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
DLC1	10395	broad.mit.edu	37	8	12957837	12957837	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr8:12957837C>G	ENST00000276297.4	-	9	2418	c.2009G>C	c.(2008-2010)cGg>cCg	p.R670P	DLC1_ENST00000520226.1_Missense_Mutation_p.R159P|DLC1_ENST00000358919.2_Missense_Mutation_p.R233P|DLC1_ENST00000512044.2_Missense_Mutation_p.R267P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	670					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCTCCATCCGTTTCAGCAG	0.562000													105	88					0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49842318	49842318	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:49842318C>T	ENST00000340652.3	+	3	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	236	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGTCTCCATGCGAGAGGTGTC	0.507000													33	181					0	0	1	0	0
QPCT	25797	broad.mit.edu	37	2	37594451	37594451	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr2:37594451C>G	ENST00000338415.3	+	4	781	c.623C>G	c.(622-624)tCt>tGt	p.S208C	QPCT_ENST00000537448.1_Missense_Mutation_p.S159C	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	208					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTTCACTGGTCTCCTCAAGAT	0.488000													28	46					0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41791868	41791868	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr22:41791868C>T	ENST00000266304.4	+	4	932	c.816C>T	c.(814-816)aaC>aaT	p.N272N	TEF_ENST00000406644.3_Silent_p.N242N	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	272	Leucine-zipper.				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						AGAAGGAGAACACAGCCCTGC	0.587000													56	80					0	0	1	0	0
RRAGA	10670	broad.mit.edu	37	9	19049841	19049841	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:19049841G>T	ENST00000380527.1	+	1	470	c.184G>T	c.(184-186)Gac>Tac	p.D62Y		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	62					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						GAACCTGTGGGACTGTGGCGG	0.542000													16	7					1.99824e-07	2.23683e-07	1	1	0
PPEF2	5470	broad.mit.edu	37	4	76787356	76787356	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:76787356G>T	ENST00000286719.7	-	15	2262	c.1906C>A	c.(1906-1908)Caa>Aaa	p.Q636K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	636					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGACTCAGTTGTTCCTTGGCC	0.493000													65	85					1.05635e-38	1.23791e-38	1	1	0
WDR63	126820	broad.mit.edu	37	1	85551533	85551533	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:85551533G>A	ENST00000294664.6	+	7	740	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	WDR63_ENST00000326813.8_Missense_Mutation_p.R187Q|WDR63_ENST00000370596.1_Missense_Mutation_p.R187Q	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	187										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATGATTTCTCGAAAACGAAGT	0.373000													12	7					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23926730	23926730	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:23926730T>A	ENST00000402377.3	-	4	1763	c.1622A>T	c.(1621-1623)aAa>aTa	p.K541I	ZNF681_ENST00000395385.3_Missense_Mutation_p.K472I	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTTAAAGGCTTTGCCACATTC	0.393000													13	13					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171330202	171330202	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr3:171330202G>A	ENST00000356327.5	-	24	2705	c.2635C>T	c.(2635-2637)Cgc>Tgc	p.R879C	PLD1_ENST00000340989.4_Missense_Mutation_p.R917C|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.R917C	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	917	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGCATGCTGCGGTCATTTATG	0.493000													7	49					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99300314	99300314	+	Splice_Site	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:99300314G>A	ENST00000408927.3	+	5	621	c.508_splice	c.e5+1	p.D170_splice	RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000453712.2_Splice_Site_p.D171_splice|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000339360.5_Splice_Site_p.D171_splice	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	170							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAATGAGAATGGTAAACAAAA	0.333000			T	NUP98	T-ALL								23	50					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61557154	61557154	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:61557154C>T	ENST00000290866.4	+	4	560	c.536C>T	c.(535-537)tCg>tTg	p.S179L	ACE_ENST00000428043.1_Missense_Mutation_p.S179L|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.S179L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	179	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTGGCTTCCTCGCGAAGCTAC	0.602000													34	53					0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940541	67940541	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:67940541C>T	ENST00000357461.2	-	3	509	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	TMEM229B_ENST00000557006.1_Missense_Mutation_p.V34M	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	34						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGTTCACCACGAACTCCCAG	0.617000													13	14					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555313	44555313	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr18:44555313A>G	ENST00000330682.2	-	1	1136	c.901T>C	c.(901-903)Tcc>Ccc	p.S301P	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	301				S -> C (in Ref. 1; BAC01113).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCTGGCGCGGAGAGTGCTTCT	0.632000													59	1863					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65180375	65180375	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:65180375G>T	ENST00000381210.3	-	5	652	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	TECRL_ENST00000507440.1_Missense_Mutation_p.P181Q|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	181					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTGTACCACTGGGTGGCGTAA	0.438000													7	18					0.00198382	0.00203817	1	1	0
CROCCP2	0	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													3	28					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18888133	18888133	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:18888133C>A	ENST00000338797.6	+	15	1919	c.1894C>A	c.(1894-1896)Ccc>Acc	p.P632T	CRTC1_ENST00000321949.8_Missense_Mutation_p.P616T|CRTC1_ENST00000601916.1_Missense_Mutation_p.P374T|CRTC1_ENST00000594658.1_Missense_Mutation_p.P575T	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	616					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCTCAACGACCCCGACATGGT	0.682000													168	288					5.35467e-60	6.3746e-60	1	1	0
