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
HMGXB4	10042	broad.mit.edu	37	22	35660938	35660938	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:35660938A>G	ENST00000216106.5	+	5	685	c.557A>G	c.(556-558)gAg>gGg	p.E186G	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E77G	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	186					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCTTCGGGAGCCTGATGGT	0.463000													36	174					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88936012	88936012	+	Silent	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:88936012G>T	ENST00000556564.1	-	17	3350	c.3066C>A	c.(3064-3066)acC>acA	p.T1022T	PTPN21_ENST00000328736.3_Silent_p.T1022T	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1022	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACCTTCCATAGGTGACAGTGT	0.517000													9	55					1.76689e-08	1.93952e-08	1	1	0
ADCY8	114	broad.mit.edu	37	8	132002670	132002670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:132002670C>T	ENST00000286355.5	-	2	3171	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	ADCY8_ENST00000377928.3_Missense_Mutation_p.R360K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	360					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)			CAGGCGCAGCCTGGCCTCCAC	0.502000										HNSCC(32;0.087)			33	165					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101187376	101187376	+	RNA	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:101187376T>A	ENST00000313669.7	+	0	894				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		CGGGGCCGCCTGGTAAGAAAA	0.652000													3	9					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583519	7583519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7583519C>G	ENST00000379802.3	+	24	6365	c.6024C>G	c.(6022-6024)atC>atG	p.I2008M	DSP_ENST00000418664.2_Missense_Mutation_p.I1409M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2008	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTTCTGAAATCCAGCCATTCC	0.453000													14	96					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61391421	61391421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:61391421C>G	ENST00000370501.3	+	4	1430	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	353						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ACGCACTCTTCTACGTCAGCT	0.577000													15	232					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212490	1212490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:1212490C>T	ENST00000304460.10	+	4	610	c.554C>T	c.(553-555)aCg>aTg	p.T185M		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	185					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)			AACATCTCCACGTCCATCAGC	0.617000													18	122					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67787482	67787482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:67787482C>G	ENST00000262345.1	+	3	914	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V	IL12RB2_ENST00000371000.1_Missense_Mutation_p.L92V|IL12RB2_ENST00000541374.1_Missense_Mutation_p.L92V|IL12RB2_ENST00000544434.1_Missense_Mutation_p.L92V	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	92					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AGTCACAGGTCTTCCCCTTGG	0.423000													14	190					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													9	83					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11341183	11341183	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:11341183G>C	ENST00000315872.6	-	23	3258	c.2810C>G	c.(2809-2811)tCt>tGt	p.S937C	ROCK2_ENST00000401753.1_Missense_Mutation_p.S694C	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	937					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTCCAAATCAGAATATTGTTC	0.413000													16	143					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284113	33284113	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:33284113G>T	ENST00000431845.2	-	2	732	c.581C>A	c.(580-582)tCc>tAc	p.S194Y	ZBTB22_ENST00000418724.1_Missense_Mutation_p.S194Y	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGCCCGGCTGGAGGCATGGGA	0.622000													5	47					0.000602214	0.000621746	1	1	0
PHIP	55023	broad.mit.edu	37	6	79665371	79665371	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:79665371G>A	ENST00000275034.4	-	33	3978	c.3811C>T	c.(3811-3813)Ctt>Ttt	p.L1271F	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1271					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GAATTATAAAGTGGAATTATG	0.239000													4	38					0	0	1	0	0
NUP43	348995	broad.mit.edu	37	6	150067675	150067675	+	Missense_Mutation	SNP	A	A	G	rs10872646	by1000genomes	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:150067675A>G	ENST00000367403.3	-	1	139	c.140T>C	c.(139-141)gTa>gCa	p.V47A	NUP43_ENST00000340413.2_5'UTR|NUP43_ENST00000463048.3_Intron			Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	0					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CAAGCACAGTACGCGCCTCTC	0.552000											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	76					0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	152989924	152989924	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:152989924T>C	ENST00000263904.4	-	9	1223	c.874A>G	c.(874-876)Ata>Gta	p.I292V		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	292					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACCTCATCTATATAAACAGGC	0.318000													24	106					0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938343	116938343	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:116938343C>G	ENST00000229554.5	+	1	694	c.557C>G	c.(556-558)tCa>tGa	p.S186*	RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.S186*|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.S186*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	186					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGGAAGACTCAAACAGTGAC	0.512000									Kartagener syndrome				20	180					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112987215	112987215	+	Missense_Mutation	SNP	C	C	T	rs139434929		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:112987215C>T	ENST00000495514.1	+	5	1150	c.446C>T	c.(445-447)gCc>gTc	p.A149V	BOC_ENST00000273395.4_Missense_Mutation_p.A149V|BOC_ENST00000355385.3_Missense_Mutation_p.A149V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	149	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCAGTCATTGCCTGCCACCTG	0.572000													3	15					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110232203	110232203	+	Silent	SNP	G	G	A	rs140533102		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:110232203G>A	ENST00000418703.2	-	7	1516	c.1422C>T	c.(1420-1422)aaC>aaT	p.N474N	TRPV4_ENST00000541794.1_Silent_p.N427N|TRPV4_ENST00000261740.2_Silent_p.N474N|TRPV4_ENST00000346520.2_Silent_p.N414N|TRPV4_ENST00000544971.1_Silent_p.N367N|TRPV4_ENST00000537083.1_Silent_p.N414N|TRPV4_ENST00000536838.1_Silent_p.N440N|TRPV4_ENST00000392719.2_Silent_p.N427N	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	474					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.N474N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGAGACCACGTTGATGTAGA	0.622000													9	112					0	0	1	0	0
CCNE1	898	broad.mit.edu	37	19	30312987	30312987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:30312987G>T	ENST00000262643.3	+	9	1069	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	CCNE1_ENST00000357943.5_Nonsense_Mutation_p.E221*|CCNE1_ENST00000444983.2_Nonsense_Mutation_p.E249*	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	264					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TGACTTACATGAAGTGCTACT	0.488000			A		serous ovarian								8	142					5.18039e-06	5.52768e-06	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100493856	100493856	+	Silent	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:100493856C>A	ENST00000395996.1	+	25	3807	c.3696C>A	c.(3694-3696)atC>atA	p.I1232I	VPS13B_ENST00000358544.2_Silent_p.I1232I|VPS13B_ENST00000357162.2_Silent_p.I1232I			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1232					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAACTGATATCATGAATAAGG	0.393000													38	301					3.61848e-18	4.1385e-18	1	1	0
