	ENST00000305141.4	-	2	712	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	193					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGTTGGGCAGGGAGCAGAGCA	0.697000													4	53					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227131	35227131	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:35227131C>T	ENST00000339480.1	+	2	646	c.276C>T	c.(274-276)gtC>gtT	p.V92V	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	92					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGCTCGTGGTCATGCACGTGG	0.647000													4	53					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144990493	144990493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:144990493G>A	ENST00000322810.4	-	32	14076	c.13907C>T	c.(13906-13908)gCc>gTc	p.A4636V	PLEC_ENST00000357649.2_Missense_Mutation_p.A4503V|PLEC_ENST00000436759.2_Missense_Mutation_p.A4526V|PLEC_ENST00000354958.2_Missense_Mutation_p.A4477V|PLEC_ENST00000527096.1_Missense_Mutation_p.A4522V|PLEC_ENST00000398774.2_Missense_Mutation_p.A4467V|PLEC_ENST00000354589.3_Missense_Mutation_p.A4499V|PLEC_ENST00000356346.3_Missense_Mutation_p.A4485V|PLEC_ENST00000345136.3_Missense_Mutation_p.A4499V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4636	4 X 4 AA tandem repeats of G-S-R-X.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGGGAGCCGGCCCGGGAGCC	0.716000													5	23					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86616879	86616879	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:86616879C>T	ENST00000325875.3	+	3	1310	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	326					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAGAAACTGTCCAGAAAGAAC	0.373000													8	79					0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391445	125391445	+	Missense_Mutation	SNP	G	G	A	rs140036779	by1000genomes	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:125391445G>A	ENST00000304833.3	-	1	407	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GCCACATAGCGATCCAGAGCC	0.502000													6	74					0	0	1	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202153458	202153458	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:202153458C>T	ENST00000405148.2	-	15	1701	c.1258G>A	c.(1258-1260)Ggg>Agg	p.G420R	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.G397R|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.G420R|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.G397R	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	420					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GCCAATCTCCCAGAACATCCT	0.353000													9	85					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155654174	155654174	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:155654174C>T	ENST00000496455.1	+	15	2190	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y	GMPS_ENST00000295920.7_Missense_Mutation_p.H520Y	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	619					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GACACCATTACATTTTGATCG	0.428000			T	MLL	AML								7	145					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14808214	14808214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:14808214G>A	ENST00000282096.4	+	3	1614	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	421					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAGAAAGGGGATAGAAAACT	0.363000													12	172					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506726	11506726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:11506726C>T	ENST00000500254.2	-	3	348	c.311G>A	c.(310-312)gGa>gAa	p.G104E	PRB1_ENST00000545626.1_Missense_Mutation_p.G104E|PRB1_ENST00000546254.1_Missense_Mutation_p.G104E	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	287	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTACCTCCTTGTGGGGG	0.622000													29	570					0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211085508	211085508	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:211085508C>T	ENST00000233710.3	-	2	323	c.96G>A	c.(94-96)ggG>ggA	p.G32G	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	32					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		GACGTTCTTCCCCTCCGGAAT	0.348000													3	32					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35763785	35763785	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:35763785C>T	ENST00000440995.2	+	26	3767	c.3767C>T	c.(3766-3768)tCt>tTt	p.S1256F	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.S1261F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1261					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAGGCTTCTTTAGCAGTA	0.403000													8	88					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96124061	96124061	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:96124061C>A	ENST00000453304.1	-	12	2305	c.1957G>T	c.(1957-1959)Gat>Tat	p.D653Y		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	653					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTGCATCCAGCTGAATG	0.602000													14	101					0.000151284	0.000153194	1	1	0
CAPN5	726	broad.mit.edu	37	11	76831936	76831936	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:76831936G>A	ENST00000278559.3	+	10	1657	c.1468G>A	c.(1468-1470)Gat>Aat	p.D490N	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.D490N|CAPN5_ENST00000456580.2_Missense_Mutation_p.D530N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	490	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AGTCTTCACTGATGTGCCCTC	0.622000													8	142					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698527	96698527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:96698527C>T	ENST00000260682.6	+	1	100	c.88C>T	c.(88-90)Cct>Tct	p.P30S	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	30					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGGAAAACTCCCTCCTGGCCC	0.468000													12	229					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580531	140580531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:140580531C>T	ENST00000354757.3	+	1	1184	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S30F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		395	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTAAAATCTTCAGTTGAG	0.458000													7	172					0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4454089	4454089	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:4454089C>T	ENST00000301281.6	-	2	209	c.83_splice	c.e2-1	p.E29_splice	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	29						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TGGGCCTTTTCCCTGGGAACA	0.662000													9	216					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67790890	67790890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:67790890C>T	ENST00000422365.2	+	6	734	c.563C>T	c.(562-564)gCa>gTa	p.A188V	MCMDC2_ENST00000396592.3_Missense_Mutation_p.A188V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A188V|MCMDC2_ENST00000492775.1_Missense_Mutation_p.A188V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A125V|MCMDC2_ENST00000469823.1_3'UTR	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	188					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						AATCTATGTGCATCTTCACTT	0.303000													8	173					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161989809	161989809	+	Missense_Mutation	SNP	G	G	A	rs142774017		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:161989809G>A	ENST00000294794.3	-	2	761	c.338C>T	c.(337-339)tCg>tTg	p.S113L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.S113L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	113										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)			ACACTTGCACGACGAGCCTGA	0.617000													5	94					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12728536	12728536	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:12728536G>A	ENST00000380682.1	+	14	1995	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	497	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GCTTCTGATGGAATCCTCAGA	0.443000													9	151					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32332413	32332413	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:32332413G>A	ENST00000298386.2	+	2	184	c.113G>A	c.(112-114)gGt>gAt	p.G38D	RXFP2_ENST00000380314.1_Missense_Mutation_p.G38D	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	38						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTGACTCAAGGTAGCATGATC	0.438000													9	166					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181078	81181078	+	RNA	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:81181078C>T	ENST00000525539.1	-	0	5012				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGGATGGCACCTTGAGAGCTT	0.547000													7	103					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134034304	134034304	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:134034304G>A	ENST00000220616.4	+	40	6985	c.6945G>A	c.(6943-6945)ccG>ccA	p.P2315P	TG_ENST00000519543.1_Silent_p.P448P|TG_ENST00000377869.1_Silent_p.P2258P|TG_ENST00000542445.1_Silent_p.P685P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2315					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)		AAGGATGGCCGGCTATCGACG	0.562000													7	139					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698526	96698526	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:96698526C>T	ENST00000260682.6	+	1	99	c.87C>T	c.(85-87)ctC>ctT	p.L29L	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	29					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAGGAAAACTCCCTCCTGGCC	0.463000													12	229					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73045957	73045957	+	RNA	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:73045957C>T	ENST00000604411.1	+	0	33918				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CACCTAAGCTCAAAGAAGGAA	0.498000													7	90					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36989323	36989323	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:36989323G>A	ENST00000274963.8	+	12	1440	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	423					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCGAGAAGCGGAATGAAACCT	0.597000											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995082	144995082	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:144995082C>T	ENST00000322810.4	-	32	9487	c.9318G>A	c.(9316-9318)aaG>aaA	p.K3106K	PLEC_ENST00000357649.2_Silent_p.K2973K|PLEC_ENST00000436759.2_Silent_p.K2996K|PLEC_ENST00000354958.2_Silent_p.K2947K|PLEC_ENST00000527096.1_Silent_p.K2992K|PLEC_ENST00000398774.2_Silent_p.K2937K|PLEC_ENST00000354589.3_Silent_p.K2969K|PLEC_ENST00000356346.3_Silent_p.K2955K|PLEC_ENST00000345136.3_Silent_p.K2969K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3106	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAAGCCGGCCCTTCTGCTCCT	0.652000													14	46					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683730	50683730	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr18:50683730C>T	ENST00000442544.2	+	8	1882	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Silent_p.I77I|DCC_ENST00000412726.1_Silent_p.I270I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	422					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTTAGCTATCCCAAGCTCCA	0.547000													8	167					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087485	55087485	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:55087485C>T	ENST00000251377.3	+	7	1297	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	LILRA2_ENST00000391738.3_Silent_p.A388A|LILRA2_ENST00000251376.3_Silent_p.A388A|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.A376A					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCTCAGCCCACGTGGGGA	0.617000													6	117					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101808558	101808558	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:101808558G>A	ENST00000370418.3	-	8	1438	c.1187C>T	c.(1186-1188)cCa>cTa	p.P396L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	396					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TACTGTCTCTGGGTCATACCC	0.483000													6	135					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61499145	61499145	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:61499145C>T	ENST00000424789.2	+	25	5806	c.5802C>T	c.(5800-5802)ctC>ctT	p.L1934L	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.L1944L	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1934							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GTGGAGACCTCTTGGAGCGAG	0.542000													8	106					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071881	17071881	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:17071881G>A	ENST00000359963.3	-	1	1819	c.1560C>T	c.(1558-1560)atC>atT	p.I520I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	520					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGCCACTACGATTTCATCTA	0.488000													15	189					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258723	56258723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56258723G>A	ENST00000327216.2	-	1	148	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					ATCATGCCAAGGTTCCCTGCC	0.517000													11	183					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26492317	26492317	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:26492317C>T	ENST00000311151.5	+	8	1124	c.712C>T	c.(712-714)Cgt>Tgt	p.R238C	DPYSL2_ENST00000523027.1_Missense_Mutation_p.R202C|DPYSL2_ENST00000521913.1_Missense_Mutation_p.R202C|DPYSL2_ENST00000521983.1_3'UTR	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	238					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGCCGTGAATCGTGCCATCAC	0.582000													6	127					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99696329	99696329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:99696329G>A	ENST00000303887.5	-	6	1237	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	MCM7_ENST00000354230.3_Missense_Mutation_p.P22S|MCM7_ENST00000343023.6_Missense_Mutation_p.P198S	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	198					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ATGAAAGTGGGAGACTGGATC	0.512000													6	108					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78755299	78755299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:78755299G>A	ENST00000258886.8	+	3	291	c.142G>A	c.(142-144)Gct>Act	p.A48T	IREB2_ENST00000560440.1_Missense_Mutation_p.A48T	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	48							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CTTGTTGGAAGCTGCTGTACG	0.323000													9	204					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129134155	129134155	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:129134155G>A	ENST00000505956.1	-	4	933	c.771C>T	c.(769-771)atC>atT	p.I257I	EFCAB12_ENST00000326085.3_Silent_p.I257I	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TATTGGCCAGGATATCCATGG	0.557000													8	44					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82436123	82436123	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:82436123G>A	ENST00000370728.1	+	18	3492	c.2847G>A	c.(2845-2847)agG>agA	p.R949R	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.R936R|LPHN2_ENST00000335786.5_Silent_p.R949R|LPHN2_ENST00000319517.6_Silent_p.R936R|LPHN2_ENST00000370723.1_Silent_p.R936R|LPHN2_ENST00000370713.1_Silent_p.R936R|LPHN2_ENST00000359929.3_Silent_p.R936R|LPHN2_ENST00000370725.1_Silent_p.R949R|LPHN2_ENST00000370717.2_Silent_p.R949R|LPHN2_ENST00000370727.1_Silent_p.R949R|LPHN2_ENST00000370721.1_Silent_p.R874R|LPHN2_ENST00000394879.1_Silent_p.R936R|LPHN2_ENST00000370730.1_Silent_p.R949R|LPHN2_ENST00000271029.4_Silent_p.R949R			O95490	LPHN2_HUMAN	latrophilin 2	949					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATATTCAAGGAAAAAATATT	0.378000													8	146					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119045231	119045231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:119045231G>A	ENST00000409109.1	+	6	1506	c.919G>A	c.(919-921)Ggt>Agt	p.G307S	NLRX1_ENST00000525863.1_Missense_Mutation_p.G307S|NLRX1_ENST00000409991.1_Missense_Mutation_p.G307S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G307S|NLRX1_ENST00000409265.4_Missense_Mutation_p.G307S			Q86UT6	NLRX1_HUMAN	NLR family member X1	307	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGCCGCTATGGTGAGATCTG	0.572000													16	268					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227387341	227387341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:227387341G>A	ENST00000366769.3	-	4	1658	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R123C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	123	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R123C(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTTCTTCACGAAAACATGCT	0.284000													7	89					0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246189	33246189	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:33246189C>T	ENST00000451237.1	+	1	1273	c.993C>T	c.(991-993)tcC>tcT	p.S331S		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	331					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TGCTGACGTCCCACAGGCTGG	0.632000													12	181					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126142196	126142196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:126142196G>A	ENST00000393425.1	+	12	1213	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	CCDC37_ENST00000505024.1_Missense_Mutation_p.E372K|CCDC37_ENST00000352312.1_Missense_Mutation_p.E371K			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	371										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCCCACGCAGGAGGACACCGA	0.667000													5	45					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681906	55681906	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:55681906C>T	ENST00000344514.1	-	1	152	c.153G>A	c.(151-153)atG>atA	p.M51I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTGGTAATCCATTCTGATTA	0.388000													7	92					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691089	44691089	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:44691089G>A	ENST00000290231.6	-	8	1754	c.1590C>T	c.(1588-1590)tcC>tcT	p.S530S		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	530	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGATACCTGTGGAAGACACAG	0.577000													5	64					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57080775	57080775	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:57080775G>A	ENST00000316981.3	-	4	533	c.54C>T	c.(52-54)gtC>gtT	p.V18V	PLAG1_ENST00000429357.2_Silent_p.V18V|PLAG1_ENST00000423799.2_Intron	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	18	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCCCTGAAGGGACTTTCTGGG	0.458000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								6	84					0	0	1	0	0
CCL25	6370	broad.mit.edu	37	19	8122782	8122782	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:8122782C>T	ENST00000253451.4	+	5	526	c.420C>T	c.(418-420)tcC>tcT	p.S140S	CCL25_ENST00000390669.3_Silent_p.S141S	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	141					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ggaatgtctccctcctgatat	0.483000													7	114					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811378	116811378	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:116811378T>C	ENST00000288466.7	+	14	1616	c.1517T>C	c.(1516-1518)gTg>gCg	p.V506A	ZNF618_ENST00000374126.5_Missense_Mutation_p.V599A|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CACCACTGGGTGCAGAACGTG	0.602000													14	127					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84028112	84028112	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:84028112G>A	ENST00000280241.8	-	1	76	c.77C>T	c.(76-78)aCc>aTc	p.T26I	DLG2_ENST00000398301.2_Missense_Mutation_p.T26I|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCTGATCAGGGTGGGCGCACT	0.607000													13	227					0	0	1	0	0
GNA12	2768	broad.mit.edu	37	7	2854019	2854019	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:2854019G>A	ENST00000407904.3	-	2	387	c.59C>T	c.(58-60)tCg>tTg	p.S20L	GNA12_ENST00000275364.3_Intron|GNA12_ENST00000544127.1_Intron			Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	0					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TGTGCTTCCCGAACCCTGCAA	0.463000													4	71					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104192063	104192063	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:104192063C>T	ENST00000374855.4	-	3	422	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	100					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ATCCCCTTTTCCTTGAGGATG	0.532000													13	372					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59274507	59274507	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:59274507G>A	ENST00000320743.3	-	13	1943	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	LRIG3_ENST00000379141.4_Missense_Mutation_p.R493W	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	553	Ig-like C2-type 1.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCTTGGGCCCGGAGGTGTGCA	0.498000			T	ROS1	NSCLC								7	104					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43206940	43206940	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:43206940C>T	ENST00000263245.5	-	12	1294	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.E287K|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.E315K	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	359	Ser-rich.				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TCCACTGGCTCGTCAAAGTAA	0.468000													10	91					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10188788	10188788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:10188788C>T	ENST00000380833.4	+	12	2454	c.2063C>T	c.(2062-2064)cCa>cTa	p.P688L	CLCN4_ENST00000380829.1_Missense_Mutation_p.P657L|CLCN4_ENST00000421085.2_Missense_Mutation_p.P594L	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	688						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCAACAGCCCACATCCCCTG	0.582000													12	114					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41381746	41381746	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:41381746C>T	ENST00000301146.4	-	9	1878	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	CYP2A7_ENST00000291764.3_Missense_Mutation_p.R395K|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	446						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGCTCCATTCTGGCCAGGCC	0.587000													5	66					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145533441	145533441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:145533441G>A	ENST00000369304.3	+	12	1499	c.1324G>A	c.(1324-1326)Ggt>Agt	p.G442S	ITGA10_ENST00000539363.1_Missense_Mutation_p.G299S|ITGA10_ENST00000538811.1_Missense_Mutation_p.G311S	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	442					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTTTTGCGGGGTGGACGCCG	0.517000													11	158					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59210690	59210690	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:59210690C>T	ENST00000302030.2	+	1	74	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CATGTTCATCCTCCTGGGATT	0.522000													7	92					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72352685	72352685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:72352685G>A	ENST00000340595.3	+	12	1988	c.1792G>A	c.(1792-1794)Gac>Aac	p.D598N	SLC4A4_ENST00000351898.6_Missense_Mutation_p.D642N|SLC4A4_ENST00000425175.1_Missense_Mutation_p.D642N|SLC4A4_ENST00000264485.5_Missense_Mutation_p.D642N	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	642						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AATATCTAATGACACCACACT	0.289000													6	57					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57176768	57176768	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:57176768G>A	ENST00000395123.2	-	13	1555	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	SLC43A3_ENST00000529554.1_Silent_p.F417F|SLC43A3_ENST00000395124.1_Silent_p.F417F|SLC43A3_ENST00000533524.1_Silent_p.F430F|RP11-872D17.8_ENST00000529411.1_Silent_p.F61F|SLC43A3_ENST00000352187.1_Silent_p.F417F	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	417					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GCTCTGAAGGGAAACTGGGGA	0.607000													5	81					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119903744	119903744	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:119903744C>T	ENST00000313400.4	-	4	1129	c.1029G>A	c.(1027-1029)gcG>gcA	p.A343A	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Silent_p.A343A			O75129	ASTN2_HUMAN	astrotactin 2	343						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCTCCTGAGTCGCCTCAGCTG	0.587000													4	57					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347568	91347568	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:91347568C>T	ENST00000358859.2	-	1	1385	c.952G>A	c.(952-954)Gag>Aag	p.E318K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		tcttcttcctcctcatcttcg	0.547000													7	97					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737987	152737987	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:152737987C>T	ENST00000367255.5	-	41	6186	c.5585G>A	c.(5584-5586)aGg>aAg	p.R1862K	SYNE1_ENST00000448038.1_Missense_Mutation_p.R1869K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1862K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1899K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1869K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1862					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)		AAGCTGCCGCCTCTCCACAAC	0.597000										HNSCC(10;0.0054)			7	154					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57080774	57080774	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:57080774G>A	ENST00000316981.3	-	4	534	c.55C>T	c.(55-57)Cct>Tct	p.P19S	PLAG1_ENST00000429357.2_Missense_Mutation_p.P19S|PLAG1_ENST00000423799.2_Intron	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	19	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TTCCCTGAAGGGACTTTCTGG	0.458000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								6	85					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763756	110763756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:110763756G>A	ENST00000451085.1	+	4	1974	c.928G>A	c.(928-930)Gat>Aat	p.D310N	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.D310N|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.D310N	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	310						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TAACCTGCCAGATTTAAGAAA	0.398000													6	133					0	0	1	0	0
YAE1D1	57002	broad.mit.edu	37	7	39610151	39610151	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:39610151A>C	ENST00000432096.2	+	2	189	c.176A>C	c.(175-177)cAa>cCa	p.Q59P	YAE1D1_ENST00000469737.1_3'UTR|YAE1D1_ENST00000223273.2_Missense_Mutation_p.Q59P|YAE1D1_ENST00000448268.1_Missense_Mutation_p.Q59P			Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	59																	GTTACTCTTCAACAGGGCTTC	0.368000													6	145					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974158	35974158	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:35974158C>T	ENST00000297866.5	+	8	1321	c.1255C>T	c.(1255-1257)Ctt>Ttt	p.L419F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	419										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						AGGACCAGTTCTTAATTTTAA	0.368000													6	72					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5474918	5474918	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:5474918C>A	ENST00000341449.2	+	1	281	c.200C>A	c.(199-201)tCc>tAc	p.S67Y	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCATGTTGTCCTTCAGTGAT	0.532000													7	99					0.00198382	0.00200044	1	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117960077	117960077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:117960077G>A	ENST00000310164.2	+	4	1377	c.870G>A	c.(868-870)tgG>tgA	p.W290*		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TTCCATCCTGGGGTGCCCCTC	0.562000													8	66					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650034	93650034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:93650034C>T	ENST00000375754.4	+	12	1733	c.1585C>T	c.(1585-1587)Cag>Tag	p.Q529*	SYK_ENST00000375751.4_Nonsense_Mutation_p.Q506*|SYK_ENST00000375746.1_Nonsense_Mutation_p.Q529*|SYK_ENST00000375747.1_Nonsense_Mutation_p.Q506*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	529	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CTTTTAGGCCCAGACCCATGG	0.488000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								21	204					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8383249	8383249	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:8383249G>A	ENST00000356406.5	-	14	1700	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	ACOX3_ENST00000503233.1_Silent_p.S541S|ACOX3_ENST00000413009.2_Silent_p.S541S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	541					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CAAAGTCACTGCTTCCTGATC	0.428000													8	158					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985566	108985566	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:108985566C>T	ENST00000392806.3	-	2	762	c.594G>A	c.(592-594)agG>agA	p.R198R		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	198						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCTCCACCATCCTGGCTCCGT	0.687000													4	67					0	0	1	0	0
NKAIN3	286183	broad.mit.edu	37	8	63492130	63492130	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:63492130C>T	ENST00000523211.1	+	2	219	c.87C>T	c.(85-87)ttC>ttT	p.F29F	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Silent_p.F29F	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	29						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TCTTTGACTTCCTTGGTTTCC	0.363000													6	140					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38899708	38899708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:38899708C>T	ENST00000359357.3	+	74	10999	c.10745C>T	c.(10744-10746)aCt>aTt	p.T3582I	RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.T3799I|DNAH8_ENST00000441566.1_Missense_Mutation_p.T3546I|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTGATTTCACTGTTACAATG	0.343000													8	126					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60757609	60757609	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:60757609C>T	ENST00000303375.5	+	15	2779	c.2377C>T	c.(2377-2379)Ctg>Ttg	p.L793L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	793	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCTGGCCTCCCTGCAGTGGGT	0.652000													4	64					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41027468	41027468	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:41027468C>T	ENST00000324545.7	+	18	3266	c.2633C>T	c.(2632-2634)tCg>tTg	p.S878L	USP9X_ENST00000378308.2_Missense_Mutation_p.S878L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	878					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTCCCTATGTCGAGGTTTGTG	0.328000													4	33					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14741007	14741007	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:14741007G>A	ENST00000253673.5	-	14	1756	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	EMR3_ENST00000344373.4_Silent_p.F500F|EMR3_ENST00000599900.1_Silent_p.F337F|EMR3_ENST00000443157.2_Silent_p.F426F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	552					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTGTTGCTTTGAAAGCCAGCA	0.493000													5	76					0	0	1	0	0
SNORD114-2	767578	broad.mit.edu	37	14	101418202	101418202	+	RNA	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:101418202G>A	ENST00000363953.1	+	0	10					NR_003194.1																						TGGGACCAATGATAATGACTG	0.328000													4	73					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228401943	228401943	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:228401943G>A	ENST00000570156.2	+	4	1401	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E443K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E443K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	443	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTTTGCGTGGAGCTGGCGGT	0.711000													6	111					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54859746	54859746	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:54859746G>A	ENST00000333896.5	+	16	3954	c.3569G>A	c.(3568-3570)gGa>gAa	p.G1190E	SPTBN1_ENST00000356805.4_Missense_Mutation_p.G1203E	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1203					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCTTGGAAGGAGCTGAAGCA	0.458000													7	104					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086360	53086360	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:53086360G>A	ENST00000540331.1	+	5	1471	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	ZNF701_ENST00000301093.2_Missense_Mutation_p.G416R|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.G350R	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AATTCACACTGGAGAGAAACC	0.393000													11	152					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118942966	118942966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:118942966G>A	ENST00000467604.1	-	5	1004	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F	B4GALT4_ENST00000393765.2_Missense_Mutation_p.L205F|B4GALT4_ENST00000483209.1_Missense_Mutation_p.L205F|B4GALT4_ENST00000359213.3_Missense_Mutation_p.L205F|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	205					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CACTTGTAAAGGTTAAAGTCA	0.493000													6	82					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821029	151821029	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:151821029G>A	ENST00000370306.2	+	9	1204	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	395						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)					GTGGAAGACGGAGTCAGCTCT	0.597000													6	70					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192107	152192107	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:152192107C>T	ENST00000368801.2	-	3	2073	c.1998G>A	c.(1996-1998)ggG>ggA	p.G666G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	666					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAATCGGACCCATGTCGGC	0.597000													15	274					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641738	57641738	+	Silent	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:57641738C>A	ENST00000254181.4	+	4	2149	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	USP29_ENST00000598197.1_Silent_p.V565V	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	565					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCTGGAAGTCTCTCAGGAGA	0.448000													9	195					0.00448238	0.00451364	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158651380	158651380	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:158651380C>T	ENST00000368148.3	-	4	648	c.468G>A	c.(466-468)cgG>cgA	p.R156R	SPTA1_ENST00000368147.3_Silent_p.R156R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	156					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTTCAGGGCCCGCAGCAACT	0.532000													20	286					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179528420	179528420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:179528420C>T	ENST00000589042.1	-	171	36690	c.36466G>A	c.(36466-36468)Gaa>Aaa	p.E12156K	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10305	Ig-like 81.						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)			GGAACTACTTCTTTGGGAGGC	0.388000													11	307					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220823975	220823975	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:220823975C>T	ENST00000402574.1	+	14	2081	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	MARK1_ENST00000366917.4_Missense_Mutation_p.S495F|MARK1_ENST00000366918.4_Missense_Mutation_p.S473F	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	495	UBA.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AATGTGTATTCTGGAGGTAGC	0.343000													10	224					0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105606463	105606463	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:105606463C>T	ENST00000254765.3	-	4	1036	c.758G>A	c.(757-759)gGa>gAa	p.G253E	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	253						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ATATCTTTTTCCTATATATAC	0.408000													11	217					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232943748	232943748	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:232943748G>A	ENST00000418460.1	+	1	3106	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		CATCCCAGGTGAGTTCTTACC	0.378000													10	188					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812167	140812167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:140812167C>T	ENST00000252085.3	+	1	1983	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L	PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGCGAGCCGGGACTCTTC	0.682000													14	172					0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43827505	43827505	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:43827505C>T	ENST00000402924.1	+	4	178	c.15C>T	c.(13-15)ccC>ccT	p.P5P	BLVRA_ENST00000265523.4_Silent_p.P5P	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	5					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TGTTTCAGCCCGAGAGGAAGT	0.567000													6	121					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894484	78894484	+	Missense_Mutation	SNP	G	G	A	rs72648887		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:78894484G>A	ENST00000326828.5	-	5	884	c.500C>T	c.(499-501)cCg>cTg	p.P167L	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P167L	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	167					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTAATCAAACGGGAAGTAGGT	0.488000													6	136					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595883	179595883	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:179595883C>T	ENST00000589042.1	-	60	17733	c.17509G>A	c.(17509-17511)Gga>Aga	p.G5837R	TTN_ENST00000591111.1_Missense_Mutation_p.G5520R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4593R|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5520	Ig-like 39.						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)			GCTGGGTCTCCTTGGGTGACA	0.448000													15	242					0	0	1	0	0
