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
ABCC2	1244	broad.mit.edu	37	10	101559038	101559038	+	Silent	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr10:101559038G>A	ENST00000370449.4	+	8	1055	c.942G>A	c.(940-942)ctG>ctA	p.L314L		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	314						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGAAGGCTCTGTTCAAAACTT	0.403000													8	251					0	0	1	0	0
SPP2	6694	broad.mit.edu	37	2	234975872	234975872	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:234975872C>T	ENST00000168148.3	+	6	592	c.504C>T	c.(502-504)ctC>ctT	p.L168L	SPP2_ENST00000373368.1_Silent_p.L168L	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	168					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TTACAGGTCTCATTTCAGACG	0.393000													4	76					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587255	55587255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr11:55587255C>G	ENST00000333976.4	+	1	170	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTGTGATCATCAAAATCAACC	0.453000													15	127					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257698	16257698	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:16257698G>C	ENST00000375759.3	+	11	5167	c.4963G>C	c.(4963-4965)Gag>Cag	p.E1655Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1655					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)		ATCAGCACTAGAGAAGACCAC	0.493000													7	148					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	37					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78263580	78263580	+	Silent	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr17:78263580G>A	ENST00000582970.1	+	6	1199	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	RNF213_ENST00000456466.1_Silent_p.V352V|RNF213_ENST00000508628.2_Silent_p.V401V|RNF213_ENST00000319921.4_Silent_p.V352V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	352										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGCTGCTGTGAAAAACGAGA	0.527000													3	24					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138699732	138699732	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:138699732C>A	ENST00000520602.1	-	11	1404	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	MCF2_ENST00000414978.1_Missense_Mutation_p.E373D|MCF2_ENST00000338585.6_Missense_Mutation_p.E313D|MCF2_ENST00000519895.1_Missense_Mutation_p.E373D|MCF2_ENST00000536274.1_Missense_Mutation_p.E274D|MCF2_ENST00000370576.4_Missense_Mutation_p.E313D|MCF2_ENST00000370573.4_Missense_Mutation_p.E313D|MCF2_ENST00000370578.4_Missense_Mutation_p.E458D			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	313					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGCTTTTATCTCATTAACCA	0.393000													6	74					0.217242	0.217242	1	1	0
MMEL1	79258	broad.mit.edu	37	1	2538485	2538485	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:2538485G>C	ENST00000288709.6	-	7	772	c.532C>G	c.(532-534)Cag>Gag	p.Q178E	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Missense_Mutation_p.Q187E	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	187					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGCAGGGGCTGAGAGCCTCGC	0.652000													3	36					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77407181	77407181	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr15:77407181C>G	ENST00000560626.2	-	7	5033	c.4558G>C	c.(4558-4560)Gag>Cag	p.E1520Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.E1520Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1520	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AGCAGGTTCTCTAGGCGTAGA	0.542000													6	46					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190430213	190430213	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:190430213C>T	ENST00000261024.2	-	6	1053	c.627G>A	c.(625-627)tcG>tcA	p.S209S		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	209					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGTTCCATCCCGAAATAAAGC	0.488000													4	53					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70595670	70595670	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr16:70595670C>G	ENST00000302516.5	+	17	2482	c.2271C>G	c.(2269-2271)atC>atG	p.I757M		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	757					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TTGTGGCCATCTCCACCAACA	0.542000													6	59					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559562	140559562	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr5:140559562C>T	ENST00000239444.2	+	1	2192	c.1947C>T	c.(1945-1947)ggC>ggT	p.G649G		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		649	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGACAATGGCGAGCCTCCGT	0.706000													4	42					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13481367	13481367	+	Silent	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr10:13481367G>C	ENST00000341083.3	-	9	1508	c.1212C>G	c.