PDCD4	27250	broad.mit.edu	37	10	112641196	112641196	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:112641196C>T	ENST00000393104.2	+	4	576	c.216C>T	c.(214-216)gaC>gaT	p.D72D	PDCD4_ENST00000280154.7_Silent_p.D83D	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	83					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GTGGGAGTGACGCCCTTAGAA	0.502000													22	88					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105503225	105503225	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:105503225C>T	ENST00000276654.5	-	7	2364	c.2256G>A	c.(2254-2256)caG>caA	p.Q752Q	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Silent_p.Q733Q	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	752					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GACTCTGGTTCTGACTTAGGG	0.443000													17	107					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	40990715	40990715	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chrX:40990715G>T	ENST00000324545.7	+	4	881	c.248G>T	c.(247-249)cGa>cTa	p.R83L	USP9X_ENST00000378308.2_Missense_Mutation_p.R83L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	83					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						TTTAGGCCTCGATGGGTGGTT	0.343000													23	43					1.64293e-13	1.85681e-13	1	1	0
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTCTCCCAGGACAGGCACAA	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)			13	31					0	0	1	0	0
FKBP14	55033	broad.mit.edu	37	7	30065984	30065984	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:30065984C>G	ENST00000222803.5	-	1	316	c.141G>C	c.(139-141)ttG>ttC	p.L47F		NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	47	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						GGACCAACATCAAATCCCCTC	0.428000													19	129					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35802715	35802715	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:35802715A>G	ENST00000394395.2	+	7	666	c.493A>G	c.(493-495)Atg>Gtg	p.M165V	TADA2A_ENST00000225396.6_Missense_Mutation_p.M165V|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000417170.1_Missense_Mutation_p.M165V|TADA2A_ENST00000586023.1_Missense_Mutation_p.M165V	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	165					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						TTCTCGGGACATGGCCGGGTA	0.418000													4	53					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44222466	44222466	+	Missense_Mutation	SNP	C	C	G	rs150122797		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:44222466C>G	ENST00000393812.3	-	4	1419	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	SLC35B2_ENST00000537814.1_Missense_Mutation_p.E293Q|SLC35B2_ENST00000538577.1_Missense_Mutation_p.E333Q|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	426					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGGAGACTCAACAGGCACA	0.602000													10	134					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502196	20502196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:20502196G>A	ENST00000315693.2	-	1	723	c.722C>T	c.(721-723)tCa>tTa	p.S241L		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GATGTGAGCTGAGAGAGTGGA	0.458000													26	64					0	0	1	0	0
OLR1	4973	broad.mit.edu	37	12	10319441	10319441	+	Silent	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:10319441T>A	ENST00000309539.3	-	3	354	c.294A>T	c.(292-294)tcA>tcT	p.S98S	OLR1_ENST00000432556.2_Silent_p.S98S|OLR1_ENST00000544577.1_Silent_p.S98S|OLR1_ENST00000543993.1_5'UTR|OLR1_ENST00000545927.1_Silent_p.S98S	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	98	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GTTCGTTTTCTGACTCCTGTG	0.453000													10	157					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18066632	18066632	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:18066632C>T	ENST00000205890.5	+	59	10025	c.9687C>T	c.(9685-9687)tgC>tgT	p.C3229C	MYO15A_ENST00000451725.2_Silent_p.C121C|MYO15A_ENST00000418233.3_Silent_p.C493C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3229	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAAAACATGCACTGTAAGTG	0.552000													9	88					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123887153	123887153	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:123887153A>G	ENST00000320891.4	+	1	872	c.872A>G	c.(871-873)aAc>aGc	p.N291S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACCCTGAGAAACAAGGAGGTG	0.433000													16	89					0	0	1	0	0
SSR3	6747	broad.mit.edu	37	3	156272786	156272786	+	Silent	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:156272786G>C	ENST00000265044.2	-	1	187	c.93C>G	c.(91-93)ctC>ctG	p.L31L	SSR3_ENST00000476217.1_Silent_p.L31L|SSR3_ENST00000467789.1_Silent_p.L31L	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	31					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCCGAAGAAGAGCGCGGAGG	0.637000													3	30					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131678540	131678540	+	Missense_Mutation	SNP	G	G	A	rs146661687		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr9:131678540G>A	ENST00000259324.5	+	4	2846	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	LRRC8A_ENST00000372600.4_Missense_Mutation_p.E775K|LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372599.3_Missense_Mutation_p.E775K	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	775					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GGAGCTGGGCGAGTGCCCACT	0.662000													8	41					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055487	72055487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:72055487C>T	ENST00000555818.1	+	2	1246	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R300C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R300C	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	300					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.R300C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCGTAAATTGCGCAATGCCAA	0.443000													8	99					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55144993	55144993	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:55144993G>C	ENST00000414150.2	+	12	2385	c.2107G>C	c.(2107-2109)Gaa>Caa	p.E703Q	MROH7_ENST00000409996.1_Missense_Mutation_p.E271Q|MROH7_ENST00000421030.2_Missense_Mutation_p.E703Q|MROH7_ENST00000395690.2_Missense_Mutation_p.E703Q|MROH7_ENST00000339553.5_Missense_Mutation_p.E703Q|MROH7_ENST00000545244.1_Missense_Mutation_p.E271Q|MROH7_ENST00000454855.2_Missense_Mutation_p.E221Q					maestro heat-like repeat family member 7																		GGCCGCCCTGGAAGGGCTGAA	0.592000													40	115					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75612939	75612939	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:75612939C>T	ENST00000394893.1	+	9	952	c.932C>T	c.(931-933)tCg>tTg	p.S311L	POR_ENST00000439269.1_Missense_Mutation_p.S49L|POR_ENST00000419840.1_Missense_Mutation_p.S125L|POR_ENST00000461988.1_Missense_Mutation_p.S311L|POR_ENST00000450476.1_Missense_Mutation_p.S210L|POR_ENST00000545601.1_Missense_Mutation_p.S119L			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	308	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TTGGACATCTCGGACTCCAAA	0.622000													14	96					0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90030604	90030604	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:90030604G>C	ENST00000563594.1	+	11	2026	c.1029G>C	c.(1027-1029)gaG>gaC	p.E343D	DEF8_ENST00000569453.1_Missense_Mutation_p.E343D|DEF8_ENST00000268676.7_Missense_Mutation_p.E404D|DEF8_ENST00000567874.1_Missense_Mutation_p.E283D|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Missense_Mutation_p.E333D	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	404					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		ATTTTGTGGAGAACGACGAGA	0.657000													5	52					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914545	46914545	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:46914545C>G	ENST00000307522.3	-	1	2296	c.1523G>C	c.(1522-1524)aGa>aCa	p.R508T		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	508						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)		CCTGGGGACTCTCTTGGGCAG	0.622000													9	76					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72368688	72368688	+	Silent	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:72368688G>A	ENST00000335666.4	+	4	1386	c.1338G>A	c.(1336-1338)gcG>gcA	p.A446A		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	446						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGGGCATGGCGGCGAAGCCTG	0.617000													4	41					0	0	1	0	0
SNRNP27	11017	broad.mit.edu	37	2	70131458	70131458	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:70131458G>C	ENST00000409116.1	+	5	447	c.421G>C	c.(421-423)Gat>Cat	p.D141H	SNRNP27_ENST00000244227.3_3'UTR			Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	0					mRNA processing|RNA splicing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AGTGTTGAAGGATGATTTTTT	0.348000													7	64					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	32					0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56848316	56848316	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:56848316G>T	ENST00000257979.4	-	1	110	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	28					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GAGGACCCCAGCCCAAAGAAG	0.587000													9	107					0.00448238	0.00460288	1	1	0