RPL39L	116832	broad.mit.edu	37	3	186838998	186838998	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:186838998G>A	ENST00000296277.4	-	3	493	c.91C>T	c.(91-93)Cct>Tct	p.P31S	RPL39L_ENST00000433055.1_Missense_Mutation_p.P31S|RPL39L_ENST00000455270.1_Missense_Mutation_p.P31S	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	31					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		TTACTACCAGGTTTCATCTGA	0.438000													16	210					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169502955	169502955	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:169502955C>T	ENST00000256935.8	+	47	4813	c.4733C>T	c.(4732-4734)cCc>cTc	p.P1578L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.P1070L|DOCK2_ENST00000540750.1_Missense_Mutation_p.P639L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1578	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCAGATCCCCTTCTTGGGA	0.537000													17	234					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285476	152285476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:152285476C>T	ENST00000368799.1	-	3	1921	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	629	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)			TTCTGAGTGTCCCTGACTGTC	0.567000									Ichthyosis				17	391					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50863221	50863221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:50863221C>T	ENST00000395562.2	+	13	1938	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	CHAT_ENST00000395559.2_Missense_Mutation_p.S454L|CHAT_ENST00000351556.3_Missense_Mutation_p.S454L|CHAT_ENST00000339797.1_Missense_Mutation_p.S454L|CHAT_ENST00000455728.2_Missense_Mutation_p.S454L|CHAT_ENST00000337653.2_Missense_Mutation_p.S572L	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	572					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AACATCAGATCGGCCACTCCA	0.617000													7	117					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136664	64136664	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:64136664G>A	ENST00000395254.3	+	2	992	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	ZNF365_ENST00000395255.3_Missense_Mutation_p.E238K|ZNF365_ENST00000410046.3_Missense_Mutation_p.E238K|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACGCCTGACGGAATCTGAGGA	0.507000													8	181					0	0	1	0	0
PRMT1	3276	broad.mit.edu	37	19	50185211	50185211	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:50185211C>T	ENST00000532489.1	+	4	605	c.99C>T	c.(97-99)tcC>tcT	p.S33S	PRMT1_ENST00000391851.4_Silent_p.S61S|PRMT1_ENST00000454376.2_Silent_p.S79S			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	60						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		ACCGCAACTCCATGTTTCATA	0.617000													4	42					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21133696	21133696	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:21133696G>A	ENST00000215727.5	+	2	379	c.96G>A	c.(94-96)ggG>ggA	p.G32G	SERPIND1_ENST00000406799.1_Silent_p.G32G|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	32					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	AGAAAGGAGGGGAAACTGCTC	0.493000													7	75					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475061	120475061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:120475061C>T	ENST00000355622.6	+	3	756	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.Q179*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	219					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.Q219K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GAACTTTATCCAACCAGGTGC	0.363000													15	141					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671691	125671691	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:125671691C>T	ENST00000431078.1	+	24	4111	c.3747C>T	c.(3745-3747)ttC>ttT	p.F1249F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1249					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGTGATATTCATCATCTTCT	0.478000													6	146					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117686800	117686800	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:117686800G>A	ENST00000368508.3	-	19	3115	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S	ROS1_ENST00000368507.3_Missense_Mutation_p.P968S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	973	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTACCGCAGGGGGACCATTC	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								5	94					0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12798615	12798615	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:12798615T>G	ENST00000381774.4	-	3	821	c.581A>C	c.(580-582)cAg>cCg	p.Q194P	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	194							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GCAGTGCCGCTGCCTCGCGAT	0.597000													7	101					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100489717	100489717	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:100489717C>T	ENST00000471714.1	-	61	4693	c.4584G>A	c.(4582-4584)gaG>gaA	p.E1528E	ABI3BP_ENST00000284322.5_Silent_p.E826E|ABI3BP_ENST00000383691.4_Silent_p.E780E			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	826						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTGTGGCCTCCTCTTTGGGGA	0.557000													12	162					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170103335	170103335	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:170103335C>T	ENST00000263816.3	-	21	3355	c.3070G>A	c.(3070-3072)Gag>Aag	p.E1024K	LRP2_ENST00000443831.1_Missense_Mutation_p.E887K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1024	LDL-receptor class A 8.				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)	CCACACTGCTCTGTGGGTGGT	0.488000													8	138					0	0	1	0	0
SAYSD1	55776	broad.mit.edu	37	6	39082853	39082853	+	Silent	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:39082853A>G	ENST00000229903.4	-	1	112	c.13T>C	c.(13-15)Tta>Cta	p.L5L		NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN	SAYSVFN motif domain containing 1	5						integral to membrane											AACTCAGCTAACCGCTGTTCC	0.731000													3	29					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31331057	31331057	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:31331057G>A	ENST00000215862.4	-	20	3081	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	MORC2_ENST00000397641.2_Missense_Mutation_p.P635L	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	635							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGCTGGTCTAGGAGTTGGCAA	0.602000													6	59					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28375381	28375381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:28375381G>A	ENST00000261609.7	-	83	12838	c.12730C>T	c.(12730-12732)Caa>Taa	p.Q4244*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4244					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCAACCCTTGGACCTGCCGA	0.572000													10	251					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124481588	124481588	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:124481588C>T	ENST00000284288.2	+	1	203	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	46					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGTGGGCTCCCCCTTGTTGCT	0.602000													5	69					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124665031	124665031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:124665031G>A	ENST00000325995.7	-	1	159	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	46	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGGTGGCAGGGGATCTCCCGG	0.572000													10	70					0	0	1	0	0
ZNF763	284390	broad.mit.edu	37	19	12089398	12089398	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:12089398G>A	ENST00000343949.5	+	4	823	c.668G>A	c.(667-669)aGa>aAa	p.R223K	ZNF763_ENST00000590798.1_Missense_Mutation_p.R240K|ZNF763_ENST00000538752.1_Missense_Mutation_p.R240K|ZNF763_ENST00000358987.3_Missense_Mutation_p.R220K|ZNF763_ENST00000545530.1_Missense_Mutation_p.R98K	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATCCATGAAAGAACTCACACT	0.383000													9	126					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577925	33577925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:33577925G>T	ENST00000262873.7	+	19	2094	c.2002G>T	c.(2002-2004)Gag>Tag	p.E668*		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	626	Actin-binding (By similarity).|Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GACTCTCTATGAGAATTATGC	0.557000													12	165					1.08611e-07	1.10915e-07	1	1	0
ERC2	26059	broad.mit.edu	37	3	55733530	55733530	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:55733530C>T	ENST00000288221.6	-	16	2978	c.2723G>A	c.(2722-2724)aGa>aAa	p.R908K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	908						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAACTTCATTCTGTTCTGGGT	0.468000													9	216					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135693001	135693001	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:135693001G>A	ENST00000513104.1	-	2	357	c.75C>T	c.(73-75)gcC>gcT	p.A25A	TRPC7_ENST00000355180.3_Silent_p.A25A|TRPC7_ENST00000426057.2_Silent_p.A25A	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	25					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACCCCGGATGGCCTGGCGAC	0.607000													9	143					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24662133	24662133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:24662133G>A	ENST00000556387.1	-	7	1348	c.1315C>T	c.(1315-1317)Cga>Tga	p.R439*	TM9SF1_ENST00000396854.4_Nonsense_Mutation_p.R230*|TM9SF1_ENST00000528669.1_Nonsense_Mutation_p.R230*|TM9SF1_ENST00000524835.1_Nonsense_Mutation_p.R143*|TM9SF1_ENST00000261789.4_Nonsense_Mutation_p.R230*|TM9SF1_ENST00000530611.1_Nonsense_Mutation_p.R439*			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	230					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TCCAGTGTTCGAGGAAAGAAA	0.512000													8	44					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48261722	48261722	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:48261722G>A	ENST00000394747.1	-	3	739	c.390C>T	c.(388-390)gtC>gtT	p.V130V	ABCC11_ENST00000394748.1_Silent_p.V130V|ABCC11_ENST00000356608.2_Silent_p.V130V|ABCC11_ENST00000353782.5_Silent_p.V130V|ABCC11_ENST00000537808.1_Silent_p.V130V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	130						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTCACCTTTGGACATTTTTGT	0.512000													9	149					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997421	46997421	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:46997421G>A	ENST00000599531.1	-	1	2334	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	434										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGCCCCCGAAGAGGCCACGCC	0.672000													4	66					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938082	76938082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:76938082G>A	ENST00000373344.5	-	9	2880	c.2666C>T	c.(2665-2667)tCt>tTt	p.S889F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S851F	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	889					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTGCTGAAGAGAAAGTCTC	0.413000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						27	302					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73836179	73836179	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:73836179C>T	ENST00000207549.4	-	11	1250	c.871G>A	c.(871-873)Gcc>Acc	p.A291T	UNC13D_ENST00000412096.2_Missense_Mutation_p.A291T|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	291	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCGGCTGGCCGAAGTGGCT	0.662000									Familial Hemophagocytic Lymphohistiocytosis				3	34					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60757608	60757608	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:60757608C>T	ENST00000303375.5	+	15	2778	c.2376C>T	c.(2374-2376)tcC>tcT	p.S792S		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	792	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACCTGGCCTCCCTGCAGTGGG	0.652000													4	63					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998332	46998332	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:46998332G>A	ENST00000599531.1	-	1	1423	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.G148E|PNMAL2_ENST00000377655.2_Missense_Mutation_p.P131S	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	131										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCCGAAGCGGGAGGGGTGGGT	0.711000													7	139					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82069268	82069268	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:82069268T>A	ENST00000199936.4	+	1	432	c.239T>A	c.(238-240)gTg>gAg	p.V80E		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	80					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TTGTTACCTGTGGATCAGAAG	0.473000													7	154					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694154	153694154	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:153694154G>A	ENST00000369682.3	+	13	2671	c.2496G>A	c.(2494-2496)caG>caA	p.Q832Q		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	832					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTGAGCCAGAAGGGCACCC	0.672000													4	31					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900137	40900137	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:40900137G>A	ENST00000324001.7	-	7	4392	c.4122C>T	c.(4120-4122)gtC>gtT	p.V1374V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1374					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCGGACCCGGACCCGGCCCC	0.701000													6	53					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569508	248569508	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:248569508G>A	ENST00000366474.1	+	1	213	c.213G>A	c.(211-213)aaG>aaA	p.K71K		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TCAACAGAAAGGAAACCTCAG	0.428000													9	202					0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101395946	101395946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:101395946C>T	ENST00000372774.3	-	3	607	c.358G>A	c.(358-360)Gat>Aat	p.D120N	TCEAL6_ENST00000372773.1_Missense_Mutation_p.D120N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.D120N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TTGGGGGAATCGTCCGTCCCC	0.577000													11	100					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007476	6007476	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:6007476G>A	ENST00000399933.3	-	1	311	c.312C>T	c.(310-312)ccC>ccT	p.P104P	KIAA2026_ENST00000381461.2_Silent_p.P104P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	104										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CGCCCCCCAAGGGCTGCAGAA	0.721000													6	33					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710112	41710112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr21:41710112C>T	ENST00000400454.1	-	8	2176	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	567	Ig-like C2-type 6.				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.E567K(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)				TCGTCCACTTCCTTTTGCACA	0.493000													11	152					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58089729	58089729	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:58089729G>A	ENST00000357272.4	+	10	1692	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	FLNB_ENST00000490882.1_Silent_p.G509G|FLNB_ENST00000358537.3_Silent_p.G509G|FLNB_ENST00000348383.5_Silent_p.G509G|FLNB_ENST00000295956.4_Silent_p.G509G|FLNB_ENST00000493452.1_Silent_p.G340G|FLNB_ENST00000429972.2_Silent_p.G509G|FLNB_ENST00000419752.2_Silent_p.G340G			O75369	FLNB_HUMAN	filamin B, beta	509					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTCTGGATGGGGTCTACGCAT	0.527000													7	106					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968693	5968693	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:5968693C>T	ENST00000329564.6	+	1	124	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTCCTTTTCCTCTTGGCCG	0.592000													12	144					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30878929	30878929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:30878929G>A	ENST00000251071.5	-	9	2626	c.1876C>T	c.(1876-1878)Cag>Tag	p.Q626*	CAPRIN2_ENST00000395805.2_Nonsense_Mutation_p.Q626*|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.Q626*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.Q626*|CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.Q293*	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	626					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTTGAATCTGAGTCATCAGA	0.398000													7	83					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047026	9047026	+	Silent	SNP	C	C	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:9047026C>G	ENST00000397910.4	-	5	34808	c.34605G>C	c.(34603-34605)acG>acC	p.T11535T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11537	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						AGATAGTTGTCGTTGAAACAG	0.507000													7	102					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130509452	130509452	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:130509452C>A	ENST00000314830.8	-	6	1351	c.1238G>T	c.(1237-1239)aGc>aTc	p.S413I	SH2D3C_ENST00000373274.3_Missense_Mutation_p.S253I|SH2D3C_ENST00000373277.4_Missense_Mutation_p.S256I|SH2D3C_ENST00000373276.3_Missense_Mutation_p.S345I|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000420366.1_Missense_Mutation_p.S255I|SH2D3C_ENST00000429553.1_Missense_Mutation_p.S59I	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	413					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGAGCTAGGGCTCTCGGAGAT	0.607000													6	119					0.217242	0.217242	1	1	0
ATF7	11016	broad.mit.edu	37	12	53918429	53918429	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:53918429G>A	ENST00000420353.2	-	10	1193	c.1044C>T	c.(1042-1044)cgC>cgT	p.R348R	ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000456903.4_Silent_p.R348R|RP11-793H13.10_ENST00000591834.1_Silent_p.R348R|ATF7_ENST00000548446.2_Silent_p.R359R|ATF7_ENST00000328463.7_Silent_p.R359R|ATF7_ENST00000415113.1_Silent_p.R327R	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	359	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						TTTGGCGGCAGCGGGAGGCTG	0.607000													4	81					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87782314	87782314	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:87782314G>A	ENST00000270583.5	-	5	529	c.471C>T	c.(469-471)gtC>gtT	p.V157V	KLHDC4_ENST00000347925.5_Silent_p.V157V|KLHDC4_ENST00000353170.5_Silent_p.V100V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	157								p.V157V(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCAAATGCAGGACCCAGAGAT	0.567000													14	253					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48342874	48342874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:48342874C>T	ENST00000221996.7	+	4	756	c.550C>T	c.(550-552)Ccg>Tcg	p.P184S	CRX_ENST00000539067.1_Missense_Mutation_p.P184S|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	184					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GGCCTCAGGGCCGTCTCTGAC	0.672000													7	118					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49398633	49398633	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:49398633C>T	ENST00000221399.3	-	5	483	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	113					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CTGCTTCTGTCCGCGGTGTCG	0.612000													10	136					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7096290	7096290	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:7096290G>A	ENST00000399510.2	-	19	2821	c.1969C>T	c.(1969-1971)Cag>Tag	p.Q657*	DLG4_ENST00000399506.2_Nonsense_Mutation_p.Q614*|DLG4_ENST00000302955.6_Nonsense_Mutation_p.Q611*	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	614	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CGCACGGACTGGACGCTGGTC	0.612000													6	53					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148911	34148911	+	Silent	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:34148911A>T	ENST00000346193.3	-	1	1536	c.1485T>A	c.(1483-1485)ccT>ccA	p.P495P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	495			Missing.							NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGTCTTGGGAGGCTGCGAGT	0.652000													5	70					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461731	119461731	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:119461731G>A	ENST00000450136.1	+	2	1871	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Silent_p.S570S|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	570					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						ACTTCTTCTCGGAGAATGAGG	0.532000													4	67					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133258	91133258	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:91133258C>T	ENST00000373094.1	+	2	2864	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	PCDH11X_ENST00000361724.1_Silent_p.F673F|PCDH11X_ENST00000373097.1_Silent_p.F673F|PCDH11X_ENST00000361655.2_Silent_p.F673F|PCDH11X_ENST00000373088.1_Silent_p.F673F|PCDH11X_ENST00000504220.1_Silent_p.F673F|PCDH11X_ENST00000298274.8_Silent_p.F673F|PCDH11X_ENST00000406881.1_Silent_p.F673F|PCDH11X_ENST00000395337.2_Silent_p.F673F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	673	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AACCAGTTTTCATTGTCCCTC	0.423000													10	124					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154173241	154173241	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:154173241C>T	ENST00000336314.4	+	5	619	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	276							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CACTCGCCCACCGGAGCCTAG	0.547000													13	322					0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12819360	12819360	+	Missense_Mutation	SNP	C	C	T	rs143618581	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:12819360C>T	ENST00000288048.5	+	3	559	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	C1orf158_ENST00000376210.3_Missense_Mutation_p.R77C	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	115										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCACTCCGCACTTGGAA	0.542000													10	217					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180381721	180381721	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:180381721A>T	ENST00000273654.4	-	8	1015	c.396T>A	c.(394-396)taT>taA	p.Y132*	CCDC39_ENST00000442201.2_Nonsense_Mutation_p.Y48*			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	48					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCGCTCTTCATACTCACGTA	0.318000													12	120					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90440563	90440563	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:90440563C>T	ENST00000369393.3	-	35	5137	c.5022G>A	c.(5020-5022)aaG>aaA	p.K1674K	MDN1_ENST00000428876.1_Silent_p.K1674K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1674					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTCGTACTATCTTGGCAAGCC	0.393000													6	105					0	0	1	0	0
GADD45GIP1	90480	broad.mit.edu	37	19	13065259	13065259	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:13065259C>T	ENST00000316939.1	-	2	455	c.432G>A	c.(430-432)gaG>gaA	p.E144E		NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	144					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						CCTGGGCCTTCTCCCAGTTCT	0.642000													6	121					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76461356	76461356	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:76461356C>T	ENST00000307431.8	+	5	780	c.395C>T	c.(394-396)tCa>tTa	p.S132L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S108L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S136L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S132L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	133	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAGGGTTTTTCAGGAAATGCA	0.423000													9	211					0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12798616	12798616	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:12798616G>T	ENST00000381774.4	-	3	820	c.580C>A	c.(580-582)Cag>Aag	p.Q194K	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	194							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CAGTGCCGCTGCCTCGCGATG	0.602000													7	101					0.0293803	0.0294211	1	1	0
CT47B1	643311	broad.mit.edu	37	X	120008750	120008750	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:120008750C>T	ENST00000371311.3	-	1	1029	c.775_splice	c.e1+1	p.E259_splice		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	259										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCCCCTTACCCTCGGGGGCC	0.687000													5	86					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12067148	12067148	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:12067148C>T	ENST00000235329.5	+	17	2233	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	MFN2_ENST00000444836.1_Silent_p.S637S	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	637					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTGCCCTCTCCTTTGGGCTCT	0.632000													7	201					0	0	1	0	0
ATP5S	27109	broad.mit.edu	37	14	50798841	50798841	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:50798841C>T	ENST00000358473.1	+	5	588	c.588C>T	c.(586-588)gcC>gcT	p.A196A	CDKL1_ENST00000395834.1_Intron|CDKL1_ENST00000216378.2_3'UTR			Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	0					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TCCCTGGGGCCCTGGTTGATA	0.552000													6	43					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190234027	190234027	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:190234027G>A	ENST00000367462.3	-	4	817	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Missense_Mutation_p.H94Y|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		196						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)					TGAATGTGGTGAAGTCTCCGA	0.428000													6	116					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145657757	145657757	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:145657757C>T	ENST00000409379.3	-	23	3675	c.3646G>A	c.(3646-3648)Ggc>Agc	p.G1216S		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1216					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGGAGGGTGCCGGCGGGCAGG	0.657000													13	107					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38245379	38245379	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:38245379G>A	ENST00000412331.2	+	0	505					NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L							eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCGAGTGGGGCTGAACTTCC	0.632000													9	152					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33076110	33076110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr21:33076110G>A	ENST00000286835.7	-	4	671	c.289C>T	c.(289-291)Caa>Taa	p.Q97*	SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q82*|SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q97*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	97	CID.					nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TATAAATATTGGAATGTGGCA	0.269000													5	71					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094693	46094693	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:46094693C>T	ENST00000323040.4	-	2	1376	c.432G>A	c.(430-432)acG>acA	p.T144T	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	144						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCCGTGGCCCAGA	0.672000													8	127					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21798483	21798483	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:21798483G>A	ENST00000206660.6	+	19	3175	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E1059K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E1021K|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E385K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E716K|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E418K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1059	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TCAGCACGAGGAAGAGGAAAT	0.368000													10	94					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67412491	67412491	+	Splice_Site	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:67412491G>A	ENST00000329956.6	+	12	1825		c.e12-1		LRRC36_ENST00000435835.3_Splice_Site|LRRC36_ENST00000563189.1_Splice_Site|LRRC36_ENST00000541146.1_Splice_Site|LRRC36_ENST00000290940.7_Splice_Site	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36											endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTAATCTAAAGGAAAGTTTGA	0.423000													7	107					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158254059	158254059	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:158254059G>A	ENST00000296526.7	+	7	1296	c.971G>A	c.(970-972)aGg>aAg	p.R324K	GRIA2_ENST00000507898.1_Missense_Mutation_p.R277K|GRIA2_ENST00000393815.2_Missense_Mutation_p.R277K|GRIA2_ENST00000264426.9_Missense_Mutation_p.R324K|GRIA2_ENST00000449365.1_Missense_Mutation_p.R277K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	324					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATCTCCCGAAGGGGGAATGCA	0.483000													13	101					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587424	42587424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:42587424C>T	ENST00000289957.2	+	5	1102	c.974C>T	c.(973-975)tCt>tTt	p.S325F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	325					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACAGATCTTCTTCCACGTAC	0.453000													9	202					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455952	76455952	+	Silent	SNP	G	G	A	rs146469560		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:76455952G>A	ENST00000389840.5	-	60	9649	c.9525C>T	c.(9523-9525)atC>atT	p.I3175I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.I3184I					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)			TGCCCATCATGATCTTGGCCG	0.607000													7	89					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162402297	162402297	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:162402297C>T	ENST00000306100.5	-	13	1919	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	FSTL5_ENST00000379164.4_Missense_Mutation_p.G494R|FSTL5_ENST00000427802.2_Missense_Mutation_p.G485R|FSTL5_ENST00000536695.1_Missense_Mutation_p.G494R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	495						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACTTCATCTCCCTCAGCTTTG	0.373000													20	190					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52400896	52400896	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:52400896C>T	ENST00000420323.2	+	36	6019	c.5758C>T	c.(5758-5760)Cat>Tat	p.H1920Y		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1920	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCCTCACCCATGAGTGGTG	0.617000													10	112					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149916	202149916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:202149916C>T	ENST00000358485.4	+	8	1553	c.1357C>T	c.(1357-1359)Ccg>Tcg	p.P453S	CASP8_ENST00000264274.9_Missense_Mutation_p.P310S|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.P411S|CASP8_ENST00000432109.2_Missense_Mutation_p.P394S|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.P379S	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	394					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAGATATATCCCGGATGAGGC	0.468000										HNSCC(4;0.00038)			6	82					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220998	118220998	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:118220998C>T	ENST00000402510.2	-	11	4194	c.4195G>A	c.(4195-4197)Gga>Aga	p.G1399R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1399								p.G1223*(1)|p.G1399*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCATCTCTTCCTAGGAACCAA	0.443000													11	137					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553512	19553512	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:19553512C>T	ENST00000409832.3	+	1	148	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	32										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACTGCTTCCCCTGGTGCA	0.587000													20	427					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877723	2877723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:2877723G>A	ENST00000586426.1	+	4	851	c.764G>A	c.(763-765)gGg>gAg	p.G255E	ZNF556_ENST00000307635.2_Missense_Mutation_p.G256E			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCCGGAGGGAGACCGTAT	0.537000													4	69					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53715146	53715146	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:53715146G>A	ENST00000209873.4	-	1	269	c.104C>T	c.(103-105)cCc>cTc	p.P35L	AAAS_ENST00000394384.3_Missense_Mutation_p.P35L|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	35					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GAAGTCGGGGGGCGGGCTCTC	0.647000													8	164					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924697	188924697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:188924697C>T	ENST00000326866.4	+	4	1144	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ZFP42_ENST00000509524.1_Missense_Mutation_p.R246W	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	246					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGCCGTTTCGGTGCACTTT	0.522000													8	71					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16930543	16930543	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:16930543G>A	ENST00000377833.4	-	56	8843	c.8778C>T	c.(8776-8778)ggC>ggT	p.G2926G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2926	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCTGAAGGGCCAGTGAAAT	0.383000													7	159					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811287	23811287	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:23811287G>A	ENST00000314520.3	+	1	834	c.358G>A	c.(358-360)Gac>Aac	p.D120N	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	120						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)		CTATTCGCACGACCTTTCTGG	0.602000													7	95					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78324662	78324662	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:78324662G>A	ENST00000370791.3	+	9	1068	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	FAM73A_ENST00000443751.2_Missense_Mutation_p.E308K	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	346						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CTACAGCCTGGAGTCCCTTTG	0.448000													5	77					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154173242	154173242	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:154173242C>T	ENST00000336314.4	+	5	620	c.596C>T	c.(595-597)cCg>cTg	p.P199L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	276							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTCGCCCACCGGAGCCTAGA	0.552000													12	320					0	0	1	0	0