(1210-1212)ctC>ctG	p.L404L	BEND7_ENST00000396900.2_Silent_p.L455L|BEND7_ENST00000486542.1_5'UTR	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	455							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCAGGAGCACGAGATGCTGCT	0.527000													5	53					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91030272	91030272	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr15:91030272G>A	ENST00000268182.5	+	32	4235	c.4111G>A	c.(4111-4113)Gtg>Atg	p.V1371M	IQGAP1_ENST00000560738.1_Missense_Mutation_p.V799M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1371	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CAAGTTCGACGTGCCTGGAGA	0.433000													7	66					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99931103	99931103	+	Missense_Mutation	SNP	C	C	T	rs143469082	byFrequency	TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:99931103C>T	ENST00000455616.1	-	18	2284	c.1938G>A	c.(1936-1938)atG>atA	p.M646I	SYTL4_ENST00000454200.2_Missense_Mutation_p.M648I|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000276141.6_Missense_Mutation_p.M646I|SYTL4_ENST00000263033.5_Missense_Mutation_p.M646I|SYTL4_ENST00000372989.1_Missense_Mutation_p.M646I			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	646					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTACTGTCGCATCTTCTGCC	0.547000													3	23					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158646059	158646059	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:158646059C>T	ENST00000368148.3	-	8	1164	c.984G>A	c.(982-984)gaG>gaA	p.E328E	SPTA1_ENST00000368147.3_Silent_p.E328E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	328					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E328E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGTCAGCTTCTCTGCTTTAG	0.498000													6	146					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586940	42586940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr8:42586940C>T	ENST00000289957.2	+	5	618	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	164					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCCGTTCGACCGACAGAACTG	0.483000													3	30					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q|RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ACATAGTTCTCAAACACTGTG	0.438000													8	84					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66641854	66641854	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:66641854C>G	ENST00000261233.4	+	12	2115	c.1694C>G	c.(1693-1695)tCa>tGa	p.S565*	IRAK3_ENST00000457197.2_Nonsense_Mutation_p.S504*	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	565					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GATCCTTCTTCAGAAGCTCCA	0.423000													12	108					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611665	50611665	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:50611665G>A	ENST00000444124.2	-	2	319	c.119C>T	c.(118-120)cCg>cTg	p.P40L	DDC_ENST00000380984.4_Missense_Mutation_p.P40L|DDC_ENST00000426377.1_Missense_Mutation_p.P40L|DDC_ENST00000357936.5_Missense_Mutation_p.P40L|DDC_ENST00000431062.1_Missense_Mutation_p.P40L	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	40					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AGGGATCAGCGGCCGCAGGTA	0.572000													7	141					0	0	1	0	0
TMEM173	340061	broad.mit.edu	37	5	138856034	138856034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr5:138856034C>T	ENST00000330794.4	-	8	1285	c.952G>A	c.(952-954)Gca>Aca	p.A318T		NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	318					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTCATCTGCAGGTTCTGGA	0.542000													5	26					0	0	1	0	0
UTP11L	51118	broad.mit.edu	37	1	38484759	38484759	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:38484759A>T	ENST00000373014.4	+	5	432	c.371A>T	c.(370-372)cAt>cTt	p.H124L	UTP11L_ENST00000537711.1_Missense_Mutation_p.H124L|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	124					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCAGAGCTCCATCTGCTGGAT	0.363000													4	58					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	19					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109535433	109535433	+	Silent	SNP	A	A	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr13:109535433A>T	ENST00000356711.2	+	13	1512	c.1386A>T	c.(1384-1386)tcA>tcT	p.S462S	MYO16_ENST00000251041.5_Silent_p.S462S|MYO16_ENST00000357550.2_Silent_p.S462S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	462	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCAGCTCCTCAGGGAAGCTGT	0.542000													7	123					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50869453	50869453	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:50869453G>T	ENST00000398473.2	+	16	2093	c.1981G>T	c.(1981-1983)Gtt>Ttt	p.V661F	LARP4_ENST00000429001.3_Missense_Mutation_p.V667F|LARP4_ENST00000293618.8_Missense_Mutation_p.V590F|LARP4_ENST00000347328.5_Missense_Mutation_p.V590F|LARP4_ENST00000518444.1_Missense_Mutation_p.V660F	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	661							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TGAGAACTCCGTTGAGAAACC	0.488000													8	115					0.000274275	0.000287132	1	1	0