LTBP3	4054	broad.mit.edu	37	11	65314018	65314018	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:65314018C>A	ENST00000301873.5	-	16	2516	c.2248G>T	c.(2248-2250)Gag>Tag	p.E750*	LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Nonsense_Mutation_p.E750*|LTBP3_ENST00000536982.1_Nonsense_Mutation_p.E376*|LTBP3_ENST00000532932.1_Nonsense_Mutation_p.E180*	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	750	Cys-rich.|EGF-like 6; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GGGCTGCCCTCGGCGCACTCG	0.726000													4	8					3.59834e-05	3.77628e-05	1	1	0
OR4X2	119764	broad.mit.edu	37	11	48266856	48266856	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:48266856C>T	ENST00000302329.3	+	1	249	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTACTCCTCCGCTACAGCCC	0.502000													19	120					0	0	1	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													4	60					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109766982	109766982	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:109766982C>T	ENST00000368952.4	-	20	3012	c.2722G>A	c.(2722-2724)Gtg>Atg	p.V908M	MICAL1_ENST00000358807.3_Missense_Mutation_p.V889M|MICAL1_ENST00000358577.3_Missense_Mutation_p.V803M			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	889					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ACCTGTTCCACATCTGAGTCC	0.522000													3	12					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38349184	38349184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:38349184G>A	ENST00000273173.4	+	3	839	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	SLC22A14_ENST00000448498.1_Missense_Mutation_p.G250S	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	250						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GTCAGTGGTGGGCTACGCCAT	0.577000													34	100					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74350051	74350051	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:74350051G>C	ENST00000226355.3	+	3	307	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	72	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGACATGGTAGAATACAAAGA	0.388000													14	94					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84350691	84350691	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:84350691C>T	ENST00000295488.3	-	12	2666	c.2504G>A	c.(2503-2505)cGt>cAt	p.R835H	HELQ_ENST00000510985.1_Missense_Mutation_p.R768H	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	835							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AAATGAAGCACGTCCCAACTT	0.313000								Other identified genes with known or suspected DNA repair function					7	68					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8720391	8720391	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr18:8720391A>T	ENST00000359865.3	+	4	396	c.254A>T	c.(253-255)aAg>aTg	p.K85M	SOGA2_ENST00000400050.3_Missense_Mutation_p.K85M|SOGA2_ENST00000517570.1_Missense_Mutation_p.K85M|SOGA2_ENST00000306329.11_Missense_Mutation_p.K445M|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	436																	GTGGAGGAAAAGCGCGCTAAA	0.463000													17	72					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1775232	1775232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:1775232G>A	ENST00000236671.2	-	7	1096	c.964C>T	c.(964-966)Cag>Tag	p.Q322*	RP11-295K3.1_ENST00000427721.1_Silent_p.F192F	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	322					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCTCGCCCTGAATCAGCGGC	0.692000													5	17					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246608	164246608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:164246608G>C	ENST00000296533.2	-	3	1533	c.1002C>G	c.(1000-1002)ttC>ttG	p.F334L	NPY1R_ENST00000509586.1_Missense_Mutation_p.F91L	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	334					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAAAGTTGAAGAAGAACTGCA	0.418000													24	128					0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7343015	7343015	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:7343015C>T	ENST00000266563.5	+	2	225	c.42C>T	c.(40-42)gcC>gcT	p.A14A	PEX5_ENST00000412720.2_Silent_p.A35A|PEX5_ENST00000434354.2_Silent_p.A14A|PEX5_ENST00000455147.2_Silent_p.A14A|PEX5_ENST00000266564.3_Silent_p.A14A|PEX5_ENST00000420616.2_Silent_p.A14A|PEX5_ENST00000545220.1_Intron	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	14					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GCGGGGGTGCCAACCCGCTCA	0.667000													21	83					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941241	13941241	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:13941241T>G	ENST00000254323.2	+	13	2536	c.2347T>G	c.(2347-2349)Tcg>Gcg	p.S783A	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.S617A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	783							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GAAGAACCACTCGGCCTTCGA	0.697000													14	144					0	0	1	0	0
SOX12	6666	broad.mit.edu	37	20	307440	307440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:307440G>A	ENST00000342665.2	+	1	1202	c.872G>A	c.(871-873)tGc>tAc	p.C291Y	SOX12_ENST00000544632.1_Missense_Mutation_p.C291Y|RP5-1103G7.4_ENST00000442637.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	291					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCGGACTACTGCACCCCCGAG	0.701000													12	37					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412326	139412326	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr9:139412326C>A	ENST00000277541.6	-	8	1394	c.1319G>T	c.(1318-1320)tGt>tTt	p.C440F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	440	EGF-like 11; calcium-binding (Potential).				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)		GCCCTGCAGACACTGGCACTC	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			25	53					3.28513e-13	3.66935e-13	1	1	0
ATAD5	79915	broad.mit.edu	37	17	29220393	29220393	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:29220393T>C	ENST00000321990.4	+	21	4900	c.4522T>C	c.(4522-4524)Tat>Cat	p.Y1508H		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1508					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGATTTTTTATATAGTAATCT	0.353000													32	135					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854219	40854219	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:40854219C>A	ENST00000254691.5	+	3	2984	c.2785C>A	c.(2785-2787)Ctc>Atc	p.L929I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	929					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAATCCAGCTCTCCAAATAGG	0.507000													37	154					2.09667e-21	2.42705e-21	1	1	0
PPP2R5D	5528	broad.mit.edu	37	6	42975736	42975736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:42975736C>T	ENST00000485511.1	+	7	969	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R256C|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R232C|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R158C	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	264					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CATTTTGCATCGCATCTATGG	0.537000													14	152					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27999102	27999102	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:27999102C>T	ENST00000269033.3	-	8	730	c.579G>A	c.(577-579)gcG>gcA	p.A193A	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.A220A	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	193					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTAGTTATGCGCTCTGGCGA	0.473000													16	75					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													4	14					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1432607	1432607	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:1432607C>A	ENST00000270349.9	-	4	752	c.625G>T	c.(625-627)Ggg>Tgg	p.G209W	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G209W	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	209					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGTGTGGTCCCAAAAGTGTCG	0.612000													12	36					5.16669e-11	5.73742e-11	1	1	0
NFATC2IP	84901	broad.mit.edu	37	16	28967619	28967619	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:28967619C>T	ENST00000320805.4	+	5	882	c.807C>T	c.(805-807)atC>atT	p.I269I	NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	269						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CACTCAAAATCCGTTGCCGGG	0.607000													4	48					0	0	1	0	0