C1orf216	127703	broad.mit.edu	37	1	36181693	36181693	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:36181693G>A	ENST00000270815.4	-	2	1000	c.230C>T	c.(229-231)cCt>cTt	p.P77L		NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	77										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCCTTCCTCAGGGGATCCAGG	0.632000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	113					0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45997427	45997427	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:45997427G>A	ENST00000245923.4	-	4	1046	c.811C>T	c.(811-813)Cta>Tta	p.L271L	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Silent_p.L271L|RTN2_ENST00000590526.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	271						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGCTTACCTAGAAGGCGTGGC	0.512000													15	237					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43850781	43850781	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:43850781G>A	ENST00000372769.3	+	2	598	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	170	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ATGGGTTCATGGACTAAGTAA	0.423000													5	108					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70641764	70641764	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:70641764C>T	ENST00000298596.6	+	2	444	c.361C>T	c.(361-363)Cct>Tct	p.P121S	STOX1_ENST00000399165.4_Missense_Mutation_p.P121S|STOX1_ENST00000399169.4_Missense_Mutation_p.P121S|STOX1_ENST00000399162.2_Missense_Mutation_p.P121S|STOX1_ENST00000421961.2_Missense_Mutation_p.P11S	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	121						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TCAGTTCGTACCTTTGGGTGA	0.378000													9	157					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84432170	84432170	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:84432170G>A	ENST00000416219.2	+	2	254	c.165G>A	c.(163-165)aaG>aaA	p.K55K	ATP2C2_ENST00000262429.4_Silent_p.K55K			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	55					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGCCCCCCAAGGAAGCGTGCA	0.443000													4	41					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071204	70071204	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:70071204C>T	ENST00000370598.1	+	29	4860	c.4039C>T	c.(4039-4041)Cct>Tct	p.P1347S	BAI3_ENST00000546190.1_Missense_Mutation_p.P311S|BAI3_ENST00000238918.8_Missense_Mutation_p.P553S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1347					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAAAGTAAACCCTGAATTCAA	0.403000													6	113					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202854	39202854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:39202854G>A	ENST00000351578.6	-	2	399	c.209C>T	c.(208-210)tCt>tTt	p.S70F	FYB_ENST00000540520.1_Missense_Mutation_p.S80F|FYB_ENST00000512982.1_Missense_Mutation_p.S70F|FYB_ENST00000505428.1_Missense_Mutation_p.S70F|FYB_ENST00000515010.1_Missense_Mutation_p.S70F	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	70					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTTTTCCTCAGAAGAAGGTTT	0.537000													9	43					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373561	5373561	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:5373561G>A	ENST00000380219.1	+	1	824	c.824G>A	c.(823-825)aGc>aAc	p.S275N	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	275			S -> R (in dbSNP:rs5024042).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCACAATGAGCTACATCCAC	0.393000													9	178					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31864189	31864189	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:31864189G>A	ENST00000397525.1	-	4	493	c.270C>T	c.(268-270)gaC>gaT	p.D90D	EIF4ENIF1_ENST00000344710.5_Silent_p.D90D|EIF4ENIF1_ENST00000397523.1_Silent_p.D90D|EIF4ENIF1_ENST00000330125.5_Silent_p.D90D	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	90						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGGAAGGCCGGTCTGTATCCA	0.532000													7	112					0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6777002	6777002	+	Missense_Mutation	SNP	G	G	A	rs145358232		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:6777002G>A	ENST00000396795.1	-	9	1926	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000396801.3_Missense_Mutation_p.P538S|ZNF384_ENST00000361959.3_Missense_Mutation_p.P538S|ZNF384_ENST00000355772.4_Missense_Mutation_p.P422S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P477S|ZNF384_ENST00000319770.3_Missense_Mutation_p.P461S			Q8TF68	ZN384_HUMAN	zinc finger protein 384	538	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGAGGGTTGGGATTGCTGTCC	0.622000			T	"""EWSR1, TAF15 """	ALL								11	194					0	0	1	0	0
MYCL	4610	broad.mit.edu	37	1	40363483	40363483	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:40363483G>A	ENST00000397332.2	-	3	870	c.746C>T	c.(745-747)cCt>cTt	p.P249L	MYCL_ENST00000372816.2_Missense_Mutation_p.P219L|RP1-118J21.5_ENST00000418255.1_RNA	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																		GCTTTCTGGAGGAAAACGGGC	0.547000													9	141					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113937	56113937	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56113937C>T	ENST00000279783.2	+	1	517	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACGTGATCATCATGGCAGAGA	0.388000										HNSCC(65;0.19)			12	289					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15601076	15601076	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:15601076C>T	ENST00000382020.4	+	8	1100	c.892C>T	c.(892-894)Cta>Tta	p.L298L	TUSC3_ENST00000506802.1_Silent_p.L298L|TUSC3_ENST00000503731.1_Silent_p.L298L	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	298					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GATGGTTCTTCTAAATGAAGC	0.383000													10	188					0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34657100	34657100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:34657100C>T	ENST00000555003.1	+	5	1756	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	IL11RA_ENST00000602473.1_Missense_Mutation_p.P134S|IL11RA_ENST00000441545.2_Missense_Mutation_p.P134S|GALT_ENST00000556278.1_Missense_Mutation_p.278_278insS|IL11RA_ENST00000318041.9_Missense_Mutation_p.P134S|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000378817.4_Missense_Mutation_p.P134S			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	134	Fibronectin type-III 1.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CACTTGGAGTCCCAGCCAGAT	0.567000													10	96					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	907470	907470	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:907470C>T	ENST00000379409.2	+	8	991	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R269C|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.R281C			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	321	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCTCCCACTCCGTGCCGTCCA	0.667000													5	83					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569860	248569860	+	Missense_Mutation	SNP	C	C	T	rs140525966		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:248569860C>T	ENST00000366474.1	+	1	565	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			CATGAGCCGCCGGGTCTGTTG	0.547000													7	114					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGCTCTCGGAACATCTCG	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	43					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80037284	80037284	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:80037284C>T	ENST00000306749.2	-	42	7565	c.7347G>A	c.(7345-7347)aaG>aaA	p.K2449K	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2449	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGCCACCCGTCTTGGCGCGCA	0.652000													5	75					0	0	1	0	0
BMP8A	353500	broad.mit.edu	37	1	39988096	39988096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:39988096G>A	ENST00000331593.5	+	5	1236	c.890G>A	c.(889-891)gGc>gAc	p.G297D	RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	297					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCTCCCACGGCCGGCAGGTC	0.592000													7	87					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19709309	19709309	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:19709309T>A	ENST00000397977.3	+	17	2524	c.2126T>A	c.(2125-2127)cTg>cAg	p.L709Q		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	709					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CTTCAGACTCTGACCTGAGTG	0.542000													6	62					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176665274	176665274	+	Nonsense_Mutation	SNP	C	C	T	rs121908070		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:176665274C>T	ENST00000439151.2	+	7	4003	c.3958C>T	c.(3958-3960)Cga>Tga	p.R1320*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1051*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1217*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1051*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1320					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTTCTAGCCCGAGGTCGATC	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	184					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129140500	129140500	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:129140500C>T	ENST00000505956.1	-	2	358	c.196G>A	c.(196-198)Gag>Aag	p.E66K	EFCAB12_ENST00000326085.3_Missense_Mutation_p.E66K	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		GTCTGATCCTCCTTGCGAGGC	0.567000													7	59					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87782313	87782313	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:87782313G>A	ENST00000270583.5	-	5	530	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	KLHDC4_ENST00000347925.5_Silent_p.L158L|KLHDC4_ENST00000353170.5_Silent_p.L101L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	158										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCCAAATGCAGGACCCAGAGA	0.567000													15	253					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158924017	158924017	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:158924017C>T	ENST00000367097.3	+	13	4679	c.3322C>T	c.(3322-3324)Ccc>Tcc	p.P1108S	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1108					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAGGCACCCTCCCCTGCCTGA	0.627000													5	91					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48503378	48503378	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:48503378C>T	ENST00000417961.1	+	15	1839	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000541138.1_Silent_p.F227F|SLC9A8_ENST00000539601.1_Silent_p.F308F|SLC9A8_ENST00000361573.2_Silent_p.F527F	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	527						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	p.F527F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTAAGGGCTTCGTGTGGCTGG	0.627000													5	97					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83847818	83847818	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:83847818G>A	ENST00000349129.2	+	21	4317	c.4057G>A	c.(4057-4059)Gga>Aga	p.G1353R	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1334R|DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1344R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1353					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGGTTCTCCAGGATCTCGAAA	0.418000													17	181					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101340229	101340229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:101340229C>T	ENST00000259455.2	-	2	906	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	149					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCACCAGATTCCAGCCTTGGA	0.488000													5	73					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35740240	35740240	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:35740240C>T	ENST00000440995.2	+	23	3186	c.3186C>T	c.(3184-3186)ttC>ttT	p.F1062F	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.F1067F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1067					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAACAAGTTTCCAGGAGTTTC	0.378000													21	174					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925443	6925443	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:6925443C>T	ENST00000409757.4	+	2	451	c.327C>T	c.(325-327)tcC>tcT	p.S109S	TBC1D14_ENST00000448507.1_Silent_p.S109S	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	109						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CGCTGCCATCCTGTGCGCCAC	0.647000													20	185					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158641987	158641987	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:158641987C>T	ENST00000368148.3	-	11	1531		c.e11-1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTATTTCCATCTTTGGAAAGA	0.358000													4	42					0	0	1	0	0
TRIM23	373	broad.mit.edu	37	5	64892886	64892886	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:64892886G>A	ENST00000231524.9	-	8	1672	c.1301C>T	c.(1300-1302)cCa>cTa	p.P434L	TRIM23_ENST00000381018.3_Missense_Mutation_p.P434L|TRIM23_ENST00000274327.7_Missense_Mutation_p.P434L	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	434	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ACCAATTGTTGGAATGGGCTG	0.378000													8	164					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117263265	117263265	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:117263265C>T	ENST00000278935.3	+	19	2562	c.2415C>T	c.(2413-2415)gcC>gcT	p.A805A	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	805	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGAGGAGGCCCAGCTGCAGA	0.572000													5	66					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46806750	46806750	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:46806750G>A	ENST00000230588.4	+	14	2127	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	706	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCTACACGGGGGAGCGCTGTC	0.592000													7	169					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92797235	92797235	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:92797235C>T	ENST00000377067.3	+	7	1926	c.1554C>T	c.(1552-1554)atC>atT	p.I518I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	518						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CACTGAAGATCACAGACTGTA	0.378000													4	67					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8331682	8331682	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:8331682C>T	ENST00000381196.4	-	41	5977	c.5434G>A	c.(5434-5436)Gga>Aga	p.G1812R	PTPRD_ENST00000540109.1_Missense_Mutation_p.G1812R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1799R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1402R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1790R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1405R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1812R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1406R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1405R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1402R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1405R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1812	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTGGCACTCCTTGCTCTGGC	0.512000										TSP Lung(15;0.13)			29	175					0	0	1	0	0
FAM177B	400823	broad.mit.edu	37	1	222920367	222920367	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:222920367C>T	ENST00000445590.2	+	4	451	c.185C>T	c.(184-186)tCc>tTc	p.S62F	FAM177B_ENST00000360827.2_Missense_Mutation_p.S62F	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	62										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						TCTAAACTTTCCTGGGGGCCC	0.353000													8	113					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266481	65266481	+	RNA	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:65266481C>T	ENST00000534336.1	+	0	1249					NR_002819.2																						GAGTTGTTCTCCGTCTATAAA	0.537000													7	144					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230826	56230826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56230826G>A	ENST00000279791.1	-	1	51	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGCTCCTGACGACAGGTCAGC	0.428000													4	48					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131596036	131596036	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:131596036G>A	ENST00000436267.2	-	14	1623	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	CCBL1_ENST00000302586.3_Missense_Mutation_p.R398C|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.R348C			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	398					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	AAACAGAAGCGGATATAGTGG	0.547000													5	49					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150935357	150935357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:150935357C>T	ENST00000035307.2	+	4	3422	c.1909C>T	c.(1909-1911)Cca>Tca	p.P637S	CHPF2_ENST00000495645.1_Missense_Mutation_p.P629S	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	637	Gly/Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GAGATCACCCCCAGGGCCCCC	0.652000													5	52					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112403781	112403781	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:112403781G>A	ENST00000302475.4	-	11	2018	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	MCC_ENST00000408903.3_Silent_p.S675S|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.S422S	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	485					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ACTTACCAGGGGAGGACCCCA	0.612000													5	69					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													4	31					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039162	75039162	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:75039162A>T	ENST00000326665.5	-	14	2450	c.2232T>A	c.(2230-2232)aaT>aaA	p.N744K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	744	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCACCATGAAATTCATTGTTG	0.368000													6	110					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145746089	145746089	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:145746089C>T	ENST00000292524.1	+	3	943	c.797C>T	c.(796-798)tCc>tTc	p.S266F	LRRC14_ENST00000529022.1_Missense_Mutation_p.S266F	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	266										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGCAGCCCTCCGTGGATGGC	0.637000													14	76					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70639431	70639431	+	Missense_Mutation	SNP	C	C	T	rs150284256	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:70639431C>T	ENST00000322773.4	+	6	607	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	169	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.R169C(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTGTTTGATCGTCAGTGGCA	0.403000													7	121					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20403884	20403884	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:20403884C>T	ENST00000285600.4	+	1	118	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	20					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)		CTCTCTAATTCCTGGGGACTT	0.348000													23	336					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122930406	122930406	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:122930406G>A	ENST00000534624.1	-	5	1171	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C	HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Missense_Mutation_p.R299C|HSPA8_ENST00000534319.1_Missense_Mutation_p.R63C|HSPA8_ENST00000533540.1_Missense_Mutation_p.R153C|HSPA8_ENST00000532636.1_Missense_Mutation_p.R299C|HSPA8_ENST00000526110.1_Missense_Mutation_p.R280C|HSPA8_ENST00000453788.2_Missense_Mutation_p.R299C	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	299	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AATCGGGCACGGGTAATGGAG	0.498000													5	71					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262388	167262388	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:167262388C>T	ENST00000409855.1	-	25	4877	c.4751G>A	c.(4750-4752)aGa>aAa	p.R1584K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1584					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1584I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACCCATAACTCTCTTTGTAAA	0.428000													17	241					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34383840	34383840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:34383840G>A	ENST00000373381.4	-	5	951	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	219	CUB 2.					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)				TACTCCGAGGGGAAGTGGGGG	0.582000													4	50					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150911397	150911397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:150911397G>A	ENST00000261800.5	-	13	9574	c.9562C>T	c.(9562-9564)Cgt>Tgt	p.R3188C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3188	Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAGGCACGGACCGTGAGC	0.642000													11	142					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104089344	104089344	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:104089344G>A	ENST00000388887.2	+	32	3596	c.3392G>A	c.(3391-3393)aGa>aAa	p.R1131K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1131					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTCCCACAAAGACGTCTAACT	0.468000													6	69					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43821159	43821159	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:43821159G>A	ENST00000417669.1	+	2	612	c.168G>A	c.(166-168)caG>caA	p.Q56Q	MPPED1_ENST00000538182.1_Silent_p.Q89Q|MPPED1_ENST00000443721.1_Silent_p.Q56Q|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Silent_p.Q56Q			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	56							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				ACCCCACCCAGGCCTTCACCT	0.657000													5	60					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21565494	21565494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:21565494G>A	ENST00000382592.4	-	3	797	c.392C>T	c.(391-393)gCc>gTc	p.A131V	LATS2_ENST00000542899.1_Missense_Mutation_p.A131V|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	131	UBA.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCCAGGGCGGCCTCGATGCT	0.577000													7	60					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144663268	144663268	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:144663268C>G	ENST00000532741.1	-	5	1822	c.1594G>C	c.(1594-1596)Gag>Cag	p.E532Q	EEF1D_ENST00000317198.6_Missense_Mutation_p.E116Q|EEF1D_ENST00000442189.2_Missense_Mutation_p.E482Q|EEF1D_ENST00000528610.1_Missense_Mutation_p.E92Q|EEF1D_ENST00000529272.1_Missense_Mutation_p.E116Q|EEF1D_ENST00000395119.3_Missense_Mutation_p.E116Q|EEF1D_ENST00000423316.2_Missense_Mutation_p.E482Q|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Missense_Mutation_p.E97Q|EEF1D_ENST00000531621.1_Missense_Mutation_p.E73Q|EEF1D_ENST00000419152.2_Missense_Mutation_p.E116Q|EEF1D_ENST00000524624.1_Missense_Mutation_p.E92Q			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	116					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GAGCTCTTCTCCAGCACGTTC	0.682000													6	92					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059022	11059022	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:11059022C>T	ENST00000287766.4	+	3	546	c.125C>T	c.(124-126)cCc>cTc	p.P42L	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron|SLC6A1_ENST00000462473.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	42					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCAGACCTCCCCGACCGGGAC	0.637000													6	77					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574004	7574004	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:7574004G>C	ENST00000269305.4	-	10	1212	c.1023C>G	c.(1021-1023)ttC>ttG	p.F341L	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.F341L|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	341	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		F -> C (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.R342fs*3(5)|p.I332fs*5(1)|p.R342*(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCAGCTCTCGGAACATCTCGA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	44					0	0	1	0	0
GALNT16	57452	broad.mit.edu	37	14	69799833	69799833	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:69799833G>A	ENST00000337827.4	+	8	1137	c.810G>A	c.(808-810)gaG>gaA	p.E270E	GALNT16_ENST00000448469.3_Silent_p.E270E|GALNT16_ENST00000553669.1_Silent_p.E270E	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		TCAAGTGGGAGCAGATCCCTC	0.612000													5	78					0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98105699	98105699	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:98105699C>T	ENST00000419479.1	-	7	902	c.395G>A	c.(394-396)tGa>tAa	p.*132*	OPALIN_ENST00000371172.3_Silent_p.*142*|OPALIN_ENST00000536387.1_Silent_p.*132*|OPALIN_ENST00000393870.2_Silent_p.*131*|OPALIN_ENST00000393871.1_Silent_p.*119*	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	0						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TGAGCTGCATCATTCCAGGCT	0.517000													7	157					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220904	118220904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:118220904C>T	ENST00000402510.2	-	11	4288	c.4289G>A	c.(4288-4290)gGg>gAg	p.G1430E		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1430										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGTGAACTTCCCAGGTTTGGT	0.438000													8	99					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44019309	44019309	+	Splice_Site	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:44019309G>A	ENST00000359947.4	+	4	577		c.e4+1		PTPRF_ENST00000372414.3_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site|PTPRF_ENST00000372413.3_Splice_Site	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCGCTTCGAGGTGCGTCTGTG	0.597000													9	215					0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108137032	108137032	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:108137032G>C	ENST00000426128.2	-	6	1746	c.1621C>G	c.(1621-1623)Ctt>Gtt	p.L541V	PNPLA8_ENST00000453144.1_Missense_Mutation_p.L441V|PNPLA8_ENST00000422087.1_Missense_Mutation_p.L541V|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000257694.8_Missense_Mutation_p.L541V|PNPLA8_ENST00000436062.1_Missense_Mutation_p.L541V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.L541V	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	541	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ACTTACTTAAGAATGTTTTCC	0.264000													5	74					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8178638	8178638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:8178638C>T	ENST00000402384.3	-	11	1261	c.995G>A	c.(994-996)gGc>gAc	p.G332D	ICA1_ENST00000396675.3_Missense_Mutation_p.G332D|ICA1_ENST00000422063.2_Missense_Mutation_p.G361D|ICA1_ENST00000401396.1_Missense_Mutation_p.G320D|ICA1_ENST00000265577.7_Missense_Mutation_p.G331D|ICA1_ENST00000406470.2_Missense_Mutation_p.G332D			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	332					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.G332D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATGTGTAGAGCCTTTGTCTAA	0.353000													7	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584052	179584052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:179584052C>T	ENST00000589042.1	-	83	24289	c.24065G>A	c.(24064-24066)gGa>gAa	p.G8022E	TTN_ENST00000591111.1_Missense_Mutation_p.G7705E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6778E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7705	Ig-like 62.						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)			AATCTCATTTCCATCCTGAAA	0.512000													16	186					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760591	19760591	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:19760591G>T	ENST00000357324.6	-	18	2520	c.2494C>A	c.(2494-2496)Ccc>Acc	p.P832T	ATP13A1_ENST00000291503.5_Missense_Mutation_p.P714T	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	832					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGCACATGGGGGATGAGGCGG	0.677000													6	107					0.0215528	0.0216126	1	1	0
HEATR5A	25938	broad.mit.edu	37	14	31762743	31762743	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:31762743G>A	ENST00000543095.2	-	36	6093	c.5909C>T	c.(5908-5910)aCt>aTt	p.T1970I	HEATR5A_ENST00000389961.3_Missense_Mutation_p.T1964I|HEATR5A_ENST00000439348.1_Missense_Mutation_p.T1889I|HEATR5A_ENST00000439727.1_Missense_Mutation_p.T1677I|RP11-596D21.1_ENST00000551799.1_RNA	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1964							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CATTATGGAAGTTGCTGATCC	0.378000													16	111					0	0	1	0	0
ZNF571	51276	broad.mit.edu	37	19	38056756	38056756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:38056756C>T	ENST00000328550.2	-	4	673	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.E192K|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E192K|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.E192K|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGGTTTCTCACCAGTCTGA	0.348000													5	75					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746581	77746581	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:77746581C>T	ENST00000409088.3	-	3	828	c.414G>A	c.(412-414)ctG>ctA	p.L138L	LRRTM4_ENST00000409282.1_Silent_p.L139L|LRRTM4_ENST00000409884.1_Silent_p.L138L|LRRTM4_ENST00000409911.1_Silent_p.L139L|LRRTM4_ENST00000409093.1_Silent_p.L138L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	138						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGGAGAGGTCCAGATTGCGGA	0.383000													5	86					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516315	118516315	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:118516315G>A	ENST00000361417.2	+	17	3774	c.3363G>A	c.(3361-3363)gaG>gaA	p.E1121E	PHLDB1_ENST00000524713.1_Silent_p.E264E|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Silent_p.E1074E|PHLDB1_ENST00000527898.1_Silent_p.E172E	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1121										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACAGCATGGAGACCAGCATCT	0.657000													10	144					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82335547	82335547	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:82335547G>C	ENST00000329713.4	-	2	2099	c.1664C>G	c.(1663-1665)cCg>cGg	p.P555R	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	555					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	p.P555L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GTGGCAGACCGGGCACTCGGG	0.637000													5	91					0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37974971	37974971	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:37974971G>A	ENST00000330173.1	+	5	976	c.447G>A	c.(445-447)gaG>gaA	p.E149E	ZNF570_ENST00000586475.1_Silent_p.E205E|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	149					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)			TCAAGGAAGAGATAATCACTC	0.388000													9	248					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919781	12919781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:12919781G>T	ENST00000240189.2	+	3	608	c.521G>T	c.(520-522)aGg>aTg	p.R174M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	174										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTACCAAAGGAGAGGTTTA	0.403000													25	592					6.36457e-07	6.48127e-07	1	1	0
PER1	5187	broad.mit.edu	37	17	8049698	8049698	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:8049698G>A	ENST00000317276.4	-	16	2267	c.2030C>T	c.(2029-2031)aCc>aTc	p.T677I	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_Missense_Mutation_p.T661I|PER1_ENST00000581082.1_Missense_Mutation_p.T657I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	677	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCTTTCTTGGTCCCCACAGA	0.592000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					11	168					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9453970	9453970	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:9453970C>T	ENST00000378501.2	+	34	3432	c.3417C>T	c.(3415-3417)gtC>gtT	p.V1139V	PLCB4_ENST00000378493.1_Silent_p.V1139V|PLCB4_ENST00000414679.2_Silent_p.V1151V|PLCB4_ENST00000378473.3_Silent_p.V1151V|PLCB4_ENST00000334005.3_Silent_p.V1139V|PLCB4_ENST00000278655.4_Silent_p.V1139V|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1139					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAAAAAAGTCCAGCTTGAAC	0.348000													10	87					0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18649037	18649037	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:18649037G>C	ENST00000597960.2	-	5	881	c.761C>G	c.(760-762)tCc>tGc	p.S254C	FKBP8_ENST00000222308.3_Missense_Mutation_p.S254C|FKBP8_ENST00000596558.1_Missense_Mutation_p.S253C|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000453489.2_Missense_Mutation_p.S282C			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	253					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TTTGGCGCTGGAGGTGATAGC	0.637000													7	131					0	0	1	0	0