DHRS7C	201140	broad.mit.edu	37	17	9684831	9684831	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr17:9684831C>G	ENST00000330255.4	-	2	247	c.235G>C	c.(235-237)Gat>Cat	p.D79H	DHRS7C_ENST00000571134.1_Missense_Mutation_p.D79H	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	79						extracellular region	binding|oxidoreductase activity	p.D79N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ATCAAGGCATCATATAGGTTC	0.547000													7	55					0	0	1	0	0
CEP57L1	285753	broad.mit.edu	37	6	109481812	109481812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:109481812G>T	ENST00000407272.1	+	12	1631	c.1054G>T	c.(1054-1056)Gaa>Taa	p.E352*	CEP57L1_ENST00000521522.1_Nonsense_Mutation_p.E299*|CEP57L1_ENST00000517392.1_Nonsense_Mutation_p.E352*|CEP57L1_ENST00000520883.1_Nonsense_Mutation_p.E252*|CEP57L1_ENST00000368970.2_Nonsense_Mutation_p.E369*|CEP57L1_ENST00000359793.3_Nonsense_Mutation_p.E352*|CEP57L1_ENST00000523787.1_Nonsense_Mutation_p.E355*|CEP57L1_ENST00000368968.2_Nonsense_Mutation_p.E352*|CEP57L1_ENST00000336977.4_Nonsense_Mutation_p.E252*	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	352						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						GAAGGAAACTGAAAGTCATTC	0.328000													8	65					5.18039e-06	5.78477e-06	1	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68703725	68703725	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr11:68703725G>A	ENST00000255078.3	+	13	1888	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	593					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTTCTTGCTGAGGACCGGAG	0.532000													11	136					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36175192	36175192	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:36175192C>T	ENST00000357641.6	+	4	1961	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	BRPF3_ENST00000534400.1_Missense_Mutation_p.R570W|BRPF3_ENST00000534694.1_Missense_Mutation_p.R570W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R570W|BRPF3_ENST00000543502.1_Missense_Mutation_p.R570W|BRPF3_ENST00000443324.2_Missense_Mutation_p.R570W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	570					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGAGCTGATTCGGAAGAGAGA	0.547000													5	27					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457885	159457885	+	Silent	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:159457885G>A	ENST00000367066.3	-	10	1501	c.1170C>T	c.(1168-1170)agC>agT	p.S390S	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.S212S|RP1-111C20.4_ENST00000606466.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	390					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGTCACCCGGCTCTCGAGGC	0.582000													4	50					0	0	1	0	0
SMR3B	10879	broad.mit.edu	37	4	71255552	71255552	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr4:71255552C>A	ENST00000304915.3	+	3	376	c.227C>A	c.(226-228)cCt>cAt	p.P76H	SMR3B_ENST00000504825.1_Missense_Mutation_p.P76H	NM_006685.3	NP_006676.1			submaxillary gland androgen regulated protein 3B											large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				CCACCACCCCCTCCTCAACCC	0.582000													7	70					8.12818e-05	8.92768e-05	1	1	0
CCDC171	203238	broad.mit.edu	37	9	15920328	15920328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:15920328G>A	ENST00000380701.3	+	25	3989	c.3661G>A	c.(3661-3663)Gag>Aag	p.E1221K	CCDC171_ENST00000486641.2_3'UTR	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	1221																	CATGACATTAGAGAAGGAAAT	0.338000													6	47					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31598918	31598918	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:31598918G>A	ENST00000376033.2	+	16	2702	c.2468G>A	c.(2467-2469)aGc>aAc	p.S823N	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S823N	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	823	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCTTCAGGAGCGAGACTCCT	0.488000													8	69					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	51					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266071	3266071	+	RNA	SNP	A	A	G	rs2550401	by1000genomes	TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr16:3266071A>G	ENST00000576468.1	+	0	418																											GCCAACTCGAATGCTCTGCTG	0.562000													4	42					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31683457	31683457	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:31683457G>A	ENST00000319386.3	+	11	3022	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	CCDC129_ENST00000407970.3_Missense_Mutation_p.E825K|CCDC129_ENST00000451887.2_Missense_Mutation_p.E851K|CCDC129_ENST00000409210.1_Missense_Mutation_p.E733K			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	825										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCCTGGCCCTGAACCCTCAGT	0.567000													6	69					0	0	1	0	0