GGCT	79017	broad.mit.edu	37	7	30538508	30538508	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:30538508C>G	ENST00000275428.4	-	3	468	c.334G>C	c.(334-336)Gtt>Ctt	p.V112L	GGCT_ENST00000005374.6_Intron|GGCT_ENST00000598361.1_Missense_Mutation_p.V27L|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409436.1_Missense_Mutation_p.V112L	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	112					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						TGAGTTGCAACTTTAACTTCT	0.373000													8	100					0	0	1	0	0
BTC	685	broad.mit.edu	37	4	75673268	75673268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:75673268C>T	ENST00000395743.3	-	5	880	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	174					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			ATATTTGTCTCTTCAATATCT	0.338000													9	58					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74734467	74734467	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:74734467C>T	ENST00000588460.1	+	1	2075	c.33C>T	c.(31-33)atC>atT	p.I11I	MFSD11_ENST00000593181.1_Silent_p.I11I|MFSD11_ENST00000591864.1_Silent_p.I11I|RP11-318A15.7_ENST00000587459.1_3'UTR|MFSD11_ENST00000590514.1_Silent_p.I11I|MFSD11_ENST00000590393.1_Silent_p.I11I|MFSD11_ENST00000586622.1_Silent_p.I11I|MFSD11_ENST00000355954.3_Silent_p.I11I|MFSD11_ENST00000336509.4_Silent_p.I11I	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	11						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTTTCAACATCATTATTTTAG	0.502000													8	44					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64032844	64032844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:64032844C>T	ENST00000540288.1	+	25	3008	c.2905C>T	c.(2905-2907)Cgg>Tgg	p.R969W	PLCB3_ENST00000325234.5_Missense_Mutation_p.R902W|PLCB3_ENST00000279230.6_Missense_Mutation_p.R969W	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	969					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCTCCGGAGCCGGCAAGAGCG	0.692000													3	23					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100796680	100796680	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:100796680C>T	ENST00000358544.2	+	43	8103	c.7992C>T	c.(7990-7992)agC>agT	p.S2664S	VPS13B_ENST00000357162.2_Silent_p.S2639S|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2664					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACCAGTACAGCTGGCGCTCTC	0.473000													34	133					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345320	20345320	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:20345320G>T	ENST00000298642.2	+	1	930	c.894G>T	c.(892-894)atG>atT	p.M298I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATAGCCATGAGGAAACTGA	0.343000													15	107					1.3612e-06	1.46887e-06	1	1	0
BEST2	54831	broad.mit.edu	37	19	12866735	12866735	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:12866735G>A	ENST00000549706.1	+	8	1258	c.934G>A	c.(934-936)Gat>Aat	p.D312N	BEST2_ENST00000042931.1_Missense_Mutation_p.D312N|BEST2_ENST00000553030.1_Missense_Mutation_p.D312N			Q8NFU1	BEST2_HUMAN	bestrophin 2	312					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CTTTCTGATCGATAGAAACTT	0.542000													4	70					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159433849	159433849	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:159433849G>C	ENST00000389757.3	+	3	324	c.199G>C	c.(199-201)Gaa>Caa	p.E67Q	PKP4_ENST00000389759.3_Missense_Mutation_p.E67Q	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	67					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAGTCAGCTAGAAAGATGTAG	0.478000										HNSCC(62;0.18)			6	33					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127339922	127339922	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:127339922G>T	ENST00000265056.7	+	15	2699	c.2455G>T	c.(2455-2457)Gcc>Tcc	p.A819S	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	819					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|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GCAGACTTTTGCCCGCTACCT	0.547000													18	194					3.41278e-10	3.76787e-10	1	1	0
PRSS22	64063	broad.mit.edu	37	16	2903246	2903246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:2903246C>T	ENST00000161006.3	-	6	867	c.802G>A	c.(802-804)Gag>Aag	p.E268K	PRSS22_ENST00000571228.1_Missense_Mutation_p.E158K	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	268	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CTGTTGCGCTCGGCACAGCCC	0.721000													6	38					0	0	1	0	0
SSR2	6746	broad.mit.edu	37	1	155989899	155989899	+	Silent	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:155989899T>A	ENST00000295702.4	-	2	131	c.60A>T	c.(58-60)ggA>ggT	p.G20G	SSR2_ENST00000480567.1_Silent_p.G20G|SSR2_ENST00000496742.1_Silent_p.G20G|SSR2_ENST00000529008.1_Silent_p.G20G	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	20					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAAGCCTGGCTCCTTCCTCTG	0.468000													17	60					0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56961080	56961080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:56961080G>A	ENST00000559237.1	-	13	2130	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	ZNF280D_ENST00000396245.1_Nonsense_Mutation_p.Q200*|ZNF280D_ENST00000559000.1_Nonsense_Mutation_p.Q483*|ZNF280D_ENST00000267807.7_Nonsense_Mutation_p.Q496*	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CGATGGTGTTGAGTCTTATGA	0.313000													11	87					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48560992	48560992	+	Silent	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:48560992C>G	ENST00000232375.3	-	12	1375	c.1263G>C	c.(1261-1263)ctG>ctC	p.L421L	PFKFB4_ENST00000383734.2_Silent_p.L386L|PFKFB4_ENST00000416568.1_Silent_p.L414L|PFKFB4_ENST00000541519.1_Silent_p.L387L|PFKFB4_ENST00000536104.1_Silent_p.L410L|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	421	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GAGTCAGCTTCAGGACTGTGT	0.522000													10	69					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47646751	47646751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:47646751C>T	ENST00000398742.2	+	3	197	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	GPR111_ENST00000507065.1_Nonsense_Mutation_p.Q50*|GPR111_ENST00000296862.1_Nonsense_Mutation_p.Q118*			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	118					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGACTACTCCCAGTGTACTCA	0.512000													17	81					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023178	31023178	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:31023178A>G	ENST00000375687.4	+	13	3087	c.2663A>G	c.(2662-2664)aAg>aGg	p.K888R	ASXL1_ENST00000306058.5_Missense_Mutation_p.K883R	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	888					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TTGAAAACCAAGGCTCTCGTT	0.448000			"""F, N, Mis"""		"""MDS, CMML"""								34	162					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29913096	29913096	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:29913096A>G	ENST00000490103.1	-	17	1725	c.1603T>C	c.(1603-1605)Ttc>Ctc	p.F535L	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.F535L|THOC5_ENST00000397872.1_Missense_Mutation_p.F535L|THOC5_ENST00000397873.2_Missense_Mutation_p.F535L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	535					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTTTGGTGAAGTGCAGCTCC	0.537000													10	78					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159655365	159655365	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:159655365G>T	ENST00000297267.9	+	11	4021	c.3821G>T	c.(3820-3822)gGc>gTc	p.G1274V	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1211V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1274						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCGTCGCGGGCACCCACCCC	0.706000													3	21					0.115264	0.115871	1	1	0