LTBR	4055	broad.mit.edu	37	12	6499948	6499948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:6499948C>T	ENST00000228918.4	+	10	1479	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	LTBR_ENST00000541102.1_Missense_Mutation_p.P242S|LTBR_ENST00000539925.1_Missense_Mutation_p.P366S	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	385					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CCCCGAACCTCCATACCCCAT	0.617000													9	186					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11522984	11522984	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:11522984G>A	ENST00000262442.3	+	6	1304	c.1236G>A	c.(1234-1236)agG>agA	p.R412R	DNAH9_ENST00000454412.2_Silent_p.R412R|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	412	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGACAGAAGGGAGAATCTCC	0.458000													19	180					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122288166	122288166	+	Silent	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:122288166T>C	ENST00000296161.4	+	3	1419	c.1230T>C	c.(1228-1230)tcT>tcC	p.S410S	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	410					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GCAAGGTTTCTGAGAAAGGTC	0.388000													8	167					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281824	125281824	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:125281824C>T	ENST00000340750.1	+	1	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ACACCACTATCATGAAAGAGG	0.468000													19	156					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30006111	30006111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:30006111C>T	ENST00000279392.3	-	4	1185	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	HIRIP3_ENST00000566471.1_5'UTR|HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	119					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GCTGCCACCCCATTCTTTGCT	0.587000													8	128					0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124929171	124929171	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:124929171T>A	ENST00000536616.1	+	2	210	c.172T>A	c.(172-174)Tgg>Agg	p.W58R	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.W58R			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	58										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						CGACGCCATTTGGGAAAACGG	0.552000													4	34					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95795139	95795139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:95795139C>T	ENST00000375482.3	+	16	2265	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V	FGD3_ENST00000538555.1_Missense_Mutation_p.A193V|FGD3_ENST00000337352.6_Missense_Mutation_p.A590V|FGD3_ENST00000416701.2_Missense_Mutation_p.A590V	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	590					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CAGCCAGTGGCCCCTGAGAGC	0.632000													8	144					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37264408	37264408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:37264408G>A	ENST00000315392.4	-	5	771	c.560C>T	c.(559-561)tCc>tTc	p.S187F	PLXDC1_ENST00000394316.2_Missense_Mutation_p.S187F|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S147F|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Missense_Mutation_p.S114F	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	187					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGAGTTGTCGGAGTAGCCAGG	0.527000													13	175					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477319	110477319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:110477319C>T	ENST00000378402.5	+	49	8362	c.8258C>T	c.(8257-8259)gCt>gTt	p.A2753V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2753					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACTGTGTAGCTTTGGGAGTG	0.468000										HNSCC(38;0.096)			21	157					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69173532	69173532	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:69173532G>A	ENST00000481498.1	-	5	394	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	GKN2_ENST00000328895.4_Silent_p.L126L			Q86XP6	GKN2_HUMAN	gastrokine 2	126	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						TCTTTGATCAGAGACTCCAGA	0.428000													12	224					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43850782	43850782	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:43850782G>A	ENST00000372769.3	+	2	599	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	170	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGGGTTCATGGACTAAGTAAA	0.423000													5	108					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77286941	77286941	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:77286941G>A	ENST00000341514.6	+	16	3310	c.3155G>A	c.(3154-3156)gGa>gAa	p.G1052E	ATP7A_ENST00000343533.5_Missense_Mutation_p.G974E|ATP7A_ENST00000350425.4_Missense_Mutation_p.G55E	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1052					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.G1052V(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ATTACTCACGGAACCCCAGTG	0.378000													6	110					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072372	234072372	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:234072372G>A	ENST00000359570.5	+	14	1224	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	INPP5D_ENST00000538935.1_Silent_p.K407K|INPP5D_ENST00000455936.2_Silent_p.K172K|INPP5D_ENST00000450745.1_Silent_p.K172K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	420					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCCCTCCCAAGAAGATCACGT	0.542000													6	162					0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100057967	100057967	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:100057967C>T	ENST00000394140.3	+	2	135	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	15	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CAGATTTCTTCCATCAAATCA	0.488000													16	244					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548345	50548345	+	Silent	SNP	G	G	A	rs145882419		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:50548345G>A	ENST00000595661.1	+	6	1140	c.645G>A	c.(643-645)ggG>ggA	p.G215G	ZNF473_ENST00000391821.2_Silent_p.G215G|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.G203G|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.G215G			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	215					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGAATGTGGGAAAAGCTTCA	0.478000													6	114					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26610677	26610677	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:26610677C>T	ENST00000314675.7	-	8	752	c.673G>A	c.(673-675)Ggc>Agc	p.G225S	UBXN11_ENST00000374221.3_Missense_Mutation_p.G345S|UBXN11_ENST00000357089.4_Missense_Mutation_p.G312S|UBXN11_ENST00000374217.2_Missense_Mutation_p.G312S|UBXN11_ENST00000374223.1_Missense_Mutation_p.G102S|UBXN11_ENST00000374222.1_Missense_Mutation_p.G345S	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	345						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ATCACCTCGCCTTGCCGGATC	0.592000													11	186					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28409990	28409990	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:28409990G>A	ENST00000394835.3	+	18	3700	c.3508G>A	c.(3508-3510)Ggc>Agc	p.G1170S	EFCAB5_ENST00000320856.5_Missense_Mutation_p.G1046S|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1170							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CACTGGCATAGGCTGGCTTTA	0.498000													5	80					0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30709056	30709056	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:30709056G>A	ENST00000376389.3	-	5	485	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Intron	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	89						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						GTCTTCCCCAGGAACATCTGA	0.582000													9	138					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	375641	375641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:375641G>A	ENST00000329962.6	+	10	853	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	285						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCCCAGATGAGTCAGCCTT	0.662000													5	85					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60575778	60575778	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:60575778C>T	ENST00000252996.3	-	10	2486		c.e10-1		TAF4_ENST00000488539.1_Splice_Site	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATCATCGTCCCTTGAGGAAAG	0.498000													6	77					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21565493	21565493	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:21565493G>A	ENST00000382592.4	-	3	798	c.393C>T	c.(391-393)gcC>gcT	p.A131A	LATS2_ENST00000542899.1_Silent_p.A131A|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	131	UBA.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ACTCCAGGGCGGCCTCGATGC	0.577000													7	62					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141248194	141248194	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:141248194C>T	ENST00000287008.3	-	2	990	c.843G>A	c.(841-843)gaG>gaA	p.E281E	PCDH1_ENST00000536585.1_Silent_p.E259E|PCDH1_ENST00000456271.1_Silent_p.E269E|PCDH1_ENST00000503492.1_Silent_p.E281E|PCDH1_ENST00000394536.3_Silent_p.E281E	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	281	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGGAGGGCCGCTCAAACTTGG	0.617000													5	60					0	0	1	0	0
FAM72A	729533	broad.mit.edu	37	1	206145508	206145508	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:206145508C>T	ENST00000367128.3	+	3	1133	c.285C>T	c.(283-285)tcC>tcT	p.S95S	FAM72A_ENST00000341209.5_Silent_p.S55S|FAM72A_ENST00000470041.1_3'UTR|FAM72A_ENST00000367129.2_Silent_p.S95S			Q5TYM5	FA72A_HUMAN	family with sequence similarity 72, member A	95										endometrium(2)	2						GTCTTCTTTCCTGCAACAACG	0.388000													21	426					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21857053	21857053	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:21857053C>T	ENST00000434536.1	+	24	2779	c.2677C>T	c.(2677-2679)Ccc>Tcc	p.P893S	XPO7_ENST00000433566.4_Missense_Mutation_p.P885S|XPO7_ENST00000252512.9_Missense_Mutation_p.P884S			Q9UIA9	XPO7_HUMAN	exportin 7	884					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ACAGGATTACCCCAAGCTCAG	0.458000													7	164					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129140501	129140501	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:129140501C>T	ENST00000505956.1	-	2	357	c.195G>A	c.(193-195)aaG>aaA	p.K65K	EFCAB12_ENST00000326085.3_Silent_p.K65K	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TCTGATCCTCCTTGCGAGGCA	0.562000													7	58					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55399706	55399706	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:55399706G>A	ENST00000469767.1	+	4	704	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	FCAR_ENST00000355524.3_Intron|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000359272.4_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391725.3_Intron|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000345937.4_Intron	NM_133279.2	NP_579813.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TGGCTGTCCAGGGCCTTGCCA	0.587000													4	25					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55863612	55863612	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:55863612C>T	ENST00000388975.3	-	10	1409	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	431					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTATTATTTCTTACGATGTT	0.373000													9	86					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801657	185801657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:185801657G>A	ENST00000302277.6	+	4	2128	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	512						intracellular	zinc ion binding	p.E512K(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACTGATTATGAAATTGGAAG	0.388000													9	157					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167673973	167673973	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:167673973C>T	ENST00000519204.1	+	26	5784	c.5666C>T	c.(5665-5667)tCc>tTc	p.S1889F	TENM2_ENST00000403607.2_Missense_Mutation_p.S1834F|TENM2_ENST00000520394.1_Missense_Mutation_p.S1771F|TENM2_ENST00000518659.1_Missense_Mutation_p.S2010F|TENM2_ENST00000545108.1_Missense_Mutation_p.S2009F					teneurin transmembrane protein 2																		CTGAAGACCTCCTTTTTGGGC	0.507000													6	127					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52370217	52370217	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:52370217C>T	ENST00000257963.4	+	3	515	c.438C>T	c.(436-438)ttC>ttT	p.F146F	ACVR1B_ENST00000542485.1_Silent_p.F94F|ACVR1B_ENST00000426655.2_Silent_p.F146F|ACVR1B_ENST00000541224.1_Silent_p.F146F|ACVR1B_ENST00000415850.2_Silent_p.F146F	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	146			F -> L (in dbSNP:rs34488074).		G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCATTGTTTTCCTTGTCATTA	0.537000													7	128					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450831	85450831	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:85450831G>A	ENST00000393217.2	+	8	2321	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	754										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACCTTGGCTTGAAATTTTCAA	0.378000													22	445					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236718729	236718729	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:236718729C>T	ENST00000366582.3	-	41	5904	c.5790G>A	c.(5788-5790)aaG>aaA	p.K1930K	HEATR1_ENST00000366581.2_Silent_p.K1849K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1930					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACAACCTGTCCTTTGGGGCAT	0.413000													16	150					0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094866	139094866	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:139094866C>T	ENST00000332797.6	+	1	210	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	19										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GGCGGGGCTTCCGCTTGGGGC	0.627000													16	225					0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6777001	6777001	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:6777001G>A	ENST00000396795.1	-	9	1927	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000396801.3_Missense_Mutation_p.P538L|ZNF384_ENST00000361959.3_Missense_Mutation_p.P538L|ZNF384_ENST00000355772.4_Missense_Mutation_p.P422L|ZNF384_ENST00000396799.2_Missense_Mutation_p.P477L|ZNF384_ENST00000319770.3_Missense_Mutation_p.P461L			Q8TF68	ZN384_HUMAN	zinc finger protein 384	538	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TGGAGGGTTGGGATTGCTGTC	0.622000			T	"""EWSR1, TAF15 """	ALL								11	195					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350966	56350966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:56350966G>A	ENST00000340482.3	-	8	1702	c.1526C>T	c.(1525-1527)cCc>cTc	p.P509L	MPO_ENST00000225275.3_Missense_Mutation_p.P477L			P05164	PERM_HUMAN	myeloperoxidase	477					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ACGGTACGTGGGCAGGTACTT	0.562000													7	196					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079617	57079617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:57079617G>A	ENST00000316981.3	-	5	1167	c.688C>T	c.(688-690)Cga>Tga	p.R230*	PLAG1_ENST00000429357.2_Nonsense_Mutation_p.R230*|PLAG1_ENST00000423799.2_Nonsense_Mutation_p.R148*	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	230	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TTCATATGTCGAGTCAGGTGA	0.463000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								22	144					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99251266	99251266	+	Silent	SNP	G	G	A	rs17847210	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:99251266G>A	ENST00000268035.6	+	2	1181	c.570G>A	c.(568-570)ccG>ccA	p.P190P	IGF1R_ENST00000558762.1_Silent_p.P190P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	190					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AGGAGAAGCCGATGTGTGAGA	0.517000													8	144					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726803	32726803	+	Missense_Mutation	SNP	C	C	T	rs114730424	by1000genomes	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:32726803C>T	ENST00000435145.2	-	3	531	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.R157Q|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R157Q			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	157					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCGAAACCACCGGACTTTGAT	0.547000													4	70					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020471	73020471	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:73020471G>A	ENST00000263674.3	+	1	1138	c.788G>A	c.(787-789)gGa>gAa	p.G263E		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	263					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGCTGCCTGGAGCCCAGAGT	0.721000													4	45					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38350679	38350679	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:38350679G>A	ENST00000322350.5	+	4	714	c.368G>A	c.(367-369)gGg>gAg	p.G123E	EGFLAM_ENST00000354891.3_Missense_Mutation_p.G123E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	123	Fibronectin type-III 1.					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)					GCTGGCAAAGGGCGGCTGAGC	0.478000													10	86					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180243576	180243576	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:180243576G>A	ENST00000263726.2	+	6	1279	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	345						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CGCATGCAGGGCAGGGAGTAA	0.567000													14	387					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71443988	71443988	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:71443988C>T	ENST00000304743.2	+	6	1380	c.934C>T	c.(934-936)Cca>Tca	p.P312S	PCNX_ENST00000439984.3_Missense_Mutation_p.P312S|PCNX_ENST00000238570.5_Missense_Mutation_p.P312S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	312						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGGATTAGATCCAGTTAGTGA	0.463000													20	140					0	0	1	0	0
MTG2	26164	broad.mit.edu	37	20	60774195	60774195	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:60774195G>A	ENST00000370823.3	+	6	726	c.708G>A	c.(706-708)ggG>ggA	p.G236G	MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_Silent_p.G8G	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		CCAACGCCGGGAAGTCCTCAC	0.622000													5	73					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560392	44560392	+	Silent	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:44560392C>A	ENST00000289547.4	-	14	3163	c.3108G>T	c.(3106-3108)gtG>gtT	p.V1036V	NPC1L1_ENST00000546276.1_Silent_p.V990V|NPC1L1_ENST00000381160.3_Silent_p.V1036V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1036					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAGTCAAGTTCACAGAGGTGC	0.577000													6	136					3.59834e-05	3.64887e-05	1	1	0
C7orf63	79846	broad.mit.edu	37	7	89939476	89939476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:89939476C>T	ENST00000389297.4	+	23	3001	c.2750C>T	c.(2749-2751)cCc>cTc	p.P917L	C7orf63_ENST00000497910.1_Missense_Mutation_p.P899L|C7orf63_ENST00000316089.8_Missense_Mutation_p.P871L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	917							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAAAAACTGCCCATTCGAGGA	0.428000													7	105					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157352593	157352593	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:157352593C>T	ENST00000310454.6	+	3	512	c.140C>T	c.(139-141)tCa>tTa	p.S47L	GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.S47L|GPD2_ENST00000409674.1_Missense_Mutation_p.S47L|GPD2_ENST00000540309.1_Missense_Mutation_p.S47L	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	47					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GACTGCATTTCAGAACCAGTT	0.398000													4	59					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363276	108363276	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:108363276C>T	ENST00000361582.3	+	14	1637	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	DZIP3_ENST00000463306.1_Silent_p.L469L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	469					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ACTTATGCCTCCTGTTAGCTC	0.423000													10	193					0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91929184	91929184	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:91929184T>G	ENST00000554684.1	-	12	2325	c.1829A>C	c.(1828-1830)aAt>aCt	p.N610T	SMEK1_ENST00000554943.1_Missense_Mutation_p.N623T|SMEK1_ENST00000337238.4_Missense_Mutation_p.N610T|SMEK1_ENST00000428424.2_Missense_Mutation_p.N384T|SMEK1_ENST00000555462.1_Missense_Mutation_p.N384T|SMEK1_ENST00000555718.1_5'UTR			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	623						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTTCCAGTAATTTTCAATTAC	0.299000													18	157					0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122576	75122576	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:75122576G>A	ENST00000395018.4	+	3	515	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	120						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						GGAGGAGAAGGCCTCAGTCCT	0.612000													5	80					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94056539	94056539	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:94056539C>T	ENST00000297268.6	+	48	3670	c.3199C>T	c.(3199-3201)Cgc>Tgc	p.R1067C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1067					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAAAGATGGTCGCACTGGACA	0.547000										HNSCC(75;0.22)			5	36					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970359	108970359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:108970359T>C	ENST00000276659.5	-	5	1185	c.565A>G	c.(565-567)Acc>Gcc	p.T189A	RSPO2_ENST00000517939.1_Missense_Mutation_p.T122A|RSPO2_ENST00000517781.1_Missense_Mutation_p.T125A|RSPO2_ENST00000378439.2_Missense_Mutation_p.T125A	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	189	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCAGCAATGGTTGGACACAGT	0.428000													32	285					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114159	56114159	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56114159C>T	ENST00000279783.2	+	1	739	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATTTGCTCTTCTCCCTCTCAA	0.383000										HNSCC(65;0.19)			9	142					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118942967	118942967	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:118942967G>A	ENST00000467604.1	-	5	1003	c.612C>T	c.(610-612)aaC>aaT	p.N204N	B4GALT4_ENST00000393765.2_Silent_p.N204N|B4GALT4_ENST00000483209.1_Silent_p.N204N|B4GALT4_ENST00000359213.3_Silent_p.N204N|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	204					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	ACTTGTAAAGGTTAAAGTCAT	0.493000													6	83					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44598648	44598648	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:44598648G>A	ENST00000273320.3	+	2	538	c.109G>A	c.(109-111)Ggg>Agg	p.G37R	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.G37R|ZKSCAN7_ENST00000431636.1_Missense_Mutation_p.G37R|ZKSCAN7_ENST00000341840.3_Missense_Mutation_p.G37R	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		CCAGACCTGGGGGCAGGGCAG	0.572000													5	109					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102483342	102483342	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:102483342G>A	ENST00000369138.1	+	14	2702	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	GRIK2_ENST00000421544.1_Missense_Mutation_p.E738K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E738K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E738K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E662K|GRIK2_ENST00000369134.4_Missense_Mutation_p.E689K	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	738					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTTCCTAATGGAGTCAACAAC	0.478000													14	299					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1677502	1677502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:1677502C>T	ENST00000252804.4	-	9	981	c.931G>A	c.(931-933)Gac>Aac	p.D311N	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	311	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATACCCTGGTCTGTCTCCTGT	0.527000													9	186					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123101542	123101542	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:123101542G>A	ENST00000466202.1	-	11	2452	c.1876C>T	c.(1876-1878)Cgt>Tgt	p.R626C	IQUB_ENST00000324698.6_Missense_Mutation_p.R626C			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	626										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATGCAGTTACGACACCGGTAT	0.368000													9	85					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104922645	104922645	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:104922645G>A	ENST00000262231.10	+	3	1393	c.1145G>A	c.(1144-1146)gGt>gAt	p.G382D	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	605					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGTACTTTGGTGGCCACTCT	0.458000										HNSCC(12;0.0054)			12	115					0	0	1	0	0
PNMA1	9240	broad.mit.edu	37	14	74180036	74180036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:74180036C>T	ENST00000316836.3	-	1	1092	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	103					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tgcaatctttctaaaaattca	0.547000													16	148					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35523587	35523587	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:35523587G>A	ENST00000262631.5	+	2	333	c.196G>A	c.(196-198)Gag>Aag	p.E66K	SCN1B_ENST00000595652.1_Missense_Mutation_p.E66K|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000415950.3_Missense_Mutation_p.E66K	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	66	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGCACTGAGGAGTTTGTCAA	0.612000													11	185					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160232745	160232745	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:160232745A>T	ENST00000275275.5	+	11	1004	c.833A>T	c.(832-834)cAa>cTa	p.Q278L	PNLDC1_ENST00000392167.3_Missense_Mutation_p.Q289L	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	278						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGCTACGATCAATTTAAGCAG	0.403000													6	92					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52366183	52366183	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:52366183C>T	ENST00000356297.4	-	10	1245	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G382E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	382	Ig-like C2-type 2.				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)				TAAGTAAAGTCCACTGGACGT	0.498000													11	86					0	0	1	0	0
C9orf114	51490	broad.mit.edu	37	9	131588373	131588373	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:131588373G>C	ENST00000361256.5	-	7	607	c.567C>G	c.(565-567)ttC>ttG	p.F189L		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	189										kidney(2)|large_intestine(4)|ovary(1)	7						TGCCCTCTCGGAACTCGGATT	0.612000													7	119					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97087580	97087580	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:97087580C>T	ENST00000524981.3	+	12	1698	c.1698C>T	c.(1696-1698)atC>atT	p.I566I				Q6ZTY8	CL063_HUMAN		540										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						AAGCAAGAATCCTCAAGGTAT	0.318000													7	84					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033136	20033136	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:20033136C>T	ENST00000377340.2	-	2	365	c.334G>A	c.(334-336)Gcg>Acg	p.A112T	CRNKL1_ENST00000377327.4_Missense_Mutation_p.A100T	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	112					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGACCTCTCGCTTGAGCCGTG	0.602000													8	79					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24757589	24757589	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:24757589A>G	ENST00000379068.3	+	20	2181	c.2138A>G	c.(2137-2139)cAt>cGt	p.H713R	POLA1_ENST00000379059.3_Missense_Mutation_p.H707R			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	707					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	AAAAGCTACCATCTGTCTGAA	0.383000													9	57					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17075092	17075092	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:17075092C>T	ENST00000395811.5	+	16	2313	c.2224C>T	c.(2224-2226)Ctc>Ttc	p.L742F	MPRIP_ENST00000444976.1_Missense_Mutation_p.L704F|MPRIP_ENST00000341712.4_Missense_Mutation_p.L742F|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Missense_Mutation_p.L742F	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	742	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATTGAAGATCTCCAGAGGCA	0.542000													8	130					0	0	1	0	0
NEURL1	9148	broad.mit.edu	37	10	105330722	105330722	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:105330722C>T	ENST00000369780.4	+	2	588	c.179C>T	c.(178-180)gCc>gTc	p.A60V	NEURL_ENST00000369777.2_Missense_Mutation_p.A43V	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		60					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGGCTCCCAGCCACGCCGCTG	0.642000													10	238					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457903	6457903	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:6457903G>A	ENST00000358945.3	-	12	2125	c.1685C>T	c.(1684-1686)cCc>cTc	p.P562L	SCNN1A_ENST00000543768.1_Missense_Mutation_p.P563L|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000540037.1_Missense_Mutation_p.P240L|SCNN1A_ENST00000228916.2_Missense_Mutation_p.P540L|SCNN1A_ENST00000360168.3_Missense_Mutation_p.P599L			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	540			S -> L (in AR-PHA1).		excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGTGACAGAGGGAGACTCAGA	0.522000													9	121					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863090	55863090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:55863090G>A	ENST00000327335.4	-	1	832	c.833C>T	c.(832-834)tCa>tTa	p.S278L	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CGGGGCAACTGAAGTATTGAG	0.368000													10	120					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936019	30936019	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:30936019C>T	ENST00000355537.3	+	2	1697	c.1550C>T	c.(1549-1551)cCc>cTc	p.P517L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	517					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)					GAGATGGACCCCGTGAACAGC	0.617000													7	123					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899178	112899178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:112899178G>A	ENST00000374530.3	+	8	1534	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	AKAP2_ENST00000259318.7_Missense_Mutation_p.E221K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E452K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E310K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E310K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E452K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E452K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		221							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCTGGAAAAGGAGAGGAGAGA	0.512000													8	94					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56085945	56085945	+	Silent	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56085945T>C	ENST00000312711.1	+	1	163	c.163T>C	c.(163-165)Ttg>Ctg	p.L55L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GGACTCCAGGTTGCAAACCCC	0.423000													9	219					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30890007	30890007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:30890007C>T	ENST00000321897.5	+	19	2553	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S	VARS2_ENST00000541562.1_Missense_Mutation_p.P671S|VARS2_ENST00000416670.2_Missense_Mutation_p.P641S|VARS2_ENST00000542001.1_Missense_Mutation_p.P501S|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	641					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGGGCAGCTGCCCTTCAGCAA	0.572000													12	139					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234878916	234878916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:234878916C>T	ENST00000324695.4	+	17	2241	c.2201C>T	c.(2200-2202)cCc>cTc	p.P734L	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	734						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTCACCTCCCCCTTCGTGGTC	0.542000													16	344					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618191	111618191	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:111618191G>A	ENST00000374667.3	-	1	1048	c.20C>T	c.(19-21)cCc>cTc	p.P7L		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	7						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGGGCATGGGGCTGTTCCT	0.667000													7	103					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900112	112900112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:112900112C>T	ENST00000374530.3	+	8	2468	c.2288C>T	c.(2287-2289)cCc>cTc	p.P763L	AKAP2_ENST00000259318.7_Missense_Mutation_p.P532L|AKAP2_ENST00000510514.5_Missense_Mutation_p.P763L|AKAP2_ENST00000434623.2_Missense_Mutation_p.P621L|AKAP2_ENST00000374525.1_Missense_Mutation_p.P621L|AKAP2_ENST00000555236.1_Missense_Mutation_p.P763L|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P763L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		532							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ACTGACAACCCCTCAGAGGGC	0.532000													10	172					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103180643	103180643	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:103180643C>T	ENST00000424685.2	-	44	7090		c.e44+1		RELN_ENST00000428762.1_Splice_Site|RELN_ENST00000343529.5_Splice_Site			P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGGGACTGACCTGATCGATA	0.493000													6	96					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183510184	183510184	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:183510184T>A	ENST00000367537.3	+	14	1643	c.1448T>A	c.(1447-1449)aTa>aAa	p.I483K	SMG7_ENST00000456731.2_Missense_Mutation_p.I412K|SMG7_ENST00000508461.1_Missense_Mutation_p.I412K|SMG7_ENST00000507469.1_Missense_Mutation_p.I454K|SMG7_ENST00000515829.2_Missense_Mutation_p.I454K|SMG7_ENST00000347615.2_Missense_Mutation_p.I454K			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	454					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CAACGACGAATACGACAGCAA	0.413000													9	204					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	437596	437596	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:437596G>A	ENST00000338977.5	-	2	672	c.624C>T	c.(622-624)ccC>ccT	p.P208P	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.P220P|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TACATTTGTAGGGTTTATCTC	0.378000													5	73					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74526035	74526035	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:74526035G>A	ENST00000355780.5	-	8	957	c.739C>T	c.(739-741)Cct>Tct	p.P247S	STAU2_ENST00000521727.1_Missense_Mutation_p.P259S|STAU2_ENST00000523558.1_Missense_Mutation_p.P107S|STAU2_ENST00000522695.1_Missense_Mutation_p.P247S|STAU2_ENST00000519961.1_Missense_Mutation_p.P279S|STAU2_ENST00000521210.1_Missense_Mutation_p.P175S|STAU2_ENST00000521451.1_Missense_Mutation_p.P59S|STAU2_ENST00000522509.1_Missense_Mutation_p.P247S|STAU2_ENST00000524300.1_Missense_Mutation_p.P279S|STAU2_ENST00000517542.1_Missense_Mutation_p.P241S	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	279	DRBM 3.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCCACCACAGGAAGAGGTGGA	0.378000													8	75					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4259832	4259832	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:4259832C>T	ENST00000404826.2	+	39	5770	c.5631C>T	c.(5629-5631)ttC>ttT	p.F1877F	SDK1_ENST00000389531.3_Silent_p.F1857F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1877	Fibronectin type-III 12.