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral to membrane		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682000													7	13					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801363	67801363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr13:67801363C>T	ENST00000544246.1	-	2	1901	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	PCDH9_ENST00000377861.3_Missense_Mutation_p.E404K|PCDH9_ENST00000377865.2_Missense_Mutation_p.E404K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E404K|PCDH9_ENST00000328454.5_Missense_Mutation_p.E404K	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	404	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTCTCTTTCAATAAAACAG	0.378000													7	103					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100868694	100868694	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:100868694G>A	ENST00000369208.3	-	10	1921	c.1139C>T	c.(1138-1140)tCa>tTa	p.S380L	SIM1_ENST00000262901.4_Missense_Mutation_p.S380L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	380	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCTGGATTTTGACTTTGAGCT	0.478000													4	43					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127335797	127335797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:127335797G>A	ENST00000265056.7	+	10	1853	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	537	MCM.				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						CAAGTATATTGAGAAAGTGTC	0.597000													8	105					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935293	30935293	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr19:30935293G>A	ENST00000355537.3	+	2	971	c.824G>A	c.(823-825)cGc>cAc	p.R275H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGGGCTTCCGCTGTACCTTC	0.667000													3	28					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140947	143140947	+	Silent	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:143140947G>A	ENST00000332690.1	+	1	402	c.402G>A	c.(400-402)aaG>aaA	p.K134K	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	134					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTGGCTAAAGCACAAGTTGT	0.478000													11	161					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997162	82997162	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:82997162T>A	ENST00000307792.3	-	17	2535	c.2068A>T	c.(2068-2070)Agg>Tgg	p.R690W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R630W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	690					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTGTGATGCCTGTCCTCCTCA	0.478000													6	80					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635016	179635016	+	Silent	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:179635016C>G	ENST00000589042.1	-	36	8636	c.8412G>C	c.(8410-8412)gtG>gtC	p.V2804V	TTN_ENST00000360870.5_Silent_p.V2804V|TTN_ENST00000591111.1_Silent_p.V2804V|TTN_ENST00000460472.2_Silent_p.V2758V|TTN_ENST00000359218.5_Silent_p.V2758V|TTN_ENST00000342175.6_Silent_p.V2758V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V2804V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2542							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAGGCTGTCACATCCTTTG	0.408000													6	99					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138869398	138869398	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:138869398C>A	ENST00000370557.1	-	15	2553	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	ATP11C_ENST00000359686.2_Missense_Mutation_p.G512V|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.G512V|ATP11C_ENST00000370543.1_Missense_Mutation_p.G512V|ATP11C_ENST00000327569.3_Missense_Mutation_p.G512V			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	512					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAATGTGAACCCGTACCTATC	0.308000													4	38					0.00024832	0.000264086	1	1	0
COL27A1	85301	broad.mit.edu	37	9	117014887	117014887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:117014887G>A	ENST00000356083.3	+	26	3439	c.3048G>A	c.(3046-3048)atG>atA	p.M1016I		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1016	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATCGTGGCATGATGGGACCCC	0.612000													9	86					0	0	1	0	0