UBA52	7311	broad.mit.edu	37	19	18684147	18684147	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:18684147A>G	ENST00000442744.2	+	2	95	c.37A>G	c.(37-39)Atc>Gtc	p.I13V	UBA52_ENST00000598780.1_Missense_Mutation_p.I13V|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000599551.1_Missense_Mutation_p.I13V|UBA52_ENST00000599595.1_Missense_Mutation_p.I13V|UBA52_ENST00000596304.1_Missense_Mutation_p.I13V|UBA52_ENST00000596273.1_Missense_Mutation_p.I13V|UBA52_ENST00000430157.2_Missense_Mutation_p.I13V|UBA52_ENST00000595158.1_Missense_Mutation_p.I13V|UBA52_ENST00000595683.1_Missense_Mutation_p.I13V|UBA52_ENST00000597451.1_Missense_Mutation_p.I13V	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	13	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						TGGCAAAACCATCACCCTTGA	0.537000													7	47					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257103	16257103	+	Silent	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:16257103A>G	ENST00000375759.3	+	11	4572	c.4368A>G	c.(4366-4368)tcA>tcG	p.S1456S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1456					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCTCTCTTCATCTCGTGAAG	0.368000													13	114					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581448	7581448	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7581448C>T	ENST00000379802.3	+	23	5366	c.5025C>T	c.(5023-5025)gtC>gtT	p.V1675V	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1675	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGAAAGTGTCAAACAAGCTC	0.493000													13	145					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62939604	62939604	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:62939604G>A	ENST00000561311.1	+	3	325	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	TLN2_ENST00000306829.6_Missense_Mutation_p.R32Q			Q9Y4G6	TLN2_HUMAN	talin 2	32					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GATGCGTGTCGAGTCATTCGG	0.473000													15	175					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200245204	200245204	+	Silent	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:200245204T>A	ENST00000443023.1	-	4	1768	c.303A>T	c.(301-303)tcA>tcT	p.S101S	SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000260926.5_Silent_p.S160S|SATB2_ENST00000457245.1_Silent_p.S160S|SATB2_ENST00000417098.1_Silent_p.S160S|SATB2_ENST00000428695.1_Intron			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	160						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCCAACTTTGAACAACTGC	0.483000													8	84					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21747407	21747407	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:21747407C>G	ENST00000328843.6	+	41	6689	c.6658C>G	c.(6658-6660)Ctc>Gtc	p.L2220V	DNAH11_ENST00000409508.3_Missense_Mutation_p.L2213V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2220	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACAGATGAACTCTTTGGTTT	0.393000									Kartagener syndrome				4	38					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29627077	29627077	+	Silent	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:29627077G>T	ENST00000334018.6	+	6	722	c.534G>T	c.(532-534)ccG>ccT	p.P178P	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404820.3_Silent_p.P178P|EMID1_ENST00000404755.3_Silent_p.P178P	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	176						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						ACCCTGCCCCGCTCTGGGGTC	0.637000													9	85					1.58986e-06	1.70598e-06	1	1	0
SERPINA4	5267	broad.mit.edu	37	14	95030432	95030432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:95030432G>A	ENST00000557004.1	+	2	1034	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	SERPINA4_ENST00000555095.1_Missense_Mutation_p.V205I|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.V205I			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	205					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.V205F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CAAGAAGGACGTCTTGATGGT	0.458000													15	209					0	0	1	0	0
ID2	3398	broad.mit.edu	37	2	8822625	8822625	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:8822625C>T	ENST00000234091.4	+	3	1190	c.330C>T	c.(328-330)atC>atT	p.I110I	ID2_ENST00000396290.1_Silent_p.I110I|ID2_ENST00000331129.3_Silent_p.I110I			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	110					cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACACGGATATCAGCATCCTGT	0.652000													5	67					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915167	46915167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:46915167C>T	ENST00000307522.3	-	1	1674	c.901G>A	c.(901-903)Gat>Aat	p.D301N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	301						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)		CTTTGACTATCTGCAGCCTCT	0.627000													12	186					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7566626	7566626	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7566626T>C	ENST00000379802.3	+	8	1297	c.956T>C	c.(955-957)cTg>cCg	p.L319P	DSP_ENST00000418664.2_Missense_Mutation_p.L319P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	319	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGAGTCAACTGGAAGTTAAA	0.378000													15	59					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966576	41966576	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:41966576G>C	ENST00000298919.7	+	10	1603	c.1215G>C	c.(1213-1215)gaG>gaC	p.E405D	PDZRN4_ENST00000402685.2_Missense_Mutation_p.E665D|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E407D			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	665	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGGAGCATGAGCTACAGTTGC	0.443000													10	87					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38824021	38824021	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:38824021C>T	ENST00000303592.3	-	2	375	c.117G>A	c.(115-117)tcG>tcA	p.S39S		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	39					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGTAGCGCTGCGACTTGTTGC	0.612000													55	282					0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44202113	44202113	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:44202113C>T	ENST00000417257.1	-	5	570	c.394G>A	c.(394-396)Gat>Aat	p.D132N	FRMD5_ENST00000484674.1_Missense_Mutation_p.D43N|FRMD5_ENST00000402883.1_Missense_Mutation_p.D132N	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	132	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AAGGCAGCATCCGATGTTTTA	0.388000											OREG0003950	type=REGULATORY REGION|Gene=FRMD5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	53					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145913005	145913005	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:145913005G>A	ENST00000354952.2	-	8	1091	c.851C>T	c.(850-852)tCa>tTa	p.S284L	PLSCR4_ENST00000446574.2_Missense_Mutation_p.S284L|PLSCR4_ENST00000383083.2_Missense_Mutation_p.S194L|PLSCR4_ENST00000493382.1_Missense_Mutation_p.S284L|PLSCR4_ENST00000433593.2_Missense_Mutation_p.S179L	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	284					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TGCCATTGCTGATAACAAACC	0.423000													21	111					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71783838	71783838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:71783838G>A	ENST00000299980.4	-	15	1897	c.1456C>T	c.(1456-1458)Ctt>Ttt	p.L486F	AP1G1_ENST00000393512.3_Missense_Mutation_p.L489F|AP1G1_ENST00000569748.1_Missense_Mutation_p.L486F|AP1G1_ENST00000423132.2_Missense_Mutation_p.L489F|AP1G1_ENST00000433195.2_Missense_Mutation_p.L509F	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	486					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GATACAAGAAGATCACCATAT	0.408000													38	269					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75171237	75171237	+	Splice_Site	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:75171237C>T	ENST00000336926.6	-	29	2979		c.e29+1		HIP1_ENST00000434438.2_Splice_Site	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1						activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGAGCTCTCACCTGAGAATCC	0.443000			T	PDGFRB	CMML								14	94					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2236796	2236796	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:2236796C>A	ENST00000343516.6	-	10	1052	c.960G>T	c.(958-960)tgG>tgT	p.W320C		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	320	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGCAGCCCTTCCACCGGCCAT	0.662000													11	52					0.010729	0.0109002	1	1	0