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTATTTCTTCCGTGTCCAAG	0.622000													11	154					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152813321	152813321	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:152813321G>A	ENST00000370186.1	+	7	1271	c.945G>A	c.(943-945)atG>atA	p.M315I	ATP2B3_ENST00000359149.3_Missense_Mutation_p.M329I|ATP2B3_ENST00000349466.2_Missense_Mutation_p.M329I|ATP2B3_ENST00000263519.4_Missense_Mutation_p.M329I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.M315I|ATP2B3_ENST00000393842.1_Missense_Mutation_p.M315I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	329					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGGCCATGGAGATGCAGC	0.582000													5	44					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977075	107977075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:107977075C>T	ENST00000372129.2	-	1	2576	c.2500G>A	c.(2500-2502)Gga>Aga	p.G834R		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	834						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.G834R(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGGAACTTTCCAGGTAACATT	0.488000													19	206					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53561067	53561067	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:53561067A>C	ENST00000342160.3	-	82	13380	c.12923T>G	c.(12922-12924)cTg>cGg	p.L4308R	HUWE1_ENST00000262854.6_Missense_Mutation_p.L4308R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4308	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAAGCCTTGCAGGGGTACCTT	0.522000													6	44					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031022	79031022	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:79031022C>T	ENST00000446378.2	+	2	6465	c.6434C>T	c.(6433-6435)tCc>tTc	p.S2145F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2145						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGCCTCAATCCCCAGAGTCA	0.448000													6	111					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90035653	90035653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:90035653C>T	ENST00000317005.2	+	1	1686	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	510					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAGGAGGCTTCGGACCATAAT	0.343000													10	131					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139100648	139100648	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:139100648G>A	ENST00000358701.5	-	12	2060	c.2023C>T	c.(2023-2025)Ctc>Ttc	p.L675F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	675					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ATCACCATGAGGAACAGGGAT	0.637000													10	155					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164952	139164952	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:139164952C>T	ENST00000395297.1	-	13	1936	c.1766G>A	c.(1765-1767)aGg>aAg	p.R589K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	589										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGCCCAGTCCTGTCTAATCC	0.448000										HNSCC(54;0.14)			17	199					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134952909	134952909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:134952909C>T	ENST00000292035.5	-	2	331	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	MED27_ENST00000372184.3_Missense_Mutation_p.G90R|MED27_ENST00000474263.1_5'UTR|MED27_ENST00000357028.2_Missense_Mutation_p.G52R|RP11-32B11.2_ENST00000444872.2_RNA	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	90					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CTTAACAGCCCACTGTTATGA	0.443000													23	165					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9080472	9080472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:9080472C>T	ENST00000397910.4	-	2	9762	c.9559G>A	c.(9559-9561)Gag>Aag	p.E3187K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3188	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						CTCCCCGTCTCCTCTGCTGGG	0.473000													5	110					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266781	107266781	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:107266781C>T	ENST00000334726.2	+	1	327	c.238C>T	c.(238-240)Cca>Tca	p.P80S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCCCTCTCTCCAATGCTGGC	0.507000													10	161					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749370	79749370	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:79749370C>T	ENST00000305428.3	+	2	956	c.881C>T	c.(880-882)cCc>cTc	p.P294L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	294						integral to membrane		p.P294L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGAAAGGAACCCCACAAGCCA	0.502000													9	173					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541555	55541555	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:55541555G>A	ENST00000220676.1	+	4	5261	c.5113G>A	c.(5113-5115)Gat>Aat	p.D1705N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1705					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)			AGATAAGTGTGATGTTAGTGC	0.408000													25	173					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66276599	66276599	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:66276599C>T	ENST00000532677.1	+	18	2549	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000453114.1_Silent_p.I697I|DPP3_ENST00000541961.1_Silent_p.I697I|DPP3_ENST00000360510.2_Silent_p.I697I|DPP3_ENST00000531863.1_Silent_p.I717I|DPP3_ENST00000530165.1_Silent_p.I667I	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	697					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGCCTCATCCGATCCTTCT	0.582000													9	93					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169127106	169127106	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:169127106G>A	ENST00000256935.8	+	13	1301	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	407					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACCGTGGTGGCCAGGAAGC	0.552000													10	227					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6655466	6655466	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:6655466G>A	ENST00000299441.3	-	3	2280	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	623	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGATCCGGAGGACCCAAGTC	0.612000													5	117					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847229	47847229	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:47847229G>A	ENST00000339488.4	-	3	1384	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	451						integral to membrane	hedgehog receptor activity										TAATGTTCACGGAGGAAGTGC	0.448000													5	93					0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66793304	66793304	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:66793304G>A	ENST00000307961.6	-	7	908	c.816C>T	c.(814-816)tcC>tcT	p.S272S	RPL4_ENST00000568588.1_Silent_p.S178S	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	272					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TACTCTTGAGGGAAGCGGCTT	0.398000													7	98					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863408	23863408	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:23863408C>T	ENST00000405093.3	-	21	2624	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	MYH6_ENST00000356287.3_Missense_Mutation_p.A852T	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	852					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCATGGTGGCCATCTCCTTC	0.572000													6	80					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33137856	33137856	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:33137856C>T	ENST00000341947.2	-	49	3831	c.3604G>A	c.(3604-3606)Ggt>Agt	p.G1202S	COL11A2_ENST00000361917.1_Missense_Mutation_p.G1095S|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1155S|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1176S|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1181S|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1142S|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1121S|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1116S|COL11A2_ENST00000477772.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1202	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TTCCCAACACCTCCTGGGGGA	0.562000													6	105					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48512910	48512910	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:48512910G>A	ENST00000358350.4	-	58	8841	c.8237C>T	c.(8236-8238)tCc>tTc	p.S2746F	FRYL_ENST00000264319.7_Missense_Mutation_p.S142F|FRYL_ENST00000537810.1_Missense_Mutation_p.S2746F|FRYL_ENST00000507873.2_Missense_Mutation_p.S142F|FRYL_ENST00000503238.1_Missense_Mutation_p.S2746F	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2746					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CACTTCCAAGGAACTTTTAAA	0.373000													18	163					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108218300	108218300	+	Splice_Site	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:108218300A>G	ENST00000273353.3	-	6	641		c.e6+1			NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCAAACACTTACGTGAAGAGT	0.313000													4	54					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47942079	47942079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:47942079G>A	ENST00000289672.2	-	13	2011	c.1961C>T	c.(1960-1962)gCc>gTc	p.A654V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	654	PKD 2.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATTATTGAAGGCAAGGACCTC	0.488000													4	69					0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102195384	102195384	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:102195384G>A	ENST00000263464.3	+	2	2894	c.144G>A	c.(142-144)agG>agA	p.R48R	BIRC3_ENST00000532808.1_Silent_p.R48R	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	48					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TCTCAGAAAGGAGTCTTGCTC	0.458000			T	MALT1	MALT								7	147					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915888	46915888	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:46915888C>T	ENST00000307522.3	-	1	953	c.180G>A	c.(178-180)gaG>gaA	p.E60E		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	60						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gggtgctcttctccatgatgc	0.657000													6	90					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83847819	83847819	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:83847819G>A	ENST00000349129.2	+	21	4318	c.4058G>A	c.(4057-4059)gGa>gAa	p.G1353E	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1334E|DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1344E	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1353					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGTTCTCCAGGATCTCGAAAA	0.418000													17	183					0	0	1	0	0
ZNF506	440515	broad.mit.edu	37	19	19917754	19917754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:19917754G>A	ENST00000443905.2	-	2	274	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	ZNF506_ENST00000540806.2_Missense_Mutation_p.L43F|ZNF506_ENST00000587461.1_Missense_Mutation_p.L43F|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587452.1_Missense_Mutation_p.L43F|ZNF506_ENST00000545006.1_Missense_Mutation_p.L43F|ZNF506_ENST00000450683.2_Missense_Mutation_p.L43F			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TCCTCACCAAGGAAGATCAGG	0.363000													8	156					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7863183	7863183	+	Missense_Mutation	SNP	C	C	T	rs145870917		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:7863183C>T	ENST00000377532.3	+	8	1173	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	PER3_ENST00000377541.1_Missense_Mutation_p.R316C|PER3_ENST00000361923.2_Missense_Mutation_p.R316C			P56645	PER3_HUMAN	period circadian clock 3	316	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGAAGATCGTTCTCTGAT	0.428000													5	116					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746811	158746811	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	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													6	64					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120848	94120848	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:94120848A>T	ENST00000369303.4	-	3	387	c.203T>A	c.(202-204)aTa>aAa	p.I68K	EPHA7_ENST00000369297.1_Missense_Mutation_p.I68K	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	68						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTATGTTCGTATCGGGGTATA	0.393000													12	149					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2132475	2132475	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:2132475G>A	ENST00000219476.3	+	32	4483	c.3853G>A	c.(3853-3855)Gga>Aga	p.G1285R	TSC2_ENST00000568454.1_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000350773.4_Intron|TSC2_ENST00000353929.4_Missense_Mutation_p.G1242R|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000439673.2_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1285					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGCTGCCAAGGACAGCTGCA	0.632000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				8	187					0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061487	11061487	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:11061487G>A	ENST00000390677.2	-	1	674	c.411C>T	c.(409-411)acC>acT	p.T137T	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	137					sensory perception of taste	integral to membrane	taste receptor activity	p.T137T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGAAGACCAAGGTTCCTAGCA	0.353000													6	113					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61508292	61508292	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:61508292A>G	ENST00000398571.2	-	38	5160	c.5084T>C	c.(5083-5085)tTt>tCt	p.F1695S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1695					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAATAGCAGAAAAGAACGATT	0.398000													4	37					0	0	1	0	0
TEX29	121793	broad.mit.edu	37	13	111992217	111992217	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:111992217C>T	ENST00000283547.1	+	4	306	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	59						integral to membrane											CAGTTTACATCCACGTGTTCT	0.488000													5	125					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083683	9083683	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:9083683C>T	ENST00000397910.4	-	1	8335	c.8132G>A	c.(8131-8133)gGa>gAa	p.G2711E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2711	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						GATAGTGATTCCAGGGATGCT	0.478000													8	136					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868626	97868626	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:97868626C>T	ENST00000437310.1	+	1	457	c.397C>T	c.(397-399)Cca>Tca	p.P133S		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTTACTTTATCCAGCCATTAT	0.393000													18	289					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38270416	38270416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:38270416C>T	ENST00000412331.2	+	9	1373	c.791C>T	c.(790-792)tCc>tTc	p.S264F	EIF3L_ENST00000406934.1_Missense_Mutation_p.S166F|EIF3L_ENST00000381683.6_Missense_Mutation_p.S216F	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	264						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGCGGCACTCCCTCTACAAA	0.552000													12	175					0	0	1	0	0
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	RNA	SNP	T	T	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468000													4	14					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96124062	96124062	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:96124062C>T	ENST00000453304.1	-	12	2304	c.1956G>A	c.(1954-1956)ctG>ctA	p.L652L		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	652					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCTCTGCATCCAGCTGAATGT	0.602000													13	99					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122828544	122828544	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:122828544A>T	ENST00000264811.5	-	6	2170	c.1752T>A	c.(1750-1752)ttT>ttA	p.F584L	TRPC3_ENST00000379645.3_Missense_Mutation_p.F657L|TRPC3_ENST00000513531.1_Missense_Mutation_p.F529L	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	572					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACACCATAATAAAGAGGACCA	0.408000													23	236					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143017801	143017801	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:143017801G>A	ENST00000343257.2	+	3	433	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	116					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AAAATTAGGGGAAGACGGGAT	0.468000													6	121					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73414295	73414295	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:73414295C>T	ENST00000286657.4	-	3	440	c.404G>A	c.(403-405)aGa>aAa	p.R135K	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	135					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTCCGGATTCTATACGTAGC	0.498000													18	195					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338532	186338532	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:186338532G>A	ENST00000411641.2	+	7	1136	c.917G>A	c.(916-918)gGa>gAa	p.G306E	AHSG_ENST00000273784.5_Missense_Mutation_p.G307E			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	306					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCTCCTCCAGGACACCAGTTG	0.632000													19	238					0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102195383	102195383	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:102195383G>A	ENST00000263464.3	+	2	2893	c.143G>A	c.(142-144)aGg>aAg	p.R48K	BIRC3_ENST00000532808.1_Missense_Mutation_p.R48K	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	48					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GTCTCAGAAAGGAGTCTTGCT	0.453000			T	MALT1	MALT								6	147					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275338	29275338	+	Missense_Mutation	SNP	G	G	A	rs147619517		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:29275338G>A	ENST00000377160.2	+	1	936	c.872G>A	c.(871-873)cGg>cAg	p.R291Q		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TATAGCTTACGGAATGATTCC	0.428000													7	154					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147796051	147796051	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:147796051C>T	ENST00000513335.1	-	8	893	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TTC29_ENST00000398886.4_Missense_Mutation_p.E232K|TTC29_ENST00000325106.4_Missense_Mutation_p.E206K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	206							binding	p.E206K(2)		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)					TGGAATGCTTCATAATGCTCA	0.448000													3	27					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80744798	80744798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:80744798G>A	ENST00000509894.1	+	15	2537	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	TTK_ENST00000230510.3_Missense_Mutation_p.E570K|TTK_ENST00000369798.2_Missense_Mutation_p.E571K			P33981	TTK_HUMAN	TTK protein kinase	571	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E555K(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTACCGGAACGAAATAGCTTA	0.284000													9	150					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607875	68607875	+	Silent	SNP	G	G	A	rs148878592		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:68607875G>A	ENST00000234313.7	+	3	398	c.219G>A	c.(217-219)acG>acA	p.T73T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	73	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGATCACTACGACCAAACAGC	0.488000													11	163					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39311416	39311416	+	Missense_Mutation	SNP	C	C	T	rs147710831		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:39311416C>T	ENST00000263408.4	-	7	1029	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	312	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGCACAACATCGCGATTTCTC	0.368000													8	159					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37264407	37264407	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:37264407G>A	ENST00000315392.4	-	5	772	c.561C>T	c.(559-561)tcC>tcT	p.S187S	PLXDC1_ENST00000394316.2_Silent_p.S187S|PLXDC1_ENST00000444911.2_Silent_p.S147S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Silent_p.S114S	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	187					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGAGTTGTCGGAGTAGCCAG	0.522000													12	180					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038709	75038709	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:75038709C>T	ENST00000326665.5	-	14	2903	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	895	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AACCCTGTTCCCCTTCAGAAG	0.512000													15	304					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129156917	129156917	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:129156917C>T	ENST00000540052.1	+	5	3697	c.3653C>T	c.(3652-3654)cCt>cTt	p.P1218L	BCORL1_ENST00000303743.5_Missense_Mutation_p.P1218L|BCORL1_ENST00000218147.7_Missense_Mutation_p.P1218L|BCORL1_ENST00000359304.2_Missense_Mutation_p.P1218L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1218					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GACTTTATTCCTGTGGTTCTG	0.473000													7	76					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228584723	228584723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:228584723G>A	ENST00000493030.2	-	4	4118	c.409C>T	c.(409-411)Cca>Tca	p.P137S	TRIM11_ENST00000284551.6_Missense_Mutation_p.P262S|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000366699.3_Missense_Mutation_p.P262S			Q96F44	TRI11_HUMAN	tripartite motif containing 11	262					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				ACAACTTCTGGGGGCTGCAGC	0.652000													8	75					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35818660	35818660	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:35818660C>T	ENST00000394395.2	+	9	812	c.639C>T	c.(637-639)tcC>tcT	p.S213S	TADA2A_ENST00000417170.1_Silent_p.S213S|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Silent_p.S213S|TADA2A_ENST00000225396.6_Silent_p.S213S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	213					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TCTATCATTCCAGGTTAAAGG	0.303000													4	67					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119665181	119665181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:119665181G>A	ENST00000379735.5	-	15	2231	c.1960C>T	c.(1960-1962)Ctc>Ttc	p.L654F	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.L653F|SEC24D_ENST00000429811.2_Missense_Mutation_p.L209F|SEC24D_ENST00000511481.1_Missense_Mutation_p.L284F|SEC24D_ENST00000419654.2_Missense_Mutation_p.L209F	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	653					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCTCCAGTGAGCTGAGGAACC	0.478000													5	57					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374287	31374287	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:31374287C>T	ENST00000268296.4	+	13	1512	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	ITGAX_ENST00000562522.1_Missense_Mutation_p.S464F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	464					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCCCTCTGCTCCGTGGACGTA	0.667000													12	157					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25221514	25221514	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:25221514G>A	ENST00000444203.2	+	4	1269	c.230G>A	c.(229-231)cGt>cAt	p.R77H	SNRPN_ENST00000346403.6_Missense_Mutation_p.R73H|SNRPN_ENST00000400100.1_Missense_Mutation_p.R73H|SNRPN_ENST00000400098.1_Missense_Mutation_p.R73H|SNRPN_ENST00000577565.1_Missense_Mutation_p.R73H|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.R77H|SNRPN_ENST00000390687.4_Missense_Mutation_p.R73H|SNRPN_ENST00000400097.1_Missense_Mutation_p.R73H			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	73					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GTGTTGCTGCGTGGGGAGAAC	0.448000									Prader-Willi syndrome				6	59					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014611	114014611	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:114014611C>T	ENST00000481065.1	+	3	3097	c.482C>T	c.(481-483)aCc>aTc	p.T161I	TIGIT_ENST00000486257.1_Missense_Mutation_p.T94I|TIGIT_ENST00000383671.3_Missense_Mutation_p.T94I			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	94					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CTGGGCCTCACCCTCCAGTCG	0.577000													5	101					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171544572	171544572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:171544572G>A	ENST00000176763.5	-	4	776	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	145	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGAAGTTGAGGGCTTCTAGC	0.567000													7	98					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35061622	35061622	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:35061622C>T	ENST00000358901.6	-	10	2041	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	382					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGGTATGGATCTGAAGAATCT	0.483000													28	168					0	0	1	0	0
MRPL22	29093	broad.mit.edu	37	5	154320689	154320689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:154320689G>A	ENST00000523037.1	+	1	60	c.19G>A	c.(19-21)Gga>Aga	p.G7R	MRPL22_ENST00000439747.3_Missense_Mutation_p.G7R|MRPL22_ENST00000522038.1_Missense_Mutation_p.G7R|MRPL22_ENST00000265229.8_5'UTR	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	7					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCAGTACTGGGACAGTTGGG	0.542000													8	177					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104030071	104030071	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:104030071G>A	ENST00000265148.3	-	48	7989	c.7900C>T	c.(7900-7902)Cct>Tct	p.P2634S	CENPE_ENST00000380026.3_Missense_Mutation_p.P2513S	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2634	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTGGCACAGGATCTTGTAAA	0.378000													22	173					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970658	101970658	+	Silent	SNP	G	G	A	rs146614457	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:101970658G>A	ENST00000543253.1	+	5	1780	c.861G>A	c.(859-861)gaG>gaA	p.E287E	GPRASP2_ENST00000332262.5_Silent_p.E287E|GPRASP2_ENST00000535209.1_Silent_p.E287E	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTGAGGATGAGGCCAGCAACC	0.517000													14	134					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238303583	238303583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:238303583C>T	ENST00000295550.4	-	3	808	c.356G>A	c.(355-357)gGa>gAa	p.G119E	COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.G119E|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.G119E|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	119	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TAATCCTTTTCCAGTCTGATT	0.448000													6	131					0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20943406	20943406	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:20943406C>G	ENST00000361505.5	+	5	793	c.647C>G	c.(646-648)gCt>gGt	p.A216G	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	216					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	GGAGCAGACGCTGTTGGTGAG	0.537000													6	41					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18213472	18213472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:18213472C>T	ENST00000380033.4	-	7	1256	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	375										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACTCGTATTTCCCGATAAAGC	0.403000													8	72					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48320450	48320450	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:48320450G>A	ENST00000376876.3	-	10	1557	c.714C>T	c.(712-714)ctC>ctT	p.L238L	SLC38A5_ENST00000317669.5_Silent_p.L238L|SLC38A5_ENST00000376875.1_Silent_p.L187L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	238					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CTTGGCTGGGGAGTCCCACGA	0.542000													4	26					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38350680	38350680	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:38350680G>A	ENST00000322350.5	+	4	715	c.369G>A	c.(367-369)ggG>ggA	p.G123G	EGFLAM_ENST00000354891.3_Silent_p.G123G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	123	Fibronectin type-III 1.					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)					CTGGCAAAGGGCGGCTGAGCT	0.478000													10	86					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020966	72020966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:72020966G>A	ENST00000355327.3	+	9	1570	c.1436G>A	c.(1435-1437)gGg>gAg	p.G479E	THSD4_ENST00000357769.4_Missense_Mutation_p.G119E|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.G479E			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	479						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGGGCGGAGGGACCATGTTC	0.512000													10	209					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32477867	32477867	+	Silent	SNP	G	G	A	rs145808292	by1000genomes	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:32477867G>A	ENST00000266088.4	+	6	742	c.492G>A	c.(490-492)tcG>tcA	p.S164S	SLC5A1_ENST00000543737.1_Silent_p.S37S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	164					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ACATCTTCTCGGGGGCCATAT	0.498000													9	197					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155242276	155242276	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:155242276T>C	ENST00000357232.3	-	14	2909	c.2910A>G	c.(2908-2910)atA>atG	p.I970M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	970	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGATGACTTTATCAAGCTCA	0.348000													6	117					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806863	6806863	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:6806863G>A	ENST00000307401.4	+	1	616	c.595G>A	c.(595-597)Gta>Ata	p.V199I		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGCTCATGGTATATGTGAT	0.493000													4	74					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72889506	72889506	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:72889506C>T	ENST00000264839.7	+	5	700	c.700C>T	c.(700-702)Cct>Tct	p.P234S	RIMS1_ENST00000522291.1_Missense_Mutation_p.P234S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P234S|RIMS1_ENST00000517960.1_Missense_Mutation_p.P234S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P234S|RIMS1_ENST00000518273.1_Missense_Mutation_p.P234S|RIMS1_ENST00000521978.1_Missense_Mutation_p.P234S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P234S			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	234					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGATGCTGCTCCTCCCAGCGC	0.592000													6	103					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88899482	88899482	+	Silent	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:88899482A>G	ENST00000556553.1	+	10	1549	c.990A>G	c.(988-990)gaA>gaG	p.E330E	SPATA7_ENST00000356583.5_Silent_p.E330E|SPATA7_ENST00000393545.4_Silent_p.E362E|SPATA7_ENST00000045347.7_Silent_p.E362E			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	362					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TTTACAGTGAAGAAGAACTGT	0.269000													7	102					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196697552	196697552	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:196697552C>T	ENST00000367429.4	+	15	2553	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	771	Sushi 13.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAAGGAATTCGATCATAATT	0.299000													4	58					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802483	140802483	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:140802483C>T	ENST00000398587.2	+	1	1722	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Silent_p.I563I|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCGAGATCCTGTACCCTG	0.647000													16	274					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42452043	42452043	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:42452043G>A	ENST00000262407.5	-	28	2958	c.2927C>T	c.(2926-2928)cCc>cTc	p.P976L	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	976					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TTCCCCTCGGGGCAGGCTGAG	0.637000													4	74					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62496584	62496584	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:62496584C>T	ENST00000541428.1	-	15	1054	c.894G>A	c.(892-894)aaG>aaA	p.K298K	ASPH_ENST00000379454.4_Silent_p.K327K|ASPH_ENST00000523897.1_5'UTR	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	327	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GCTTCTTTTTCTTAACTGAAA	0.284000													10	59					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315733	125315733	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:125315733C>T	ENST00000373688.2	+	1	343	c.285C>T	c.(283-285)atC>atT	p.I95I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTGCCTCCATCCCCAAAATGC	0.478000													15	229					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652102	121652102	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:121652102C>T	ENST00000393386.2	+	12	3413	c.3002C>T	c.(3001-3003)tCt>tTt	p.S1001F	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1001					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGAGCCTCTTCTGATAGTGAA	0.423000													8	182					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9559565	9559565	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr18:9559565G>A	ENST00000400556.3	-	14	1953	c.1880C>T	c.(1879-1881)tCt>tTt	p.S627F	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S610F	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	627					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GTCAGTCATAGATAAATACTG	0.458000													10	148					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101822189	101822189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:101822189C>T	ENST00000375001.3	+	36	3779	c.3356C>T	c.(3355-3357)cCc>cTc	p.P1119L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1119	Triple-helical region 9 (COL9).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTTCCAGGTCCCCCTGGCCCT	0.473000													10	124					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588684	20588684	+	RNA	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:20588684C>T	ENST00000428453.1	-	0	4066																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTTCTTCTCCAAAAACAACA	0.313000													4	81					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26610676	26610676	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:26610676C>T	ENST00000314675.7	-	8	753	c.674G>A	c.(673-675)gGc>gAc	p.G225D	UBXN11_ENST00000374221.3_Missense_Mutation_p.G345D|UBXN11_ENST00000357089.4_Missense_Mutation_p.G312D|UBXN11_ENST00000374217.2_Missense_Mutation_p.G312D|UBXN11_ENST00000374223.1_Missense_Mutation_p.G102D|UBXN11_ENST00000374222.1_Missense_Mutation_p.G345D	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	345						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						AATCACCTCGCCTTGCCGGAT	0.592000													12	185					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66075730	66075730	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:66075730G>A	ENST00000349533.6	+	13	2038	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	LEPR_ENST00000371059.3_Missense_Mutation_p.G618E|LEPR_ENST00000344610.8_Missense_Mutation_p.G618E|LEPR_ENST00000371058.1_Missense_Mutation_p.G618E|LEPR_ENST00000371060.3_Missense_Mutation_p.G618E|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	618	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGGCTAGATGGACTGGGATAT	0.413000													10	199					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124646391	124646391	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:124646391G>A	ENST00000311075.3	-	2	537	c.499C>T	c.(499-501)Cta>Tta	p.L167L		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	167	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTGCTGTTTAGGGTGCTGGTC	0.498000													16	147					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704077	56704077	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:56704077C>T	ENST00000586855.2	-	2	658	c.345G>A	c.(343-345)ctG>ctA	p.L115L	ZSCAN5B_ENST00000358992.3_Silent_p.L115L			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	115	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCAGGTCCTCCAGGTCTTTGC	0.542000													4	69					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391980	139391980	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:139391980C>T	ENST00000277541.6	-	34	6286	c.6211G>A	c.(6211-6213)Gag>Aag	p.E2071K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2071					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TAGCTGCCCTCCCGGGCGGCC	0.692000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	38					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7612474	7612474	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:7612474C>T	ENST00000340080.4	+	4	789	c.368C>T	c.(367-369)cCa>cTa	p.P123L	MIOS_ENST00000405785.1_Missense_Mutation_p.P123L	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	123										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCTGGAATCCACTGGATAGT	0.393000													12	221					0	0	1	0	0