CTBS	1486	broad.mit.edu	37	1	85029046	85029046	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:85029046G>T	ENST00000370630.4	-	6	899	c.851C>A	c.(850-852)gCt>gAt	p.A284D	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	284						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ACGTCCTGCAGCGTCACTACA	0.408000													4	38					0.00024832	0.000264086	1	1	0
POU4F1	5457	broad.mit.edu	37	13	79175606	79175606	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr13:79175606A>C	ENST00000377208.5	-	2	1415	c.1204T>G	c.(1204-1206)Tgg>Ggg	p.W402G	RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	402					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTGCAAAACCACACCCGCACC	0.607000													5	71					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73499573	73499573	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr17:73499573C>T	ENST00000321617.3	-	17	2302	c.1716G>A	c.(1714-1716)ctG>ctA	p.L572L	CASKIN2_ENST00000433559.2_Silent_p.L490L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	572	SAM 2.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTACTGTGGCAGCCCCAGTG	0.637000													4	59					0	0	1	0	0
PRIMPOL	201973	broad.mit.edu	37	4	185593362	185593362	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr4:185593362G>C	ENST00000314970.6	+	7	1025	c.592G>C	c.(592-594)Gac>Cac	p.D198H	CCDC111_ENST00000515774.1_Missense_Mutation_p.D69H|CCDC111_ENST00000512834.1_Missense_Mutation_p.D198H|CCDC111_ENST00000503752.1_Missense_Mutation_p.D198H	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		198					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		GCCTGCTCTTGACTTGCTTGG	0.423000													5	90					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638098	179638098	+	Splice_Site	SNP	T	T	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:179638098T>C	ENST00000589042.1	-	33	7819		c.e33-2		TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTAATTTCTGGGGAAAAAA	0.348000													6	39					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241208	3241208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:3241208C>A	ENST00000217939.6	-	5	2672	c.2518G>T	c.(2518-2520)Gaa>Taa	p.E840*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	840						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)				GCTGAGGATTCTTCAGCACTG	0.488000													7	68					2.0095e-06	2.28197e-06	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17211720	17211720	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr16:17211720C>T	ENST00000261381.6	-	11	2424	c.2340G>A	c.(2338-2340)gtG>gtA	p.V780V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	780					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAATGACGGTCACGGTCACAT	0.552000													4	65					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70637839	70637839	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:70637839T>C	ENST00000322773.4	+	5	407	c.305T>C	c.(304-306)gTa>gCa	p.V102A		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	102	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAGTACTCAGTAGCTGCCATG	0.418000													15	95					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746334	94746335	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr8:94746334_94746335insTG	ENST00000399300.2	-	3	2517_2518	c.2304_2305insCA	c.(2302-2307)ccagcafs	p.A769fs	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Frame_Shift_Ins_p.A649fs	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	769							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTGAAATGCTCTGGGGGTGGCC	0.673													13	81	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aag>aa	p.NK230del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601													7	346	---	---	---	---					
MBD6	114785	broad.mit.edu	37	12	57919453	57919454	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:57919453_57919454insT	ENST00000355673.3	+	6	1058_1059	c.702_703insT	c.(700-705)agccagfs	p.Q235fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.Q235fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	235	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTGCCCTCAGATCCAGCCTGGT	0.619													9	165	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:113704096_113704098delCTG	ENST00000550785.1	+	5	734_736	c.565_567delCTG	c.(565-567)del	p.L194del	TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.640													11	339	---	---	---	---					
COL20A1	57642	broad.mit.edu	37	20	61947987	61947987	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr20:61947987delC	ENST00000422202.1	+	20	2696	c.2628delC	c.(2626-2628)ttfs	p.F876fs	COL20A1_ENST00000358894.6_Frame_Shift_Del_p.F869fs|COL20A1_ENST00000326996.6_Frame_Shift_Del_p.F869fs|COL20A1_ENST00000435874.1_Frame_Shift_Del_p.F876fs			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	869	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTCTGCCTTCGGTGGGACCC	0.647													2	4	---	---	---	---					