SPON1	10418	broad.mit.edu	37	11	14277228	14277228	+	RNA	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:14277228C>A	ENST00000310358.7	+	0	1663							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGGAGAAAATCCGGCCCCTGA	0.488000													19	114					7.21436e-19	8.30086e-19	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95539335	95539335	+	Silent	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:95539335G>A	ENST00000297591.5	-	8	1212	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	KIAA1429_ENST00000437199.1_Silent_p.I379I|KIAA1429_ENST00000421249.2_Silent_p.I379I	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	379					mRNA processing|RNA splicing	nucleus		p.I379I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTGAGGCTTCGATTGCCCCTG	0.343000													9	260					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68527764	68527764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:68527764G>A	ENST00000265641.5	-	17	2225	c.2071C>T	c.(2071-2073)Cag>Tag	p.Q691*	CPT1A_ENST00000376618.2_Nonsense_Mutation_p.Q691*|CPT1A_ENST00000540367.1_Nonsense_Mutation_p.Q691*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.Q691*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	691					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ACTTGCTGCTGAGGGGTCTGG	0.552000													4	49					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160990822	160990822	+	Silent	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:160990822G>C	ENST00000368026.6	-	1	316	c.42C>G	c.(40-42)ctC>ctG	p.L14L	F11R_ENST00000537746.1_Silent_p.L14L|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	14					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CCAATATGAAGAGGCACAACA	0.587000													9	35					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10622312	10622312	+	Silent	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:10622312G>A	ENST00000254958.5	-	23	3227	c.2712C>T	c.(2710-2712)ctC>ctT	p.L904L	JAG1_ENST00000423891.2_Silent_p.L745L	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	904					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCCCTTTGTGGAGCAGGCAAG	0.612000									Alagille Syndrome				15	66					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21723498	21723498	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:21723498T>C	ENST00000328843.6	+	33	5609	c.5578T>C	c.(5578-5580)Ttc>Ctc	p.F1860L	DNAH11_ENST00000409508.3_Missense_Mutation_p.F1853L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1860	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGATGCCCAGTTCCAGTACTT	0.433000									Kartagener syndrome				14	172					0	0	1	0	0
CXCL14	9547	broad.mit.edu	37	5	134910294	134910294	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:134910294G>C	ENST00000337225.5	-	3	752	c.288C>G	c.(286-288)atC>atG	p.I96M	CTC-321K16.1_ENST00000509372.1_RNA|CXCL14_ENST00000512158.1_Missense_Mutation_p.I84M	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	96					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTACCACTTGATGAAGCGCT	0.602000													4	48					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20885141	20885141	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr9:20885141A>G	ENST00000380249.1	+	23	2901	c.2537A>G	c.(2536-2538)tAt>tGt	p.Y846C	FOCAD_ENST00000338382.6_Missense_Mutation_p.Y846C|FOCAD_ENST00000605086.1_Missense_Mutation_p.Y282C	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	846						integral to membrane	binding										GTTTCCATGTATCAGAGTAAA	0.338000													16	55					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639390	6639390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:6639390G>A	ENST00000333172.6	+	6	2465	c.2272G>A	c.(2272-2274)Gag>Aag	p.E758K	TAS1R1_ENST00000351136.3_Missense_Mutation_p.E504K|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	758					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAACTACAACGAGGCCAAATG	0.572000													22	63					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94007049	94007049	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:94007049G>A	ENST00000553484.1	+	13	1550	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	UNC79_ENST00000256339.4_Missense_Mutation_p.E289K|UNC79_ENST00000555664.1_Missense_Mutation_p.E466K|UNC79_ENST00000393151.2_Missense_Mutation_p.E466K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	466						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCGAGAACATGAGCTGAACCG	0.483000													10	95					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62850283	62850283	+	Silent	SNP	C	C	T	rs61747595	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:62850283C>T	ENST00000536311.1	+	12	2311	c.1947C>T	c.(1945-1947)gaC>gaT	p.D649D	MYT1_ENST00000328439.1_Silent_p.D622D|MYT1_ENST00000360149.4_Silent_p.D324D			Q01538	MYT1_HUMAN	myelin transcription factor 1	622					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)					ACTCGCAGGACGCCGAGGCTG	0.597000													5	122					0	0	1	0	0
ADRA1B	147	broad.mit.edu	37	5	159343986	159343986	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:159343986T>G	ENST00000306675.3	+	1	197	c.74T>G	c.(73-75)tTc>tGc	p.F25C		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	25					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	AATGCCAACTTCACTGGCCCC	0.597000													5	64					0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63871704	63871704	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:63871704C>T	ENST00000334025.2	+	3	762	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	146					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CATATGTCTGCTGGGGTCTCT	0.418000													6	93					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744353	81744353	+	Silent	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:81744353G>T	ENST00000555447.1	-	6	1714	c.1302C>A	c.(1300-1302)atC>atA	p.I434I	STON2_ENST00000267540.2_Silent_p.I434I	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	434	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCTTCTCAGGGATCCTCAACA	0.537000													16	238					0.000308642	0.000320384	1	1	0
TTC33	23548	broad.mit.edu	37	5	40716521	40716521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:40716521C>T	ENST00000337702.4	-	5	667	c.515G>A	c.(514-516)aGa>aAa	p.R172K	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	172							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CTGGAGCGTTCTTGCCCAAGA	0.423000													11	150					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378702	114378702	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:114378702C>G	ENST00000312719.5	-	5	1948	c.760G>C	c.(760-762)Gat>Cat	p.D254H	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.D254H|RP3-399L15.3_ENST00000519270.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	254					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGATCTCCATCGACGACATGA	0.418000													8	158					0	0	1	0	0
KCTD13	253980	broad.mit.edu	37	16	29937220	29937220	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:29937220C>T	ENST00000568000.1	-	1	1136	c.135G>A	c.(133-135)ctG>ctA	p.L45L	KCTD13_ENST00000568721.1_5'UTR|KCTD13_ENST00000561540.1_Silent_p.L45L	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	45	BTB.				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CGCCCACGTTCAGCTTCACGT	0.672000													7	54					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113659993	113659993	+	RNA	SNP	A	A	C	rs906846	by1000genomes	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:113659993A>C	ENST00000393544.2	+	0	41																											GGCAGCATGTAGGTTGCAGGG	0.657000													4	21					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38957791	38957791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:38957791C>T	ENST00000357387.3	-	25	2492	c.2462G>A	c.(2461-2463)aGa>aAa	p.R821K	RICTOR_ENST00000296782.5_Missense_Mutation_p.R821K|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	821					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TACATAACCTCTTTCATTCAG	0.308000													12	93					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244681992	244681992	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:244681992G>C	ENST00000366534.4	+	8	582	c.528G>C	c.(526-528)atG>atC	p.M176I	C1orf101_ENST00000366533.4_Missense_Mutation_p.M176I|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366531.3_Missense_Mutation_p.M25I	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	176						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATGAGAAAATGAGAAGGGGGt	0.299000													10	62					0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24219248	24219248	+	Silent	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:24219248G>A	ENST00000345044.6	+	5	694	c.426G>A	c.(424-426)caG>caA	p.Q142Q	SLC2A11_ENST00000405847.1_Silent_p.Q142Q|SLC2A11_ENST00000316185.8_Silent_p.Q145Q|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Silent_p.Q107Q|SLC2A11_ENST00000398356.2_Silent_p.Q149Q			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	142						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						TGAACATCCAGCCCATGTACC	0.642000													12	76					0	0	1	0	0