ETNK2	55224	broad.mit.edu	37	1	204106278	204106278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:204106278G>A	ENST00000367199.2	-	5	1171	c.761C>T	c.(760-762)cCc>cTc	p.P254L	ETNK2_ENST00000367198.2_Missense_Mutation_p.P145L|ETNK2_ENST00000367197.1_Missense_Mutation_p.P5L|ETNK2_ENST00000367202.4_Missense_Mutation_p.P323L|ETNK2_ENST00000367201.3_Missense_Mutation_p.P323L			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	323							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CACCTCCCTGGGGGTCACGGC	0.592000													7	155					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147009	26147009	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:26147009C>T	ENST00000331351.5	+	2	1203	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	271					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAATGAGGCTCCCAAGCGCAT	0.488000													8	145					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53056775	53056775	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:53056775C>T	ENST00000359798.4	+	5	786	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGCCCCAAATCCATATTTCTA	0.368000													18	276					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872055	108872055	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:108872055G>A	ENST00000329106.2	+	4	427	c.427G>A	c.(427-429)Gat>Aat	p.D143N	SULT1C3_ENST00000376700.1_Missense_Mutation_p.D143N	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	143						cytoplasm	alcohol sulfotransferase activity	p.D143N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAATCCCAAGGATTGCCTGGT	0.428000													8	135					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697005	169697005	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:169697005A>T	ENST00000333360.7	-	9	1482	c.1343T>A	c.(1342-1344)aTt>aAt	p.I448N	SELE_ENST00000367781.4_Missense_Mutation_p.I385N|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.I323N|SELE_ENST00000367777.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.I323N|SELE_ENST00000367782.4_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.I385N	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	448	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GAATTCTCCAATAGGGGAATG	0.493000													12	150					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539670	27539670	+	RNA	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:27539670A>T	ENST00000574842.1	+	0	939																											TTTAACTGTAATGTTGGGCAA	0.468000													16	293					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525564	248525564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:248525564G>A	ENST00000366475.1	+	1	682	c.682G>A	c.(682-684)Gag>Aag	p.E228K		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E228K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CTCACTCTATGAGATTTTCAT	0.478000													9	230					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53664573	53664573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:53664573G>A	ENST00000257934.4	+	5	1451	c.1360G>A	c.(1360-1362)Ggg>Agg	p.G454R	ESPL1_ENST00000552462.1_Missense_Mutation_p.G454R	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	454					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGACCACATGGGGATGACCGG	0.567000													5	88					0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638355	46638355	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:46638355T>A	ENST00000303383.3	-	6	974	c.708A>T	c.(706-708)gaA>gaT	p.E236D		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	236										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GAACTCGGTCTTCAAGAATGT	0.383000													10	137					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637133	39637133	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:39637133G>A	ENST00000246639.2	-	1	259	c.127C>T	c.(127-129)Cct>Tct	p.P43S	KRT35_ENST00000393989.1_Missense_Mutation_p.P73S			Q92764	KRT35_HUMAN	keratin 35	73	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCTCCAGCAGGGAGGCAGAGA	0.612000													4	62					0	0	1	0	0
SPRY2	10253	broad.mit.edu	37	13	80911637	80911637	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:80911637C>T	ENST00000377102.1	-	2	1181	c.204G>A	c.(202-204)aaG>aaA	p.K68K	SPRY2_ENST00000540649.1_Silent_p.K68K|SPRY2_ENST00000377104.3_Silent_p.K68K			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	68					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GAGGAGCAGGCTTGAGCCCAG	0.587000													8	111					0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136736889	136736889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:136736889C>A	ENST00000264161.4	-	3	387	c.172G>T	c.(172-174)Gaa>Taa	p.E58*	DARS_ENST00000537273.1_5'UTR|DARS_ENST00000463008.1_5'UTR	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	58					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CAAACAACTTCATCAGCTTTT	0.333000													10	168					5.16669e-11	5.29879e-11	1	1	0
IL7R	3575	broad.mit.edu	37	5	35876365	35876365	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:35876365G>A	ENST00000303115.3	+	8	1286	c.1157G>A	c.(1156-1158)aGg>aAg	p.R386K	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	386				R -> G (in Ref. 7; AAH67539).	immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCCTCTTCCAGGTCCCTAGAC	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						12	80					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142416889	142416889	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:142416889C>T	ENST00000337777.3	+	12	1564	c.1351C>T	c.(1351-1353)Ctt>Ttt	p.L451F	PLS1_ENST00000457734.2_Missense_Mutation_p.L451F|PLS1_ENST00000497002.1_Missense_Mutation_p.L451F	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	451	Actin-binding 2.|CH 3.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTATCCTGCCCTTGGAGGGAA	0.403000													8	41					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176017686	176017686	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:176017686G>A	ENST00000510636.1	+	28	3811	c.3537G>A	c.(3535-3537)aaG>aaA	p.K1179K	CDHR2_ENST00000261944.5_Silent_p.K1179K|CDHR2_ENST00000506348.1_Silent_p.K1179K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1179					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGTGCGGAAGAGGTGCGGCT	0.587000													7	97					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060432	144060432	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:144060432C>T	ENST00000056217.5	+	2	844	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	224					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTCTTGCATCCCCAGGAGGT	0.567000													10	270					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641939	106641939	+	RNA	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:106641939G>A	ENST00000390605.2	-	0	105																											CCTGGGACTGGGGAGTCCGTT	0.587000													8	67					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26903817	26903817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:26903817C>T	ENST00000231021.4	-	6	1100	c.928G>A	c.(928-930)Gga>Aga	p.G310R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	310	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCACCATCTCCTTCAGCAATG	0.428000													34	268					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10648011	10648011	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:10648011C>T	ENST00000547195.1	-	8	1097	c.597G>A	c.(595-597)aaG>aaA	p.K199K	MRVI1_ENST00000421747.1_Silent_p.K281K|MRVI1_ENST00000527509.2_Silent_p.K199K|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000531107.1_Silent_p.K282K|MRVI1_ENST00000552103.1_Silent_p.K199K|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000436272.1_Silent_p.K263K|MRVI1_ENST00000423302.2_Silent_p.K290K	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	263					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGAAGTTTTCCTTTTGTTCTA	0.532000													4	32					0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60381704	60381704	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:60381704G>A	ENST00000371204.3	-	2	322	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	93					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TTAAGGGCAAGCCAGTAATAA	0.393000													8	155					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33612861	33612861	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:33612861G>A	ENST00000321505.4	+	11	3934	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K	KIAA1549L_ENST00000265654.5_Intron|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1258K					KIAA1549-like																		TGTGACTCAGGAGACAGTGGT	0.532000													6	58					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672641	30672641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:30672641G>A	ENST00000376406.3	-	10	4966	c.4319C>T	c.(4318-4320)tCc>tTc	p.S1440F	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S1176F	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1440	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTCACAGAGGACCTATTTGT	0.597000								Other conserved DNA damage response genes					11	226					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896892	48896892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:48896892G>A	ENST00000394754.1	+	9	3236	c.3122G>A	c.(3121-3123)cGg>cAg	p.R1041Q	GTF2A1L_ENST00000403751.3_Missense_Mutation_p.R337Q|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R1041Q|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R994Q|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R1041Q|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R1041Q|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.R303Q	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		994					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.R1041Q(1)|p.R1041L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTAAGCATTCGGGTTACTGAT	0.308000													9	190					0	0	1	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560169	36560169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:36560169G>A	ENST00000373461.4	+	2	501	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	VSTM2L_ENST00000373458.3_Missense_Mutation_p.R85Q|VSTM2L_ENST00000373459.4_Intron	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	85	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				CGGAGCCACCGGGACTGGACC	0.672000													6	79					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475680	42475680	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:42475680G>A	ENST00000434000.1	-	9	3813	c.3531C>T	c.(3529-3531)tcC>tcT	p.S1177S	GPATCH8_ENST00000591680.1_Silent_p.S1255S			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1255						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCTATCCAGGGACTCCAGGG	0.597000													13	278					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837704	29837704	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:29837704G>A	ENST00000354373.2	+	2	756	c.547G>A	c.(547-549)Gag>Aag	p.E183K	RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	183	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCACTACTGGGAGGTGGACGT	0.562000													7	142					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18967057	18967057	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:18967057A>G	ENST00000262803.5	+	13	2044	c.1772A>G	c.(1771-1773)gAc>gGc	p.D591G	UPF1_ENST00000599848.1_Missense_Mutation_p.D602G	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	602					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCGTCTGCCGACGAGAAGCGG	0.627000													5	64					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258724	56258724	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56258724G>A	ENST00000327216.2	-	1	147	c.123C>T	c.(121-123)aaC>aaT	p.N41N		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TCATGCCAAGGTTCCCTGCCA	0.517000													11	184					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545293	186545293	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:186545293G>A	ENST00000431808.1	-	14	1841	c.1278C>T	c.(1276-1278)taC>taT	p.Y426Y	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Silent_p.Y426Y|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Silent_p.Y526Y|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.Y330Y			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	426						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CCTCCGGGACGTAGGGGGACC	0.587000													10	93					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52561467	52561467	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:52561467G>A	ENST00000395961.3	-	12	1915	c.1749C>T	c.(1747-1749)tcC>tcT	p.S583S	BCAS1_ENST00000434986.2_Silent_p.S249S|BCAS1_ENST00000371440.3_Silent_p.S592S|BCAS1_ENST00000371435.2_Silent_p.S505S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	583			S -> P (in dbSNP:rs1055246).			cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTGTTTACTTGGATTTGCCAA	0.488000													10	212					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124797304	124797304	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:124797304A>G	ENST00000358776.4	+	3	258	c.244A>G	c.(244-246)Acc>Gcc	p.T82A	ACADSB_ENST00000368869.4_Intron|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	82					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TTTGGTTTCAACCATGGATGA	0.303000													10	137					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47170741	47170741	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:47170741C>T	ENST00000447411.1	-	12	1326	c.1120G>A	c.(1120-1122)Ggg>Agg	p.G374R	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G374R	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	374					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ACAAGCATCCCCGTGATGGAA	0.403000													9	137					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36369999	36369999	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:36369999C>T	ENST00000221891.4	+	16	1929	c.1737C>T	c.(1735-1737)tcC>tcT	p.S579S	APLP1_ENST00000537454.2_Silent_p.S539S|APLP1_ENST00000586861.1_Silent_p.S572S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	578					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGGGGTGTCCCGTGAGGCTG	0.642000													7	64					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77286940	77286940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:77286940G>A	ENST00000341514.6	+	16	3309	c.3154G>A	c.(3154-3156)Gga>Aga	p.G1052R	ATP7A_ENST00000343533.5_Missense_Mutation_p.G974R|ATP7A_ENST00000350425.4_Missense_Mutation_p.G55R	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1052					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CATTACTCACGGAACCCCAGT	0.378000													6	110					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17446183	17446183	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:17446183C>T	ENST00000262545.2	+	11	1730	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F	PCSK2_ENST00000536609.1_Missense_Mutation_p.S437F|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.S453F	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	472					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGGGAGGCTCCGTGCAGGAC	0.537000													8	31					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62536341	62536341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:62536341G>A	ENST00000430451.2	+	2	741	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	SYT16_ENST00000446982.2_Missense_Mutation_p.E182K|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	182										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGGGATGACGAAGAGCTGTC	0.478000													11	139					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21549761	21549761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:21549761C>T	ENST00000298694.4	+	14	2861	c.2734C>T	c.(2734-2736)Cca>Tca	p.P912S	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P912S			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	912					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCGGCGGGCCCCAGAGCCCAG	0.716000													6	54					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69058492	69058492	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:69058492T>A	ENST00000288368.4	+	34	4413	c.4136T>A	c.(4135-4137)gTt>gAt	p.V1379D		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1379					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCTCTGAAAGTTTACTTCTAC	0.328000													12	84					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54586115	54586115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:54586115C>T	ENST00000545554.1	+	10	3841	c.3841C>T	c.(3841-3843)Cga>Tga	p.R1281*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.R1281*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R1279*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1281	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCCACAGATCGAATCAAAGT	0.323000													4	73					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579231	33579231	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:33579231C>T	ENST00000228567.3	-	2	647	c.351G>A	c.(349-351)aaG>aaA	p.K117K	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	117						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTCATTTTCCTTAATTTCTT	0.413000													8	175					0	0	1	0	0
LYPLA1	10434	broad.mit.edu	37	8	54978369	54978369	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:54978369C>T	ENST00000316963.3	-	3	299	c.106G>A	c.(106-108)Gga>Aga	p.G36R	LYPLA1_ENST00000522007.1_Intron|LYPLA1_ENST00000519926.1_5'UTR|LYPLA1_ENST00000343231.6_Missense_Mutation_p.G36R	NM_006330.2	NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	36					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity	p.G36R(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			TCTGCCCATCCGTGCCTGGTG	0.383000													7	52					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67866389	67866389	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:67866389G>T	ENST00000562787.1	-	5	718	c.170C>A	c.(169-171)aCg>aAg	p.T57K	CENPT_ENST00000219172.3_Missense_Mutation_p.T57K|CENPT_ENST00000440851.2_Missense_Mutation_p.T57K|CENPT_ENST00000445712.2_5'UTR|CENPT_ENST00000564817.1_Missense_Mutation_p.T57K	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	57					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCTGGCTATCGTCCTTGTTTG	0.597000													7	60					2.0095e-06	2.04059e-06	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102482715	102482715	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:102482715C>T	ENST00000360184.4	+	37	7667	c.7503C>T	c.(7501-7503)tcC>tcT	p.S2501S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2501					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACTCTGGTCCCTGTCTGGAG	0.418000													5	70					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141290312	141290312	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:141290312T>A	ENST00000286364.3	+	11	1120	c.1085T>A	c.(1084-1086)tTg>tAg	p.L362*	RASA2_ENST00000452898.1_Nonsense_Mutation_p.L362*			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	362	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GATGCTGTTTTGCCCCTTGTA	0.388000													20	268					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026201	36026201	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:36026201C>T	ENST00000373243.2	+	3	832	c.449C>T	c.(448-450)tCc>tTc	p.S150F	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Missense_Mutation_p.S133F|NCDN_ENST00000356090.4_Missense_Mutation_p.S150F	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	150					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCCGCCGCTCCATGATTGAT	0.627000													11	201					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41568555	41568555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:41568555C>T	ENST00000263253.7	+	28	5724	c.4505C>T	c.(4504-4506)cCt>cTt	p.P1502L	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1502					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AAGGAATTGCCTTATTTCGAG	0.368000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				10	58					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010772	78010772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:78010772C>T	ENST00000435339.2	+	2	811	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LPAR4_ENST00000373301.2_Missense_Mutation_p.R136C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	136						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483000													8	95					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566587	136566587	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:136566587C>T	ENST00000264162.2	-	8	3340	c.3330G>A	c.(3328-3330)gaG>gaA	p.E1110E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1110	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCTGTATTTCTCATCGTACG	0.587000													9	110					0	0	1	0	0
GALNT16	57452	broad.mit.edu	37	14	69799831	69799831	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:69799831G>A	ENST00000337827.4	+	8	1135	c.808G>A	c.(808-810)Gag>Aag	p.E270K	GALNT16_ENST00000448469.3_Missense_Mutation_p.E270K|GALNT16_ENST00000553669.1_Missense_Mutation_p.E270K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		TTTCAAGTGGGAGCAGATCCC	0.617000													5	77					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160232744	160232744	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:160232744C>A	ENST00000275275.5	+	11	1003	c.832C>A	c.(832-834)Caa>Aaa	p.Q278K	PNLDC1_ENST00000392167.3_Missense_Mutation_p.Q289K	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	278						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAGCTACGATCAATTTAAGCA	0.403000													7	90					5.4927e-09	5.61718e-09	1	1	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652382	45652382	+	RNA	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:45652382G>A	ENST00000427229.2	+	0	1896																											GCAACATCTGGAAAGTTTGAA	0.433000													4	38					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113265469	113265469	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:113265469C>T	ENST00000401783.2	-	6	1668	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.P444P|SVEP1_ENST00000374461.1_Silent_p.P421P|SVEP1_ENST00000374469.1_Silent_p.P421P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	444	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCCATGTTTCGGCTGGCGGA	0.368000													14	144					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109696197	109696197	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:109696197C>T	ENST00000465301.2	+	3	2598	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L	RGAG1_ENST00000540313.1_Silent_p.L784L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	784										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTCACTGCTCACAAGAGCTT	0.532000													6	79					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729521	196729521	+	Silent	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:196729521G>T	ENST00000312428.6	-	41	6958	c.6858C>A	c.(6856-6858)atC>atA	p.I2286I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2286					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						CCACATCTGCGATTTCTCTGT	0.378000													15	245					1.3612e-06	1.38421e-06	1	1	0
ABCA10	10349	broad.mit.edu	37	17	67151948	67151948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:67151948C>T	ENST00000269081.4	-	30	4483	c.3574G>A	c.(3574-3576)Gag>Aag	p.E1192K	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1192					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTGTTCACCTCCTCCAAGTTT	0.413000													14	245					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236718728	236718728	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:236718728C>T	ENST00000366582.3	-	41	5905	c.5791G>A	c.(5791-5793)Gac>Aac	p.D1931N	HEATR1_ENST00000366581.2_Missense_Mutation_p.D1850N	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1931					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACAACCTGTCCTTTGGGGCA	0.413000													16	154					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466495	74466495	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:74466495C>T	ENST00000394019.2	-	21	2683	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377634.4_Silent_p.K762K|SLC4A5_ENST00000377632.1_Silent_p.K762K|SLC4A5_ENST00000358683.4_Silent_p.K698K|SLC4A5_ENST00000359484.4_Silent_p.K698K|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Silent_p.K762K|SLC4A5_ENST00000357822.5_Silent_p.K762K|SLC4A5_ENST00000423644.1_Silent_p.K762K	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	762						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATTTGAACTTCTTCAGGGTCA	0.537000													6	74					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88057136	88057136	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:88057136T>A	ENST00000504921.2	-	4	940	c.268A>T	c.(268-270)Aag>Tag	p.K90*	MEF2C_ENST00000340208.5_Nonsense_Mutation_p.K90*|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000506554.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000510942.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000514015.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000508569.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000514028.1_Nonsense_Mutation_p.K90*|MEF2C_ENST00000437473.2_Nonsense_Mutation_p.K90*			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	90					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGGCCCTTCTTTCTCAACGTC	0.453000										HNSCC(66;0.2)			8	116					0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178742978	178742978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:178742978G>A	ENST00000311417.2	-	6	1438	c.697C>T	c.(697-699)Cca>Tca	p.P233S	ZMAT3_ENST00000432729.1_Missense_Mutation_p.P232S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	233					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			AGATCACGTGGAATTCTCTGC	0.423000													10	87					0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18648428	18648428	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:18648428G>C	ENST00000597960.2	-	6	1048	c.928C>G	c.(928-930)Ctc>Gtc	p.L310V	FKBP8_ENST00000222308.3_Missense_Mutation_p.L310V|FKBP8_ENST00000596558.1_Missense_Mutation_p.L309V|FKBP8_ENST00000544835.2_Missense_Mutation_p.L150V|FKBP8_ENST00000453489.2_Missense_Mutation_p.L338V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	309					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TTGCGGAAGAGAGCCTTGATG	0.637000													5	39					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086361	53086361	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:53086361G>A	ENST00000540331.1	+	5	1472	c.1247G>A	c.(1246-1248)gGa>gAa	p.G416E	ZNF701_ENST00000301093.2_Missense_Mutation_p.G416E|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.G350E	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATTCACACTGGAGAGAAACCA	0.398000													11	153					0	0	1	0	0
TOE1	114034	broad.mit.edu	37	1	45807677	45807677	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:45807677G>C	ENST00000372090.5	+	5	973	c.390G>C	c.(388-390)gaG>gaC	p.E130D	TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.E50D	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	130						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GCATGGAGGAGTATGTCATAG	0.468000													5	105					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134386815	134386815	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:134386815C>T	ENST00000423007.1	+	10	1389	c.947C>T	c.(946-948)cCc>cTc	p.P316L	POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Missense_Mutation_p.P316L|POMT1_ENST00000419118.2_Missense_Mutation_p.P164L|POMT1_ENST00000372228.3_Missense_Mutation_p.P338L|POMT1_ENST00000404875.2_Missense_Mutation_p.P199L|POMT1_ENST00000354713.4_Missense_Mutation_p.P286L|POMT1_ENST00000541219.1_Missense_Mutation_p.P94L|POMT1_ENST00000341012.7_Missense_Mutation_p.P262L	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	338					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAACCTGTGCCCTGCTGGCTT	0.498000													8	90					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703751	55703751	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:55703751T>C	ENST00000301532.3	-	1	125	c.126A>G	c.(124-126)atA>atG	p.I42M		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAATGTTCCCTATCAGAATTA	0.398000													6	82					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208215711	208215711	+	Splice_Site	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:208215711C>A	ENST00000367033.3	-	22	4775	c.4017_splice	c.e22-1	p.V1340_splice		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1340					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTTCCTTGTACCTGGGGTGGG	0.612000													6	71					0.0215528	0.0216126	1	1	0
CTTN	2017	broad.mit.edu	37	11	70281216	70281216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:70281216G>C	ENST00000346329.3	+	17	1798	c.1490G>C	c.(1489-1491)tGc>tCc	p.C497S	CTTN_ENST00000538675.1_Missense_Mutation_p.C218S|CTTN_ENST00000376561.3_Missense_Mutation_p.C497S|CTTN_ENST00000301843.8_Missense_Mutation_p.C534S	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	534	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CGCGGGGTGTGCAAGGGCCGG	0.622000													5	76					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145657756	145657756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:145657756C>T	ENST00000409379.3	-	23	3676	c.3647G>A	c.(3646-3648)gGc>gAc	p.G1216D		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1216					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CAGGAGGGTGCCGGCGGGCAG	0.662000													13	107					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62478013	62478013	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:62478013C>T	ENST00000383710.4	-	20	3185	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	CADPS_ENST00000283269.9_Missense_Mutation_p.D956N|CADPS_ENST00000357948.3_Missense_Mutation_p.D916N	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	946	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGAAAACTGTCCCATGTGTCT	0.448000													27	453					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178494258	178494258	+	Silent	SNP	C	C	T	rs79512110	byFrequency	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:178494258C>T	ENST00000286063.5	-	20	2996	c.2679G>A	c.(2677-2679)ccG>ccA	p.P893P	PDE11A_ENST00000449286.2_Silent_p.P535P|PDE11A_ENST00000450799.2_Silent_p.P84P|PDE11A_ENST00000358450.4_Silent_p.P643P|PDE11A_ENST00000409504.1_Silent_p.P535P|PDE11A_ENST00000389683.3_Silent_p.P449P	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	893	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AATCTAGCATCGGCTTCAGTT	0.463000									Primary Pigmented Nodular Adrenocortical Disease, Familial				10	151					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35061120	35061120	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:35061120C>T	ENST00000358901.6	-	11	2146	c.1251G>A	c.(1249-1251)gaG>gaA	p.E417E		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	417					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCAGAGCAGCCTCTGAGCACA	0.512000													22	261					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156991411	156991411	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:156991411C>T	ENST00000257527.4	-	3	299	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	ADAM19_ENST00000394020.1_Missense_Mutation_p.R76Q|ADAM19_ENST00000517905.1_Missense_Mutation_p.R74Q|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	74					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCAGTTCTCGCCCCTCAGC	0.502000													5	68					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70514946	70514946	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:70514946G>A	ENST00000323786.5	-	19	2358	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	775	E domain; essential for proper cell surface glycosylation.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTTCACTGCGGAAGTCTATCC	0.612000													6	93					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106650653	106650653	+	Missense_Mutation	SNP	G	G	A	rs140843076		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:106650653G>A	ENST00000515279.1	+	5	1457	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000360505.5_Missense_Mutation_p.E413K|GSTCD_ENST00000507281.1_Missense_Mutation_p.E326K|GSTCD_ENST00000394728.3_Missense_Mutation_p.E413K|GSTCD_ENST00000394730.3_Missense_Mutation_p.E326K			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	413						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CAGCCCAAAGGAAGGTGAGTT	0.393000													7	62					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975065	44975065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:44975065G>A	ENST00000340446.4	-	1	1417	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	376	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTACTGAAGGAGACTTTTCA	0.522000													16	186					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927214	55927214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:55927214C>T	ENST00000313447.1	-	1	579	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AATTCTATTTCCTGTGCATTT	0.333000													7	110					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131388572	131388572	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:131388572A>T	ENST00000512055.1	-	11	2754	c.628T>A	c.(628-630)Ttc>Atc	p.F210I	CPNE4_ENST00000502818.1_Missense_Mutation_p.F228I|CPNE4_ENST00000429747.1_Missense_Mutation_p.F210I|CPNE4_ENST00000512332.1_Missense_Mutation_p.F228I|CPNE4_ENST00000511604.1_Missense_Mutation_p.F210I			Q96A23	CPNE4_HUMAN	copine IV	210	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GATACTTTGAATGATTTCCAG	0.408000													8	182					0	0	1	0	0
UBE2D2	7322	broad.mit.edu	37	5	138994175	138994175	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:138994175C>T	ENST00000253815.2	+	4	883	c.6C>T	c.(4-6)ttC>ttT	p.F2F	UBE2D2_ENST00000398733.3_Silent_p.F31F|UBE2D2_ENST00000511725.1_Silent_p.F2F|UBE2D2_ENST00000505548.1_Silent_p.F2F	NM_181838.1	NP_862821.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	31					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity	p.F31L(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTCAGTGTTCCATTGGCAAG	0.303000													6	113					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188123992	188123992	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:188123992C>T	ENST00000312675.4	+	3	330	c.84C>T	c.(82-84)tcC>tcT	p.S28S	LPP_ENST00000448637.1_Silent_p.S28S|LPP_ENST00000543006.1_Silent_p.S28S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	28					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCACCCATTCCTTTGGGAACC	0.522000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								30	280					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160793529	160793529	+	Silent	SNP	G	G	A	rs41266935		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:160793529G>A	ENST00000263285.5	+	8	1803	c.1773G>A	c.(1771-1773)acG>acA	p.T591T	LY9_ENST00000368041.2_Silent_p.T461T|LY9_ENST00000368040.1_Silent_p.T229T|LY9_ENST00000368035.1_Silent_p.T229T|LY9_ENST00000341032.4_Silent_p.T457T	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	591					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATATGTCACGGAAGTTGAGT	0.517000													11	253					0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391097	125391097	+	Missense_Mutation	SNP	G	G	A	rs138583280		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:125391097G>A	ENST00000304833.3	-	1	755	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GCTCGGCGGCGACCAGCAGCT	0.557000													6	102					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33658769	33658769	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:33658769C>T	ENST00000374316.5	+	53	8168	c.7108C>T	c.(7108-7110)Ctg>Ttg	p.L2370L	ITPR3_ENST00000605930.1_Silent_p.L2370L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2370					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCGCTCCATCCTGCTGACAGC	0.577000													6	87					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128332363	128332363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:128332363C>T	ENST00000392668.3	-	10	1419	c.1351G>A	c.(1351-1353)Ggg>Agg	p.G451R	ETS1_ENST00000345075.4_Missense_Mutation_p.G320R|ETS1_ENST00000531611.1_3'UTR|ETS1_ENST00000535549.1_Missense_Mutation_p.G191R|ETS1_ENST00000319397.5_Missense_Mutation_p.G407R|ETS1_ENST00000526145.1_Missense_Mutation_p.G320R	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	407					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TAGCGTTTCCCCGCTGTCTTG	0.522000													4	79					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110827026	110827026	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr13:110827026G>T	ENST00000375820.4	-	38	3390	c.3269C>A	c.(3268-3270)cCa>cAa	p.P1090Q		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1090	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGCATTCCTGGGATCCCAAT	0.522000													9	159					0.000274275	0.000277348	1	1	0
IVNS1ABP	10625	broad.mit.edu	37	1	185267255	185267255	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:185267255A>C	ENST00000367498.3	-	15	2463	c.1841T>G	c.(1840-1842)tTc>tGc	p.F614C	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.F396C	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	614					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ATTGCCATCGAATCCTCCCAC	0.398000													12	342					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277325	131277325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:131277325C>T	ENST00000337057.3	-	2	482	c.301G>A	c.(301-303)Gag>Aag	p.E101K	EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E101K|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E101K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E101K|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E101K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E101K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	101					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGGGTAGgctcttttttatct	0.453000													15	268					0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30509843	30509843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:30509843C>T	ENST00000358365.3	+	7	624	c.397C>T	c.(397-399)Cct>Tct	p.P133S	RHOT1_ENST00000583994.1_Missense_Mutation_p.P6S|RHOT1_ENST00000581094.1_Missense_Mutation_p.P133S|RHOT1_ENST00000545287.2_Missense_Mutation_p.P133S|RHOT1_ENST00000394692.2_Missense_Mutation_p.P133S|RHOT1_ENST00000354266.3_Missense_Mutation_p.P112S|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000333942.6_Missense_Mutation_p.P133S	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	133	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GACCATCCTTCCTATTATGAA	0.338000													9	167					0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91552139	91552139	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:91552139G>A	ENST00000052754.5	-	4	973	c.472C>T	c.(472-474)Cat>Tat	p.H158Y	DCN_ENST00000303320.3_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.H158Y|DCN_ENST00000425043.1_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.H158Y|DCN_ENST00000547568.2_Intron|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	158					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCATTCTCATGGGCACGCAGC	0.393000													11	218					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44110815	44110815	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:44110815A>G	ENST00000262419.6	-	12	3148	c.2678T>C	c.(2677-2679)gTt>gCt	p.V893A	KANSL1_ENST00000432791.1_Missense_Mutation_p.V893A|KANSL1_ENST00000572904.1_Missense_Mutation_p.V893A|KANSL1_ENST00000575318.1_Missense_Mutation_p.V829A|KANSL1_ENST00000393476.3_Missense_Mutation_p.V187A|KANSL1_ENST00000574590.1_Missense_Mutation_p.V893A	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	893						MLL1 complex	protein binding										CTGAAGATCAACCTCCCGCCA	0.488000													5	30					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154875986	154875986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:154875986G>A	ENST00000287907.2	+	2	1439	c.863G>A	c.(862-864)gGc>gAc	p.G288D	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	288						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTCATGGTGGGCATCCTCATT	0.632000													7	91					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30084777	30084777	+	Silent	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:30084777T>C	ENST00000449726.1	+	2	467	c.117T>C	c.(115-117)ggT>ggC	p.G39G	PLEKHA8_ENST00000396257.2_Silent_p.G39G|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396259.1_Silent_p.G39G|PLEKHA8_ENST00000258679.7_Silent_p.G39G	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	39	PH.				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CCTGGAAAGGTTGCAAAGGGA	0.403000													13	172					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22182344	22182344	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:22182344G>A	ENST00000374695.3	-	45	5716	c.5637C>T	c.(5635-5637)ccC>ccT	p.P1879P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1879	Ig-like C2-type 4.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAGTTGCCCGGGCTGCACTG	0.652000													4	38					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79440498	79440498	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:79440498C>T	ENST00000264895.6	+	67	10843	c.10403C>T	c.(10402-10404)gCc>gTc	p.A3468V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3463					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGGACTCTGCCCAGTCCTTC	0.522000													20	173					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206651635	206651635	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:206651635C>T	ENST00000367120.3	+	9	1318	c.945C>T	c.(943-945)tcC>tcT	p.S315S	IKBKE_ENST00000537984.1_Silent_p.S230S|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	315	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ATGTCTTCTCCCTGTCCCAGG	0.582000													8	141					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200698	128200698	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:128200698G>A	ENST00000341105.2	-	5	1438	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	GATA2_ENST00000487848.1_Silent_p.V369V|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.V355V	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	369					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGGCGTTGCAGACAGGGTCCC	0.652000			Mis		AML(CML blast transformation)								8	68					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667151	157667151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:157667151G>A	ENST00000368184.3	-	6	914	c.623C>T	c.(622-624)aCc>aTc	p.T208I	FCRL3_ENST00000368186.5_Missense_Mutation_p.T208I|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	208	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACAGGTCAGGGTCATGGGACT	0.547000													8	107					0	0	1	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28120896	28120896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:28120896C>T	ENST00000330236.6	+	6	1022	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.Q280*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		TACTGGAATCCAGCCACATGG	0.463000													6	119					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78882691	78882691	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:78882691G>A	ENST00000306801.3	+	21	2844	c.2482G>A	c.(2482-2484)Gac>Aac	p.D828N	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.D670N	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	828					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGAGGTCTCGGACGTGGCCAT	0.552000													19	346					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13701416	13701416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:13701416C>T	ENST00000265104.4	-	77	13572	c.13468G>A	c.(13468-13470)Gga>Aga	p.G4490R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4490					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTAAAAATCCCTGGGGGTTA	0.408000									Kartagener syndrome				15	146					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34789448	34789448	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:34789448C>T	ENST00000192788.5	+	2	234	c.63C>T	c.(61-63)tcC>tcT	p.S21S	UHRF1BP1_ENST00000452449.2_Silent_p.S21S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	21										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGAATCTTTCCCCAGACAAAA	0.443000													4	66					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504289	70504289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:70504289C>T	ENST00000310961.5	+	22	3101	c.2683C>T	c.(2683-2685)Cca>Tca	p.P895S	LRRC7_ENST00000035383.5_Missense_Mutation_p.P890S|LRRC7_ENST00000415775.2_Missense_Mutation_p.P174S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	890						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCCTTTTTCTCCAGGCGTACC	0.433000													9	142					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52361760	52361760	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:52361760C>T	ENST00000296585.5	+	15	2039	c.1896C>T	c.(1894-1896)tcC>tcT	p.S632S		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	632					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATGGGGATTCCATCACCGATG	0.448000													13	123					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	14066323	14066323	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:14066323C>T	ENST00000217246.4	+	3	615	c.220C>T	c.(220-222)Ctc>Ttc	p.L74F	MACROD2_ENST00000310348.4_Missense_Mutation_p.L74F	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	74	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAAAGTTTCTCTCTATAGAGG	0.313000													7	54					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55816854	55816854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:55816854G>A	ENST00000309383.1	+	16	2067	c.1790G>A	c.(1789-1791)gGg>gAg	p.G597E	BRSK1_ENST00000326848.7_Missense_Mutation_p.G292E|BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000590333.1_Missense_Mutation_p.G613E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	597					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCCTGGTTCGGGAACTTCATC	0.537000													11	237					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171338243	171338243	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:171338243G>A	ENST00000356327.5	-	23	2617	c.2547C>T	c.(2545-2547)aaC>aaT	p.N849N	PLD1_ENST00000351298.4_Silent_p.N887N|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Silent_p.N887N	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	887	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAGTTACTAGGTTTCCTTCGA	0.313000													9	116					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53514638	53514638	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:53514638C>T	ENST00000301466.3	+	11	1168	c.1108C>T	c.(1108-1110)Cta>Tta	p.L370L		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	370					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TGCCGAGATGCTACGATTTGG	0.567000													6	113					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863409	23863409	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:23863409C>T	ENST00000405093.3	-	21	2623	c.2553G>A	c.(2551-2553)atG>atA	p.M851I	MYH6_ENST00000356287.3_Missense_Mutation_p.M851I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	851					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCATGGTGGCCATCTCCTTCT	0.577000													6	82					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22414906	22414906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:22414906C>A	ENST00000334304.5	-	14	2400	c.2131G>T	c.(2131-2133)Gga>Tga	p.G711*	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	711	GPS.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.G711*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCTCCTTGTCCGTTCAGCAAA	0.453000													19	210					3.51602e-12	3.61104e-12	1	1	0
PCSK2	5126	broad.mit.edu	37	20	17446184	17446184	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:17446184C>T	ENST00000262545.2	+	11	1731	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	PCSK2_ENST00000536609.1_Silent_p.S437S|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.S453S	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	472					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGGAGGCTCCGTGCAGGACC	0.542000													8	30					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101059788	101059788	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:101059788G>A	ENST00000360863.6	-	11	1920	c.1726C>T	c.(1726-1728)Ccc>Tcc	p.P576S	RGS22_ENST00000523287.1_Missense_Mutation_p.P395S|RGS22_ENST00000523437.1_Missense_Mutation_p.P564S	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	576					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GATTTATTGGGAGATTTAGGA	0.383000													20	105					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056928	48056928	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:48056928C>T	ENST00000316364.5	+	12	1630	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	SEMA6D_ENST00000358066.4_Silent_p.P397P|SEMA6D_ENST00000389432.2_Silent_p.P397P|SEMA6D_ENST00000558014.1_Silent_p.P397P|SEMA6D_ENST00000355997.3_Silent_p.P397P|SEMA6D_ENST00000389428.3_Silent_p.P397P|SEMA6D_ENST00000537942.1_Silent_p.P397P|SEMA6D_ENST00000389433.2_Silent_p.P397P|SEMA6D_ENST00000354744.4_Silent_p.P397P|SEMA6D_ENST00000389425.3_Silent_p.P397P|SEMA6D_ENST00000536845.2_Silent_p.P397P|SEMA6D_ENST00000558816.1_Silent_p.P397P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	397	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AATCTCATCCCCTGATGGACT	0.498000													6	82					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103324678	103324678	+	Silent	SNP	T	T	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:103324678T>C	ENST00000520539.1	-	17	2649	c.2043A>G	c.(2041-2043)aaA>aaG	p.K681K	UBR5_ENST00000220959.4_Silent_p.K681K|UBR5_ENST00000521922.1_Silent_p.K675K	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	681					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCCTGGAAATTTTACAGCAA	0.383000													6	128					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94546075	94546075	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:94546075G>A	ENST00000370225.3	-	8	1144	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	ABCA4_ENST00000535735.1_Missense_Mutation_p.S353F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	353					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTTCCTTGTGGAGTCAATCCC	0.453000													8	160					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25925294	25925294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:25925294C>T	ENST00000356865.6	-	20	3951	c.3840G>A	c.(3838-3840)atG>atA	p.M1280I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1280					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGACAGGCGTCATCAGGCAAG	0.557000													8	184					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178808	223178808	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:223178808C>T	ENST00000284476.6	+	8	4233	c.4069C>T	c.(4069-4071)Ctc>Ttc	p.L1357F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1357					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAATTTTTTCCTCCACCCAGT	0.512000													4	74					0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52828415	52828415	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:52828415C>T	ENST00000371586.2	-	3	211	c.73G>A	c.(73-75)Ggg>Agg	p.G25R	CC2D1B_ENST00000284376.3_Missense_Mutation_p.G25R|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	25										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						ATAAAGAGCCCCATCTGAGAG	0.577000													9	176					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34941270	34941270	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:34941270C>T	ENST00000382021.2	+	7	1192	c.965C>T	c.(964-966)tCg>tTg	p.S322L	DNAJC21_ENST00000303525.7_Missense_Mutation_p.S322L|DNAJC21_ENST00000342382.4_Missense_Mutation_p.S322L	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	322	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TGTGACAAATCGTTCAAGACA	0.443000													14	83					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911030	230911030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:230911030G>A	ENST00000295190.4	-	4	1270	c.812C>T	c.(811-813)gCc>gTc	p.A271V		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	271						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCTGTGCCCGGCCTGATCGGG	0.587000													11	169					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9001443	9001443	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:9001443C>T	ENST00000299698.7	+	16	2141	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	A2ML1_ENST00000539547.1_Missense_Mutation_p.S163L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	498						extracellular space	endopeptidase inhibitor activity	p.S654L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAAGGGCATTCGAGCCAGCGT	0.527000													13	348					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148984409	148984409	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:148984409C>T	ENST00000336498.3	+	21	2377	c.2138C>T	c.(2137-2139)cCc>cTc	p.P713L	ARHGAP10_ENST00000414545.2_Intron	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	713					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TCCCCTTTCCCCTTTTCTCCT	0.547000													4	55					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135756431	135756431	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:135756431C>T	ENST00000375845.3	-	5	481	c.451G>A	c.(451-453)Gag>Aag	p.E151K	MAP3K19_ENST00000392915.1_Missense_Mutation_p.E168K|MAP3K19_ENST00000392917.3_Missense_Mutation_p.E151K|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Missense_Mutation_p.E151K|MAP3K19_ENST00000375844.3_Missense_Mutation_p.E151K|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TTGCAGAGCTCCCTGGAACTT	0.423000													8	108					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90856924	90856924	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:90856924G>A	ENST00000394980.1	+	7	2412	c.2093G>A	c.(2092-2094)aGa>aAa	p.R698K	MMRN1_ENST00000508372.1_Missense_Mutation_p.R440K|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.R698K			Q13201	MMRN1_HUMAN	multimerin 1	698					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTACAAAAAGACACAACTTA	0.333000													7	84					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813734	106813734	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:106813734C>T	ENST00000407775.2	+	8	1674	c.1424C>T	c.(1423-1425)tCt>tTt	p.S475F	ZFPM2_ENST00000520492.1_Missense_Mutation_p.S343F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S206F|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S343F|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	475					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTGAGCCCTCTAGCCCAAGA	0.443000													13	134					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50686181	50686181	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:50686181C>T	ENST00000216271.5	-	14	1714	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E	HDAC10_ENST00000349505.4_Silent_p.E434E|HDAC10_ENST00000448072.1_Silent_p.E404E|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	454					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		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)		TGAGGGCCTCCTCCCGGGCCA	0.622000													10	80					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113974	56113974	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:56113974C>T	ENST00000279783.2	+	1	554	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GGTAATTGTTCCCTATCTCTA	0.398000										HNSCC(65;0.19)			15	275					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655329	138655329	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:138655329G>A	ENST00000251691.4	+	33	5512	c.5346G>A	c.(5344-5346)agG>agA	p.R1782R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1782					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGACTGCCAGGGAGTTTGACA	0.557000													7	41					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14808075	14808075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:14808075C>T	ENST00000380881.4	-	18	3769	c.2954G>A	c.(2953-2955)gGa>gAa	p.G985E	FREM1_ENST00000422223.2_Missense_Mutation_p.G984E|FREM1_ENST00000380880.3_Missense_Mutation_p.G984E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	984					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCAGCCTCTCCATCCGAAAC	0.458000													25	125					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000													7	67					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4896812	4896812	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:4896812G>A	ENST00000381781.2	-	2	371	c.372C>T	c.(370-372)acC>acT	p.T124T		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	124					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CAAATTTGCTGGTGAAGGTAG	0.448000													6	126					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925718	27925718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:27925718C>T	ENST00000244623.1	+	1	700	c.700C>T	c.(700-702)Cga>Tga	p.R234*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCTGAAGGTCGACAAAAAGC	0.453000													9	210					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207304950	207304950	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:207304950A>G	ENST00000367070.3	+	8	1143	c.949A>G	c.(949-951)Aca>Gca	p.T317A		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	317	Sushi 5.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCCTAGGCCGACAAAAGAGGA	0.423000													5	69					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71482527	71482527	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:71482527C>T	ENST00000296755.7	+	4	754	c.456C>T	c.(454-456)ctC>ctT	p.L152L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	152						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGCTCATTCTCCAGTCCGGCT	0.493000													7	127					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223478647	223478647	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:223478647C>T	ENST00000281828.6	-	15	1608	c.1344_splice	c.e15-1	p.V449_splice	FARSB_ENST00000536361.1_Splice_Site_p.V350_splice	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	449					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GTGCGTGCCACCTACAGGAAA	0.443000													4	77					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149759182	149759182	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:149759182C>T	ENST00000451292.1	+	17	2854	c.2746C>T	c.(2746-2748)Cct>Tct	p.P916S	TCOF1_ENST00000323668.7_Missense_Mutation_p.P839S|TCOF1_ENST00000504761.2_Missense_Mutation_p.P916S|TCOF1_ENST00000513346.1_Missense_Mutation_p.P916S|TCOF1_ENST00000445265.2_Missense_Mutation_p.P839S|TCOF1_ENST00000394269.3_Missense_Mutation_p.P916S|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000377797.3_Missense_Mutation_p.P916S|TCOF1_ENST00000439160.2_Missense_Mutation_p.P916S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	916					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAACACCTCCTGGGAAGAC	0.627000													8	132					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109680255	109680255	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:109680255C>T	ENST00000338432.7	+	37	5155	c.5036C>T	c.(5035-5037)tCc>tTc	p.S1679F	ACACB_ENST00000377848.3_Missense_Mutation_p.S1679F|ACACB_ENST00000543201.1_Missense_Mutation_p.S345F|ACACB_ENST00000377854.5_Missense_Mutation_p.S1609F			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1679					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ATGTTTCACTCCTTCGGCAAC	0.522000													5	113					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64716267	64716267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:64716267C>T	ENST00000261884.3	+	10	1456	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	466					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CCACAGAGGACGACTTTGGAT	0.458000													8	76					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36122984	36122984	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:36122984C>T	ENST00000377966.3	+	21	3424	c.2858C>T	c.(2857-2859)tCc>tTc	p.S953F		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	953						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCTTGCCACTCCCTCCTCCTT	0.592000													12	104					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25676153	25676153	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:25676153G>A	ENST00000382051.3	+	12	1410	c.1360G>A	c.(1360-1362)Gct>Act	p.A454T	SLC34A2_ENST00000503434.1_Missense_Mutation_p.A453T|SLC34A2_ENST00000504570.1_Missense_Mutation_p.A453T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	454					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CATTGAGAGGGCTTATCCACT	0.567000			T	ROS1	NSCLC								13	154					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839357	62839357	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:62839357G>A	ENST00000536311.1	+	7	1172	c.808G>A	c.(808-810)Gag>Aag	p.E270K	MYT1_ENST00000328439.1_Missense_Mutation_p.E270K|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	270	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ggaggaagaggaggaggagga	0.572000													5	23					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073129	9073129	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:9073129C>T	ENST00000397910.4	-	3	14520	c.14317G>A	c.(14317-14319)Gtt>Att	p.V4773I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4775	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						GACATAGAAACAGGAGAGGAG	0.478000													7	102					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79556324	79556324	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:79556324G>A	ENST00000372391.2	-	28	5198	c.5193C>T	c.(5191-5193)gtC>gtT	p.V1731V	DLG5_ENST00000372388.2_Silent_p.V1391V|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1731	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCACCTTCTGGACCCGCTGAT	0.617000													5	76					0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178742977	178742977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:178742977G>A	ENST00000311417.2	-	6	1439	c.698C>T	c.(697-699)cCa>cTa	p.P233L	ZMAT3_ENST00000432729.1_Missense_Mutation_p.P232L	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	233					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			CAGATCACGTGGAATTCTCTG	0.428000													10	87					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772086	4772086	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:4772086C>T	ENST00000378191.4	+	2	537	c.156C>T	c.(154-156)ctC>ctT	p.L52L	AJAP1_ENST00000378190.3_Silent_p.L52L|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	52					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		AGTTCTGGCTCCTgccgcggt	0.741000													11	197					0	0	1	0	0
BARHL1	56751	broad.mit.edu	37	9	135458563	135458563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:135458563G>A	ENST00000263610.2	+	1	992	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	BARHL1_ENST00000542090.1_Missense_Mutation_p.G127S	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	127						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TGAGCCTGGGGGCCGCCTTGC	0.607000													11	121					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233294	43233294	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:43233294G>A	ENST00000327495.5	-	5	1408	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	PSG3_ENST00000595140.1_Silent_p.S408S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	408	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.S408S(1)		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)				TGACTGTCATGGATTTGGAGC	0.463000													17	288					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623250	100623250	+	Silent	SNP	G	G	A	rs138844530	by1000genomes	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:100623250G>A	ENST00000317233.4	-	6	952	c.717C>T	c.(715-717)gaC>gaT	p.D239D	AFF3_ENST00000409579.1_Silent_p.D264D|AFF3_ENST00000409236.1_Silent_p.D239D|AFF3_ENST00000356421.2_Silent_p.D264D	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	239					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATCTTGGCCGTCCATTGGCC	0.572000													4	80					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21857054	21857054	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:21857054C>T	ENST00000434536.1	+	24	2780	c.2678C>T	c.(2677-2679)cCc>cTc	p.P893L	XPO7_ENST00000433566.4_Missense_Mutation_p.P885L|XPO7_ENST00000252512.9_Missense_Mutation_p.P884L			Q9UIA9	XPO7_HUMAN	exportin 7	884					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAGGATTACCCCAAGCTCAGC	0.458000													9	163					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211247	78211247	+	RNA	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:78211247C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							AGCCTCTTTTCCTGCTTTTGC	0.572000													18	221					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151263026	151263026	+	Missense_Mutation	SNP	C	C	T	rs60042414	by1000genomes	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:151263026C>T	ENST00000368879.2	+	8	3355	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACCTTGGCTCGGGGTTCCAG	0.652000													7	134					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98893488	98893488	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:98893488C>T	ENST00000295268.3	-	7	965	c.876G>A	c.(874-876)cgG>cgA	p.R292R		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		AGAAGAAAGTCCGAGGAACAG	0.348000													6	95					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39436031	39436031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:39436031G>A	ENST00000257408.4	+	2	1124	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	343	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CTATCCAGAGGGGATGAGAAA	0.453000													16	114					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134713948	134713948	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:134713948C>T	ENST00000370752.4	+	15	2578	c.2244C>T	c.(2242-2244)tcC>tcT	p.S748S	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	748										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTCTCTCCGTAGATGACC	0.428000													8	53					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579624	58579624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:58579624C>T	ENST00000506786.1	+	5	2200	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F	ZNF135_ENST00000439855.2_Missense_Mutation_p.S591F|ZNF135_ENST00000401053.4_Missense_Mutation_p.S615F|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.S591F|ZNF135_ENST00000511556.1_Missense_Mutation_p.S603F			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	603					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCCACAGCTCCTCGCTCAGC	0.552000													8	137					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411521	105411521	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:105411521G>A	ENST00000333244.5	-	7	10386	c.10267C>T	c.(10267-10269)Ccc>Tcc	p.P3423S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3423						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGCCTTGGGGACTTTTAGG	0.622000													30	324					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127728910	127728910	+	Silent	SNP	G	G	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:127728910G>T	ENST00000508053.1	-	16	2357	c.1383C>A	c.(1381-1383)atC>atA	p.I461I	FBN2_ENST00000508989.1_Silent_p.I428I|FBN2_ENST00000262464.4_Silent_p.I461I			P35556	FBN2_HUMAN	fibrillin 2	461					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCCTCCAGGGATGGGGATGA	0.602000													11	144					9.70103e-10	9.93495e-10	1	1	0
MUS81	80198	broad.mit.edu	37	11	65631360	65631360	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:65631360C>T	ENST00000308110.4	+	10	1396	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	MUS81_ENST00000533035.1_Silent_p.F274F	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	349	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ACGGCCGCTTCCGGGAGCAGA	0.587000								Homologous recombination					6	75					0	0	1	0	0