DCK	1633	broad.mit.edu	37	4	71892453	71892453	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:71892453A>T	ENST00000286648.5	+	6	1134	c.737A>T	c.(736-738)tAt>tTt	p.Y246F	DCK_ENST00000504730.1_3'UTR|DCK_ENST00000504952.1_Missense_Mutation_p.Y246F	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	246					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AAAGACAAATATGAAAGTCTG	0.294000													10	50					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196796099	196796099	+	Silent	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:196796099C>A	ENST00000320493.5	+	3	482	c.394C>A	c.(394-396)Cgg>Agg	p.R132R	CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Silent_p.R132R	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	132	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ATGTGTAGAACGGGGCTGGTC	0.393000													19	78					3.32936e-07	3.61311e-07	1	1	0
DSP	1832	broad.mit.edu	37	6	7585993	7585993	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7585993C>A	ENST00000379802.3	+	24	8839	c.8498C>A	c.(8497-8499)tCt>tAt	p.S2833Y	DSP_ENST00000418664.2_Missense_Mutation_p.S2234Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2833	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		cgctcgggatctcgctccgga	0.617000													10	121					2.17888e-05	2.31203e-05	1	1	0
RET	5979	broad.mit.edu	37	10	43612115	43612115	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:43612115G>T	ENST00000355710.3	+	12	2452	c.2220G>T	c.(2218-2220)aaG>aaT	p.K740N	RET_ENST00000340058.5_Missense_Mutation_p.K740N	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	740	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AAGTGGTCAAGGCAACGGCCT	0.532000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				32	174					8.16721e-17	9.28534e-17	1	1	0
SIRPB1	10326	broad.mit.edu	37	20	1558986	1558986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:1558986C>T	ENST00000381605.4	-	2	495	c.431G>A	c.(430-432)cGc>cAc	p.R144H	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144H|SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143H|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144H	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTACTCACCGCGCACAGACAG	0.552000													24	131					0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64891448	64891448	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:64891448G>C	ENST00000331710.5	+	19	2319	c.1980G>C	c.(1978-1980)caG>caC	p.Q660H		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	660					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CTCTGCCTCAGAAAATGTTTA	0.333000													16	58					0	0	1	0	0
PWP1	11137	broad.mit.edu	37	12	108086644	108086644	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:108086644G>C	ENST00000412830.3	+	4	541	c.373G>C	c.(373-375)Gat>Cat	p.D125H	PWP1_ENST00000541166.1_Missense_Mutation_p.D63H	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	125					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CGGGAGTAATGATCAAGATCC	0.348000													11	51					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794745	124794745	+	Silent	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:124794745A>G	ENST00000298251.4	-	2	711	c.306T>C	c.(304-306)ttT>ttC	p.F102F		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	102	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AGCCATTTTCAAAGAGTCGGA	0.592000													28	122					0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220986691	220986691	+	Silent	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:220986691G>C	ENST00000366910.5	+	7	1131	c.945G>C	c.(943-945)ggG>ggC	p.G315G	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	315	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CACTCTTTGGGCAGTATTTTG	0.473000													10	154					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378831	114378831	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:114378831C>G	ENST00000312719.5	-	5	1819	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.E211Q|RP3-399L15.3_ENST00000519270.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	211					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GCCAGCTTCTCAAACTTGTAA	0.413000													27	328					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18022154	18022154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:18022154G>A	ENST00000262608.8	+	15	2259	c.2259G>A	c.(2257-2259)tgG>tgA	p.W753*	CECR2_ENST00000400573.4_Nonsense_Mutation_p.W752*|CECR2_ENST00000400585.2_Nonsense_Mutation_p.W611*	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	794					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTGCCGTCTGGAATGGGAACC	0.577000													12	50					0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57828902	57828902	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:57828902A>C	ENST00000309668.2	+	1	360	c.233A>C	c.(232-234)cAc>cCc	p.H78P	INHBC_ENST00000550133.1_Missense_Mutation_p.H78P	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	78					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GCACTGCAGCACCTCCACGGG	0.567000													5	61					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46979498	46979498	+	Silent	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:46979498G>C	ENST00000264318.3	-	4	1405	c.423C>G	c.(421-423)gtC>gtG	p.V141V		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	141					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTATGTGAGACAGATTTCT	0.328000													7	68					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552562	140552562	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140552562C>T	ENST00000231137.3	+	1	320	c.146C>T	c.(145-147)gCa>gTa	p.A49V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		49	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCAACTTGGCAAAAGACCTA	0.493000													14	92					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907281	153907281	+	Missense_Mutation	SNP	G	G	C	rs3835302		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:153907281G>C	ENST00000361217.4	-	18	3146	c.2728C>G	c.(2728-2730)Cag>Gag	p.Q910E		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	910	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACctgctcctgctgctgctgc	0.637000													5	49					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70993468	70993468	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:70993468G>A	ENST00000357250.6	-	6	910	c.752C>T	c.(751-753)aCt>aTt	p.T251I	COL9A1_ENST00000370496.3_Missense_Mutation_p.T251I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	251	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCATGGCAAGTTTCTCTCCT	0.522000													4	22					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92789163	92789163	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:92789163C>A	ENST00000370343.3	+	8	795	c.686C>A	c.(685-687)cCa>cAa	p.P229Q	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	229						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TCCATTCTACCAGGAAACAGA	0.383000													17	115					1.15088e-07	1.2561e-07	1	1	0
CNOT6L	246175	broad.mit.edu	37	4	78697453	78697453	+	Silent	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:78697453T>C	ENST00000504123.1	-	2	229	c.99A>G	c.(97-99)aaA>aaG	p.K33K	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Silent_p.K33K			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	33					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CCCAGTGAGATTTTTTCCCAT	0.373000													27	131					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39782292	39782292	+	Splice_Site	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:39782292G>T	ENST00000518237.1	+	8	1346		c.e8+1		RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Splice_Site	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1						female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	ATTTGTCTGGGTATGTAGTCT	0.353000													3	13					1	1	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3239737	3239737	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chrX:3239737A>G	ENST00000217939.6	-	5	4143	c.3989T>C	c.(3988-3990)gTt>gCt	p.V1330A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1330						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATTTGTGGCAACATCATCCTT	0.378000													14	67					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164716372	164716372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:164716372C>T	ENST00000264382.3	-	38	4558	c.4496G>A	c.(4495-4497)gGa>gAa	p.G1499E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1499	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATAGTTGTCTCCAAGCCAGTG	0.388000										HNSCC(35;0.089)			8	155					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142779482	142779482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:142779482C>G	ENST00000343796.2	-	2	1916	c.923G>C	c.(922-924)gGa>gCa	p.G308A	NR3C1_ENST00000231509.3_Missense_Mutation_p.G308A|NR3C1_ENST00000394466.2_Missense_Mutation_p.G308A|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Missense_Mutation_p.G308A|NR3C1_ENST00000424646.2_Missense_Mutation_p.G308A|NR3C1_ENST00000503201.1_Missense_Mutation_p.G308A|NR3C1_ENST00000394464.2_Missense_Mutation_p.G308A|NR3C1_ENST00000415690.2_Missense_Mutation_p.G308A	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	308	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TATATTTGCTCCAGGAAAGCT	0.418000													14	144					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588376	247588376	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:247588376C>T	ENST00000366497.2	+	4	2411	c.1631C>T	c.(1630-1632)aCg>aTg	p.T544M	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.T544M|NLRP3_ENST00000391827.2_Missense_Mutation_p.T544M|NLRP3_ENST00000366496.2_Missense_Mutation_p.T544M|NLRP3_ENST00000348069.2_Missense_Mutation_p.T544M|NLRP3_ENST00000391828.3_Missense_Mutation_p.T544M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	544					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.T544M(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGGAAGGACGAACGTTCCA	0.473000													8	49					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67691743	67691743	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:67691743C>A	ENST00000219251.8	-	11	1800	c.1469G>T	c.(1468-1470)aGg>aTg	p.R490M	ACD_ENST00000393919.4_Missense_Mutation_p.R493M	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	493					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ATCACGATGCCTCTTTGGGGG	0.587000													27	68					1.75199e-13	1.96841e-13	1	1	0
RPAP2	79871	broad.mit.edu	37	1	92789160	92789160	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:92789160T>A	ENST00000370343.3	+	8	792	c.683T>A	c.(682-684)cTa>cAa	p.L228Q	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	228						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TCCTCCATTCTACCAGGAAAC	0.383000													18	114					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55252633	55252633	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:55252633T>C	ENST00000337526.6	-	3	2845	c.2602A>G	c.(2602-2604)Ata>Gta	p.I868V	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.I662V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.I662V|RTN4_ENST00000404909.1_Missense_Mutation_p.I662V|RTN4_ENST00000354474.6_Missense_Mutation_p.I636V|RTN4_ENST00000405240.1_Missense_Mutation_p.I662V|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	868					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AACTCATCTATAATTTCAATT	0.333000													21	86					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70728861	70728861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:70728861C>T	ENST00000354185.4	+	7	1318	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	407						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ACTCAGAAAACGGCAATAACT	0.328000													10	79					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552561	140552561	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140552561G>C	ENST00000231137.3	+	1	319	c.145G>C	c.(145-147)Gca>Cca	p.A49P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		49	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCAACTTGGCAAAAGACCT	0.493000													13	92					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8790999	8790999	+	Splice_Site	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:8790999G>A	ENST00000447110.1	-	11	1742	c.1616_splice	c.e11-1	p.R540_splice	PIK3R5_ENST00000584803.1_Splice_Site_p.R540_splice|PIK3R5_ENST00000581552.1_Splice_Site_p.R540_splice	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	540					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTCTCCAGCCGCCTGGCAAGA	0.582000													3	10					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32172089	32172089	+	Silent	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:32172089T>A	ENST00000375023.3	-	19	3081	c.2943A>T	c.(2941-2943)ggA>ggT	p.G981G		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	981	EGF-like 25.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGTACAGGTTCCATGGTTGT	0.562000													7	46					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764402	140764402	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140764402G>A	ENST00000518325.1	+	1	1936	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGCCGTCCAGGACCA	0.662000													8	57					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29356553	29356553	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:29356553C>G	ENST00000320081.5	+	5	655	c.400C>G	c.(400-402)Cag>Gag	p.Q134E	CLIP4_ENST00000401605.1_Missense_Mutation_p.Q134E|CLIP4_ENST00000401617.2_Missense_Mutation_p.Q27E|CLIP4_ENST00000404424.1_Missense_Mutation_p.Q134E	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	134										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTTGCAACTCAGCTTATTGA	0.368000													15	42					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48026701	48026714	+	Frame_Shift_Del	DEL	CTGGAAGGTGATCC	CTGGAAGGTGATCC	-	rs63751090		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:48026701_48026714delCTGGAAGGTGATCC	ENST00000234420.4	+	4	1731_1744	c.1579_1592delCTGGAAGGTGATCC	c.(1579-1593)cfs	p.LEGDP527fs	MSH6_ENST00000540021.1_Frame_Shift_Del_p.LEGDP397fs|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Frame_Shift_Del_p.LEGDP225fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	527					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACAGTGTGCTGGAAGGTGATCCCTCTGAGAAC	0.435			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				11	85	---	---	---	---					
FAM131A	131408	broad.mit.edu	37	3	184062544	184062547	+	Frame_Shift_Del	DEL	TGGG	TGGG	-	rs145523198	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:184062544_184062547delTGGG	ENST00000310585.4	+	3	2158_2161	c.794_797delTGGG	c.(793-798)ccfs	p.LG265fs	FAM131A_ENST00000383847.2_Frame_Shift_Del_p.LG296fs|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Frame_Shift_Del_p.LG211fs|FAM131A_ENST00000418281.1_Frame_Shift_Del_p.LG173fs|FAM131A_ENST00000453072.1_Frame_Shift_Del_p.LG211fs|FAM131A_ENST00000450976.1_Frame_Shift_Del_p.LG211fs			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	265						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCGCAGCCTGGGCCCACTGGAG	0.691													11	181	---	---	---	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)cgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													4	6	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:80751896_80751897insA	ENST00000509894.1	+	22	3377_3378	c.2548_2549insA	c.(2548-2550)aaafs	p.K850fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs			P33981	TTK_HUMAN	TTK protein kinase	851					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.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(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)		CAAGACTTTTGAAAAAAAAAGG	0.302													8	92	---	---	---	---					
PLG	5340	broad.mit.edu	37	6	161139457	161139457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:161139457delC	ENST00000308192.9	+	8	982	c.919delC	c.(919-921)atfs	p.H307fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	307	Kringle 3.				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)	CCCTCACACACATAACAGGAC	0.512													13	115	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													7	10	---	---	---	---					
IL25	64806	broad.mit.edu	37	14	23842343	23842350	+	Frame_Shift_Del	DEL	AGATTAGG	AGATTAGG	-			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:23842343_23842350delAGATTAGG	ENST00000329715.2	+	1	274_281	c.16_23delAGATTAGG	c.(16-24)tfs	p.RLG6fs	IL25_ENST00000397242.2_Intron	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	6					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		GGAGCGACCCAGATTAGGTGAGGACAGT	0.596													13	116	---	---	---	---					
ULK4P3	89837	broad.mit.edu	37	15	30406088	30406089	+	RNA	INS	-	-	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:30406088_30406089insT	ENST00000568486.1	+	0	402					NR_026859.1																						TGCCTCAAAAGTTTTTTTTTTT	0.297													7	30	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11049306	11049307	+	RNA	INS	-	-	T	rs57143135		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr21:11049306_11049307insT	ENST00000470054.1	-	0	659									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATATCCAGTAATTTTTTTAAGT	0.272													7	69	---	---	---	---					