OMD	4958	broad.mit.edu	37	9	95179095	95179095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:95179095G>A	ENST00000375550.4	-	2	1021	c.746C>T	c.(745-747)cCc>cTc	p.P249L	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	249					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GTATTTTTCGGGTATAGAAGA	0.338000			T	USP6	aneurysmal bone cysts								9	130					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772876	229772876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:229772876C>T	ENST00000258243.2	+	4	2652	c.2516C>T	c.(2515-2517)cCc>cTc	p.P839L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	839						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAGCAGCTTCCCTGGCTTTTT	0.488000													9	155					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587126	204587126	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:204587126G>A	ENST00000367175.1	-	1	4207	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L	LRRN2_ENST00000367176.3_Silent_p.L665L|LRRN2_ENST00000367177.3_Silent_p.L665L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	665					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGCTGGAGGGAGAGGCCGCC	0.662000													6	98					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44106796	44106796	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:44106796G>A	ENST00000267812.3	-	4	752	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	174						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTCCAGAACGACCCTCATCT	0.483000													7	162					0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33834701	33834701	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:33834701A>T	ENST00000246186.6	+	2	390	c.305A>T	c.(304-306)cAc>cTc	p.H102L	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	102					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTGCGCTGCACTCAGCGAAG	0.507000													6	110					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39851152	39851152	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:39851152G>A	ENST00000303538.8	-	27	3746	c.3207C>T	c.(3205-3207)tcC>tcT	p.S1069S		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1069					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CATTTGTCTTGGATTCATCTG	0.348000													16	108					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42452042	42452042	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:42452042G>A	ENST00000262407.5	-	28	2959	c.2928C>T	c.(2926-2928)ccC>ccT	p.P976P	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	976					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CTTCCCCTCGGGGCAGGCTGA	0.632000													4	73					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758375	25758375	+	RNA	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:25758375C>T	ENST00000586223.1	+	0	2809					NR_033892.1																						CCCGAGATCCCAAACAAGCTT	0.438000											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136798	80136798	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:80136798A>C	ENST00000466387.1	+	11	1655	c.931A>C	c.(931-933)Atc>Ctc	p.I311L	CTNNA2_ENST00000402739.4_Missense_Mutation_p.I311L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I311L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I311L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I311L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.I345L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	311					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGAGAGCATCATCAGCGGCGC	0.632000													7	136					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173292	161173292	+	Splice_Site	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:161173292G>A	ENST00000308192.9	+	18	2334	c.2271_splice	c.e18+1	p.Q757_splice		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	757	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACAGTTGCCAGGTAAGCAAAG	0.473000													7	60					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124396775	124396775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:124396775C>T	ENST00000368909.3	+	51	6608	c.6502C>T	c.(6502-6504)Ccg>Tcg	p.P2168S	DMBT1_ENST00000330163.4_Missense_Mutation_p.P1540S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1540S|DMBT1_ENST00000344338.3_Missense_Mutation_p.P2158S|DMBT1_ENST00000359586.6_Missense_Mutation_p.P888S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P2158S|DMBT1_ENST00000338354.3_Missense_Mutation_p.P2168S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2168	ZP.				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)				CCAGATAACGCCGAACCTGGT	0.522000													5	52					0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87042814	87042814	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:87042814G>A	ENST00000393761.2	-	4	579	c.521C>T	c.(520-522)cCt>cTt	p.P174L	CD8B_ENST00000331469.2_Silent_p.T216T|CD8B_ENST00000349455.3_Silent_p.T186T|CD8B_ENST00000393759.2_3'UTR	NM_001178100.1	NP_001171571.1	P10966	CD8B_HUMAN	CD8b molecule	0					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GGGGGACAAAGGTTCCTGATA	0.433000													24	385					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47628527	47628527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:47628527C>T	ENST00000371917.4	+	28	3824	c.3824C>T	c.(3823-3825)tCa>tTa	p.S1275L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1275					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGTGCTTATCAGAGTTCGCC	0.517000													9	185					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304953	10304953	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:10304953C>T	ENST00000403437.2	-	23	2932	c.2838G>A	c.(2836-2838)ctG>ctA	p.L946L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	946					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCATCCTCCAGTTTTCTCT	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				20	430					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672296	99672296	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:99672296G>A	ENST00000336292.6	+	5	3848	c.3728G>A	c.(3727-3729)gGg>gAg	p.G1243E	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1244	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCTGCTGCAGGGAAGGTTGGT	0.483000													7	92					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209203266	209203266	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:209203266C>T	ENST00000264380.4	+	29	4804	c.4646C>T	c.(4645-4647)tCt>tTt	p.S1549F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1549					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CGGAATATTTCTCCAGGACTT	0.323000													4	48					0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238434338	238434338	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:238434338A>T	ENST00000264605.3	+	7	1064	c.770A>T	c.(769-771)cAt>cTt	p.H257L	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.H217L|MLPH_ENST00000445024.2_Missense_Mutation_p.H257L|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000338530.4_Missense_Mutation_p.H257L	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	257							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TGCCACTCCCATCCGGAAGAG	0.652000													5	69					0	0	1	0	0
ZNF506	440515	broad.mit.edu	37	19	19917755	19917755	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:19917755G>A	ENST00000443905.2	-	2	273	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ZNF506_ENST00000540806.2_Silent_p.F42F|ZNF506_ENST00000587461.1_Silent_p.F42F|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587452.1_Silent_p.F42F|ZNF506_ENST00000545006.1_Silent_p.F42F|ZNF506_ENST00000450683.2_Silent_p.F42F			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CCTCACCAAGGAAGATCAGGT	0.363000													8	161					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003361	34003361	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr21:34003361G>A	ENST00000382491.3	-	28	4649	c.4525C>T	c.(4525-4527)Cct>Tct	p.P1509S	SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1595S|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1556S|SYNJ1_ENST00000382499.2_3'UTR	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1556	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCGTGAAAGGATCTACTGGA	0.512000													7	46					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423211	107423211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:107423211G>A	ENST00000409382.3	-	6	2123	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R505C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	505					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTGCCCTTGCGATGCAAATCC	0.577000													5	114					0	0	1	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078641	107078641	+	RNA	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:107078641G>A	ENST00000390628.2	-	0	143																											CTTCACCTCAGGCCCAGACTG	0.562000													6	102					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228278	140228278	+	Silent	SNP	G	G	A	rs71588635		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:140228278G>A	ENST00000378122.3	+	1	922	c.198G>A	c.(196-198)ttG>ttA	p.L66L	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L66L|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCCAGTTGGATTCCAAAG	0.637000													15	308					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107560849	107560849	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:107560849G>A	ENST00000374736.3	-	37	5368	c.4974C>T	c.(4972-4974)tcC>tcT	p.S1658S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1658					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGACACAGATGGACACAAGGA	0.493000													4	56					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56879311	56879311	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:56879311C>T	ENST00000520220.2	+	9	1039	c.765C>T	c.(763-765)acC>acT	p.T255T	LYN_ENST00000420292.1_3'UTR|LYN_ENST00000519728.1_Silent_p.T276T	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	276	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CTGTGAAAACCCTGAAGCCAG	0.498000													5	63					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20403883	20403883	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr14:20403883T>G	ENST00000285600.4	+	1	117	c.58T>G	c.(58-60)Tcc>Gcc	p.S20A		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	20					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)		ACTCTCTAATTCCTGGGGACT	0.343000													23	341					0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16727307	16727307	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:16727307T>G	ENST00000335496.1	-	11	1564	c.1082A>C	c.(1081-1083)aAg>aCg	p.K361T	SPATA21_ENST00000540400.1_Missense_Mutation_p.K338T|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	361							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GTAGGGAAGCTTCTGCAACCG	0.587000													12	319					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219903262	219903262	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:219903262C>T	ENST00000341552.5	-	4	275	c.192G>A	c.(190-192)aaG>aaA	p.K64K	CCDC108_ENST00000441968.1_Silent_p.K64K|CCDC108_ENST00000453220.1_Silent_p.K64K|CCDC108_ENST00000295729.2_5'UTR|CCDC108_ENST00000324264.6_5'UTR|CCDC108_ENST00000409865.3_Silent_p.K53K|CCDC108_ENST00000410037.1_5'UTR	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	64						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATCATGTCCTTGGGACACA	0.582000													4	37					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139100649	139100649	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:139100649G>A	ENST00000358701.5	-	12	2059	c.2022C>T	c.(2020-2022)ttC>ttT	p.F674F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	674					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCACCATGAGGAACAGGGATG	0.637000													11	157					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24942209	24942209	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:24942209C>T	ENST00000289968.6	-	19	2480	c.2411G>A	c.(2410-2412)aGg>aAg	p.R804K	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.R726K|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	804	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGGCCGGTTCCTTGGCTTTGG	0.612000													12	278					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70641765	70641765	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:70641765C>T	ENST00000298596.6	+	2	445	c.362C>T	c.(361-363)cCt>cTt	p.P121L	STOX1_ENST00000399165.4_Missense_Mutation_p.P121L|STOX1_ENST00000399169.4_Missense_Mutation_p.P121L|STOX1_ENST00000399162.2_Missense_Mutation_p.P121L|STOX1_ENST00000421961.2_Missense_Mutation_p.P11L	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	121						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CAGTTCGTACCTTTGGGTGAA	0.378000													8	157					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214088	1214088	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:1214088G>A	ENST00000304460.10	+	6	851	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	265					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGGCCCAGCCGGACACCTGGC	0.657000													17	105					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70493873	70493873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:70493873G>A	ENST00000310961.5	+	19	2133	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	LRRC7_ENST00000035383.5_Missense_Mutation_p.R567Q|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	567						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AACCTAAAACGATATCCAACT	0.323000													7	163					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76130015	76130015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:76130015G>A	ENST00000318430.5	+	7	1124	c.750G>A	c.(748-750)tgG>tgA	p.W250*	TMC8_ENST00000589691.1_Nonsense_Mutation_p.W27*	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	250						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TCTCCTCATGGGACTTCTGCA	0.592000													5	70					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181080	81181080	+	RNA	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:81181080T>A	ENST00000525539.1	-	0	5010				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATGGCACCTTGAGAGCTTTG	0.547000													7	99					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53715145	53715145	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:53715145G>A	ENST00000209873.4	-	1	270	c.105C>T	c.(103-105)ccC>ccT	p.P35P	AAAS_ENST00000394384.3_Silent_p.P35P|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	35					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGAAGTCGGGGGGCGGGCTCT	0.652000													8	164					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16435641	16435641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:16435641G>A	ENST00000380672.4	-	6	2608	c.2551C>T	c.(2551-2553)Cac>Tac	p.H851Y	BNC2_ENST00000380667.2_Missense_Mutation_p.H784Y|BNC2_ENST00000380666.2_Missense_Mutation_p.H851Y|BNC2_ENST00000545497.1_Missense_Mutation_p.H756Y	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	851					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCCTGTAGTGAAGTTTCACA	0.478000													11	108					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100533088	100533088	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chrX:100533088C>T	ENST00000372907.3	-	8	795	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	TAF7L_ENST00000324762.6_Missense_Mutation_p.E176K|TAF7L_ENST00000356784.1_Missense_Mutation_p.E176K|TAF7L_ENST00000372905.2_Missense_Mutation_p.E176K	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	262					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTTCATTTTCCACGTCTGGA	0.448000													6	40					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487975	24487975	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:24487975C>T	ENST00000264463.4	-	12	2671	c.2164G>A	c.(2164-2166)Gat>Aat	p.D722N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	722					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGGTCAAGATCATGCTCTTTT	0.443000										HNSCC(23;0.051)			13	128					0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43472550	43472550	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:43472550G>A	ENST00000372444.2	+	11	1034	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TJAP1_ENST00000372452.1_Missense_Mutation_p.E201K|TJAP1_ENST00000259751.1_Missense_Mutation_p.E201K|TJAP1_ENST00000372445.5_Missense_Mutation_p.E211K|TJAP1_ENST00000438588.2_Missense_Mutation_p.E211K|TJAP1_ENST00000436109.2_Missense_Mutation_p.E201K|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.E211K	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	211						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGTGGTCAAGAGGCCGCCAG	0.562000													10	211					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37187041	37187041	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:37187041C>T	ENST00000262879.6	+	23	3760	c.3476C>T	c.(3475-3477)cCt>cTt	p.P1159L	RALGAPB_ENST00000397040.1_Missense_Mutation_p.P1159L|RALGAPB_ENST00000397042.3_Missense_Mutation_p.P1155L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.P937L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1159	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.P1159H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCATGTCGTCCTTTTGACACA	0.378000													11	260					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737755	152737755	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:152737755G>A	ENST00000367255.5	-	41	6418	c.5817C>T	c.(5815-5817)atC>atT	p.I1939I	SYNE1_ENST00000448038.1_Silent_p.I1946I|SYNE1_ENST00000265368.4_Silent_p.I1939I|SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000423061.1_Silent_p.I1946I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1939					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)		CAGAGCTCCCGATTTTCAGAT	0.493000										HNSCC(10;0.0054)			11	176					0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638354	46638354	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:46638354C>T	ENST00000303383.3	-	6	975	c.709G>A	c.(709-711)Gac>Aac	p.D237N		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	237										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GGAACTCGGTCTTCAAGAATG	0.383000													10	137					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72338841	72338841	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr15:72338841G>A	ENST00000356056.5	-	2	536	c.64C>T	c.(64-66)Cct>Tct	p.P22S	MYO9A_ENST00000444904.1_Missense_Mutation_p.P22S|MYO9A_ENST00000424560.1_Missense_Mutation_p.P22S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.P22S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	22	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATAGCCCCAGGATATATCCGT	0.398000													11	198					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158262422	158262422	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:158262422C>T	ENST00000296526.7	+	12	2176	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L	GRIA2_ENST00000507898.1_Silent_p.L570L|GRIA2_ENST00000393815.2_Silent_p.L570L|GRIA2_ENST00000264426.9_Silent_p.L617L|GRIA2_ENST00000449365.1_Silent_p.L570L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	617					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTAGATCCCTCTCTGGGCGCA	0.403000													20	182					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124243864	124243864	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:124243864G>A	ENST00000276704.4	-	4	542	c.491C>T	c.(490-492)cCt>cTt	p.P164L	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.P132L|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	164							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAGTTCCAAGGATTAAAAGG	0.453000													15	205					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12626229	12626229	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr17:12626229G>A	ENST00000425538.1	+	5	519	c.319G>A	c.(319-321)Gat>Aat	p.D107N	MYOCD_ENST00000343344.4_Missense_Mutation_p.D107N|MYOCD_ENST00000395988.1_Missense_Mutation_p.D11N	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	107					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACTCGCCGATGATCTCAATGA	0.458000													25	228					0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238434337	238434337	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:238434337C>A	ENST00000264605.3	+	7	1063	c.769C>A	c.(769-771)Cat>Aat	p.H257N	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.H217N|MLPH_ENST00000445024.2_Missense_Mutation_p.H257N|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000338530.4_Missense_Mutation_p.H257N	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	257							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GTGCCACTCCCATCCGGAAGA	0.652000													5	69					5.9392e-07	6.05664e-07	1	1	0
FBXO7	25793	broad.mit.edu	37	22	32894343	32894343	+	Silent	SNP	T	T	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:32894343T>A	ENST00000266087.7	+	9	1722	c.1395T>A	c.(1393-1395)atT>atA	p.I465I	FBXO7_ENST00000397426.1_Silent_p.I351I|FBXO7_ENST00000382058.3_Silent_p.I386I	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	465					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTTCACTCATTCCTGGTCCTG	0.557000													9	134					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933772	73933772	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:73933772C>T	ENST00000476977.1	+	6	2330	c.639C>T	c.(637-639)gcC>gcT	p.A213A	GTF2IRD1_ENST00000265755.3_Silent_p.A213A|GTF2IRD1_ENST00000455841.2_Silent_p.A245A|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Silent_p.A213A			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	213						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACTCGAAGGCCCTGGTGGAGC	0.617000													8	187					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45267254	45267254	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:45267254C>T	ENST00000303230.4	-	7	1777	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	574						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGATATTCCTCCAGGACCTCG	0.423000													7	147					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35313888	35313888	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr11:35313888G>A	ENST00000278379.3	-	7	1319	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	SLC1A2_ENST00000395750.1_Missense_Mutation_p.S337F|SLC1A2_ENST00000395753.1_Missense_Mutation_p.S337F|SLC1A2_ENST00000606205.1_Missense_Mutation_p.S346F	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	346					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.S346F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGCAAAAAAGGAGAAGGGGTT	0.478000													11	293					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36214841	36214841	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:36214841C>T	ENST00000420124.1	+	8	3267	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.F1089F																							ATGATATCTTCGAGGATTCGG	0.627000													4	27					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162697226	162697226	+	Splice_Site	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr4:162697226C>T	ENST00000306100.5	-	5	846	c.409_splice	c.e5-1	p.G137_splice	FSTL5_ENST00000379164.4_Splice_Site_p.G136_splice|FSTL5_ENST00000427802.2_Splice_Site_p.G136_splice|FSTL5_ENST00000536695.1_Splice_Site_p.G136_splice	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	137						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCACTTATCTCCTGTAACAAA	0.239000													7	39					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074784	20074784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:20074784C>T	ENST00000351989.3	+	3	1249	c.820C>T	c.(820-822)Ccg>Tcg	p.P274S	DGCR8_ENST00000407755.1_Missense_Mutation_p.P274S|DGCR8_ENST00000383024.2_Missense_Mutation_p.P274S	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	274	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.			P -> L (in Ref. 3).	primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CAGCGACCATCCGTCCGATGG	0.517000													6	90					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077258	9077258	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:9077258G>A	ENST00000397910.4	-	3	10391	c.10188C>T	c.(10186-10188)acC>acT	p.T3396T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3397	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						GAATGGCTGTGGTGCTTACCC	0.438000													15	295					0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127298653	127298653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:127298653C>T	ENST00000355552.3	-	3	564	c.188G>A	c.(187-189)tGg>tAg	p.W63*	TPRA1_ENST00000489960.1_Nonsense_Mutation_p.W63*|TPRA1_ENST00000450633.2_Nonsense_Mutation_p.W63*|TPRA1_ENST00000296210.7_Nonsense_Mutation_p.W63*	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	63					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TGGAAGCTTCCAGAGCAGGAA	0.567000													4	67					0	0	1	0	0
TFEB	7942	broad.mit.edu	37	6	41653837	41653837	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:41653837G>A	ENST00000230323.4	-	9	1243	c.942C>T	c.(940-942)ctC>ctT	p.L314L	TFEB_ENST00000373033.1_Silent_p.L314L|TFEB_ENST00000403298.4_Silent_p.L314L|TFEB_ENST00000420312.1_Silent_p.L229L|TFEB_ENST00000358871.2_Silent_p.L328L	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	314	Leucine-zipper.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCTGGATACGGAGCCAGAGCT	0.542000			T	ALPHA	renal (childhood epithelioid)								5	90					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57192188	57192188	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:57192188C>T	ENST00000343433.6	-	16	1942	c.1862G>A	c.(1861-1863)gGt>gAt	p.G621D		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	621										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTCTTCAGCACCGTTTTTCTC	0.373000													6	119					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158236	139158236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:139158236C>T	ENST00000395297.1	-	15	3676	c.3506G>A	c.(3505-3507)gGa>gAa	p.G1169E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1169										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCCAGTTTTCCTCCAGGGAG	0.453000										HNSCC(54;0.14)			7	117					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5626462	5626462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr19:5626462C>T	ENST00000292123.5	+	2	343	c.236C>T	c.(235-237)tCc>tTc	p.S79F	SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000588852.1_Missense_Mutation_p.S79F|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000454510.1_Missense_Mutation_p.S79F|SAFB_ENST00000538656.1_Missense_Mutation_p.P13S|SAFB_ENST00000592224.1_Missense_Mutation_p.S79F	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	79					chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GAAATTACCTCCGAGGGAAAC	0.373000													7	91					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50954859	50954859	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr10:50954859G>A	ENST00000374103.4	-	10	1318	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	OGDHL_ENST00000419399.1_Silent_p.F354F|OGDHL_ENST00000432695.1_Silent_p.F202F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	411					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCTCAGGTGGAAGGTCTCAT	0.627000													6	61					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47170742	47170742	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:47170742C>T	ENST00000447411.1	-	12	1325	c.1119G>A	c.(1117-1119)acG>acA	p.T373T	SLC38A4_ENST00000266579.4_Silent_p.T373T	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	373					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CAAGCATCCCCGTGATGGAAA	0.403000													9	135					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117650566	117650566	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:117650566C>T	ENST00000368508.3	-	32	5490	c.5292G>A	c.(5290-5292)ggG>ggA	p.G1764G	ROS1_ENST00000368507.3_Silent_p.G1758G|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1764	Fibronectin type-III 9.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATTTTTACTCCCTTCTAGTA	0.338000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								10	134					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361229	105361229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:105361229G>A	ENST00000297581.2	+	2	498	c.449G>A	c.(448-450)tGg>tAg	p.W150*	DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.W150*|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	150					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.W150L(1)									GCAATTCAGTGGATTTATGGC	0.423000													8	141					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1808169	1808169	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr8:1808169C>T	ENST00000518288.1	+	5	535	c.372C>T	c.(370-372)ttC>ttT	p.F124F	ARHGEF10_ENST00000398560.1_Silent_p.F124F|ARHGEF10_ENST00000262112.6_Silent_p.F124F|ARHGEF10_ENST00000398564.1_Silent_p.F124F|ARHGEF10_ENST00000520359.1_Silent_p.F100F|ARHGEF10_ENST00000349830.3_Silent_p.F100F			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	124					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCACGCCATTCCAGGAGGACC	0.602000													6	115					0	0	1	0	0
YIPF1	54432	broad.mit.edu	37	1	54344378	54344378	+	Silent	SNP	C	C	T			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:54344378C>T	ENST00000072644.1	-	5	549	c.213G>A	c.(211-213)aaG>aaA	p.K71K	YIPF1_ENST00000539954.1_Silent_p.K96K|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	71						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GGGAGCTTTTCTTCTGTCCAG	0.403000													5	71					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74598189	74598189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:74598189G>A	ENST00000361874.3	-	9	1077	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	DCTN1_ENST00000409868.1_Nonsense_Mutation_p.Q237*|DCTN1_ENST00000407639.2_Nonsense_Mutation_p.Q120*|DCTN1_ENST00000409240.1_Nonsense_Mutation_p.Q217*|DCTN1_ENST00000409438.1_Nonsense_Mutation_p.Q120*|DCTN1_ENST00000394003.3_Nonsense_Mutation_p.Q247*|DCTN1_ENST00000409567.3_Nonsense_Mutation_p.Q234*	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	254					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGCTCCAGCTGGATTTTGTGT	0.542000													24	470					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6692098	6692098	+	Silent	SNP	G	G	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:6692098G>A	ENST00000309577.6	-	27	4399	c.4236C>T	c.(4234-4236)ccC>ccT	p.P1412P	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000357008.2_Silent_p.P1384P|CHD4_ENST00000544040.1_Silent_p.P1377P|CHD4_ENST00000544484.1_Silent_p.P1409P			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1384					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGGGCCTACGGGGAGCTGCAA	0.453000													12	168					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29323785	29323785	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:29323785delA	ENST00000343067.4	+	4	867	c.740delA	c.(739-741)gafs	p.E248fs	EPB41_ENST00000347529.3_Intron|EPB41_ENST00000398863.2_Frame_Shift_Del_p.E248fs|EPB41_ENST00000373798.1_Frame_Shift_Del_p.E248fs|EPB41_ENST00000373797.1_Frame_Shift_Del_p.E248fs|EPB41_ENST00000373800.3_Frame_Shift_Del_p.E39fs|EPB41_ENST00000356093.2_Frame_Shift_Del_p.E248fs|EPB41_ENST00000349460.4_Frame_Shift_Del_p.E39fs	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	248	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AATCTTTTGGAAGAAGACTAT	0.363													8	144	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													7	71	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)cafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473													7	69	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	5	---	---	---	---					
CDC25C	995	broad.mit.edu	37	5	137627761	137627761	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr5:137627761delG	ENST00000323760.6	-	8	938	c.660delC	c.(658-660)aafs	p.N220fs	CDC25C_ENST00000357274.3_Frame_Shift_Del_p.N177fs|CDC25C_ENST00000356505.3_Frame_Shift_Del_p.N190fs|CDC25C_ENST00000348983.3_Frame_Shift_Del_p.N147fs|CDC25C_ENST00000514555.1_Frame_Shift_Del_p.N190fs|CDC25C_ENST00000513970.1_Frame_Shift_Del_p.N220fs|CDC25C_ENST00000415130.2_Frame_Shift_Del_p.N147fs	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	220					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCTGTTCAAGTTCTCTGGCA	0.448													8	203	---	---	---	---					
ZNRD1-AS1	80862	broad.mit.edu	37	6	29999373	29999374	+	RNA	DEL	AG	AG	-	rs28383973		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:29999373_29999374delAG	ENST00000444051.1	-	0	108				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000437417.1_RNA	NR_103542.1																						agaaaaaaaaagagagagagag	0.332													2	4	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521843	32521844	+	RNA	DEL	CT	CT	-	rs67101368		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:32521843_32521844delCT	ENST00000411500.1	-	0	740					NR_001298.1																						AGAAGGCTACCTCCTGTAAGAA	0.356													4	7	---	---	---	---					
HDAC2	3066	broad.mit.edu	37	6	114292109	114292110	+	In_Frame_Ins	INS	-	-	CTG			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr6:114292109_114292110insCTG	ENST00000398283.2	-	1	249_250	c.245_246insCAG	c.(244-246)aag>aCAGag	p.82_82K>TE	RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000449620.2_RNA	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN	histone deacetylase 2	0	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GGCTCCTCCTCctgctgctgct	0.688													2	4	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													3	3	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119202979	119202979	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr9:119202979delA	ENST00000313400.4	-	22	3791	c.3691delT	c.(3691-3693)cgfs	p.S1231fs	ASTN2_ENST00000361477.3_Frame_Shift_Del_p.S283fs|ASTN2_ENST00000361209.2_Frame_Shift_Del_p.S1180fs|ASTN2_ENST00000341734.4_Frame_Shift_Del_p.S283fs|ASTN2_ENST00000288520.5_Frame_Shift_Del_p.S332fs|ASTN2_ENST00000373996.3_Frame_Shift_Del_p.S1227fs			O75129	ASTN2_HUMAN	astrotactin 2	1231						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AACAGCATCGAGGCTGAGACC	0.512													7	112	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546788	11546790	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:11546788_11546790delGGA	ENST00000389362.4	-	3	257_259	c.222_224delTCC	c.(220-225)cca>cc	p.PP74del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTTTCCTGGAGGAGGTGGGG	0.601													7	727	---	---	---	---					
WBP11	51729	broad.mit.edu	37	12	14946760	14946760	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:14946760delT	ENST00000261167.2	-	8	1051	c.818delA	c.(817-819)gcfs	p.D273fs	WBP11_ENST00000537574.1_Frame_Shift_Del_p.D273fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	273	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGTGTCACTGTCATCAGTACT	0.448													11	326	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr12:113704096_113704098delCTG	ENST00000550785.1	+	5	734_736	c.565_567delCTG	c.(565-567)del	p.L194del	TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.640													11	519	---	---	---	---					
PRR25	388199	broad.mit.edu	37	16	863356	863372	+	Frame_Shift_Del	DEL	GGACGCCGGACCGACAC	GGACGCCGGACCGACAC	-	rs113623365		TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr16:863356_863372delGGACGCCGGACCGACAC	ENST00000301698.1	+	3	704_720	c.704_720delGGACGCCGGACCGACAC	c.(703-720)afs	p.RTPDRH235fs		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	235										large_intestine(1)|lung(1)|skin(1)	3						GGACCGGCAAGGACGCCGGACCGACACGGCCTCCCCA	0.714													6	7	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21142795	21142795	+	RNA	DEL	T	T	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr20:21142795delT	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AAGGCATCTCTTCAGATTGGT	0.433													10	134	---	---	---	---					
MSANTD2P1	100130310	broad.mit.edu	37	21	24474481	24474482	+	RNA	INS	-	-	A			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr21:24474481_24474482insA	ENST00000421604.1	+	0	297																											gactccatctcaaaaaaaaaat	0.401													2	4	---	---	---	---					
MTMR3	8897	broad.mit.edu	37	22	30408534	30408534	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A468-01A-11D-A25Y-08	TCGA-CV-A468-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be08cb07-e3b2-474c-88a9-675ab5b4a1f6	b6bd1712-25dd-4aeb-a340-41d8f63f4fc7	g.chr22:30408534delT	ENST00000333027.3	+	13	1627	c.1299delT	c.(1297-1299)ccfs	p.P433fs	MTMR3_ENST00000323630.5_Frame_Shift_Del_p.P297fs|MTMR3_ENST00000406629.1_Frame_Shift_Del_p.P433fs|MTMR3_ENST00000401950.2_Frame_Shift_Del_p.P433fs|MTMR3_ENST00000351488.3_Frame_Shift_Del_p.P433fs|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	433	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGCTGGACCCTTATTACCGAA	0.552													20	421	---	---	---	---