LILRB2	0	broad.mit.edu	37	19	54778558	54778558	+	Silent	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:54778558G>A	ENST00000391748.1	-	14	1900	c.1773C>T	c.(1771-1773)taC>taT	p.Y591Y	LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000434421.1_Silent_p.Y476Y|LILRB2_ENST00000391749.4_Silent_p.Y592Y|LILRB2_ENST00000314446.5_Silent_p.Y591Y	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	592					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGGGTGGCGTAGATGCTGG	0.617000													36	67					0	0	1	0	0
CSN3	1448	broad.mit.edu	37	4	71114862	71114862	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:71114862A>G	ENST00000304954.3	+	4	321	c.235A>G	c.(235-237)Aca>Gca	p.T79A		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	79						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGTGCCTCGCACATATTATGC	0.448000													29	33					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	463659	463659	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:463659C>A	ENST00000432829.2	+	47	6323	c.6007C>A	c.(6007-6009)Cca>Aca	p.P2003T	DOCK8_ENST00000469391.1_Missense_Mutation_p.P1971T|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA|DOCK8_ENST00000453981.1_Missense_Mutation_p.P2071T|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|DOCK8_ENST00000382329.1_Missense_Mutation_p.P1538T|RP11-165F24.3_ENST00000589287.1_RNA	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2071					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTGTACAAGCCAATATTCAG	0.478000													4	29					0.00909568	0.00921859	1	1	0
ANK3	288	broad.mit.edu	37	10	61835813	61835813	+	Missense_Mutation	SNP	G	G	A	rs148024054	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:61835813G>A	ENST00000280772.1	-	37	5017	c.4826C>T	c.(4825-4827)aCg>aTg	p.T1609M	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1609	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTAAGGGCGTAGCTTCCGT	0.473000													52	22					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5372548	5372548	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:5372548C>T	ENST00000399537.4	-	19	6200	c.5852G>A	c.(5851-5853)cGc>cAc	p.R1951H	TNRC18_ENST00000430969.1_Missense_Mutation_p.R1951H			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1951							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTCGGGACCGCGGGCGCCAGG	0.751000													6	21					0	0	1	0	0
BTC	685	broad.mit.edu	37	4	75673309	75673309	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:75673309G>T	ENST00000395743.3	-	5	839	c.479C>A	c.(478-480)aCt>aAt	p.T160N		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	160					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)			TTTACCCAGAGTTTCCATTTC	0.353000													7	13					8.12818e-05	8.46686e-05	1	1	0
ESRRB	2103	broad.mit.edu	37	14	76905888	76905888	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:76905888C>T	ENST00000380887.2	+	2	264	c.192C>T	c.(190-192)ggC>ggT	p.G64G	ESRRB_ENST00000556177.1_Silent_p.G64G|ESRRB_ENST00000509242.1_Silent_p.G64G|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Silent_p.G64G			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGTTTGCAGGCGCCGGGCTGG	0.677000													20	53					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51097053	51097053	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:51097053C>T	ENST00000395542.2	-	12	2170	c.1986G>A	c.(1984-1986)gcG>gcA	p.A662A	COBL_ENST00000265136.7_Silent_p.A580A			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	580										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTGAAGTGGCGCCAGGGAGT	0.552000													19	61					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29038477	29038477	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr18:29038477C>A	ENST00000257189.4	+	4	369	c.286C>A	c.(286-288)Cct>Act	p.P96T		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	96	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGATCAGCCGCCTTTTGGAAT	0.443000													17	33					3.52763e-06	3.83438e-06	1	1	0
CDHR1	92211	broad.mit.edu	37	10	85970774	85970774	+	Silent	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:85970774G>A	ENST00000372117.3	+	13	1441	c.1338G>A	c.(1336-1338)gtG>gtA	p.V446V	CDHR1_ENST00000332904.3_Silent_p.V446V|CDHR1_ENST00000440770.2_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	446	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGTTGAAGTGAACACCCCAG	0.552000													5	112					0	0	1	0	0
GOLGA8I	0	broad.mit.edu	37	15	23261024	23261024	+	Missense_Mutation	SNP	A	A	T	rs146352451	by1000genomes	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr15:23261024A>T	ENST00000450802.3	+	10	797	c.699A>T	c.(697-699)caA>caT	p.Q233H																								CATTTCAACAACTCCAATTAG	0.502000													3	32					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821247	35821247	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chrX:35821247G>T	ENST00000399989.1	+	2	1213	c.934G>T	c.(934-936)Gct>Tct	p.A312S	MAGEB16_ENST00000399987.1_Missense_Mutation_p.A312S|MAGEB16_ENST00000399985.1_Missense_Mutation_p.A312S|MAGEB16_ENST00000399992.1_Missense_Mutation_p.A344S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.A312S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	312	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTATGCGGAAGCTCTGAAAGA	0.488000													5	1					0.184627	0.184627	1	1	0
USP32P3	0	broad.mit.edu	37	17	20320135	20320135	+	RNA	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:20320135C>T	ENST00000583574.2	+	0	333																											ACAGCAGGGCCATTTGGCCTG	0.577000													4	5					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5255603	5255603	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr11:5255603C>T	ENST00000380299.3	-	1	275	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	HBD_ENST00000292901.3_Missense_Mutation_p.V21M	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	21			V -> E (in Roosevelt; dbSNP:rs34093840).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCATCCACGTTCACTTTG	0.507000													19	37					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428501	57428501	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr20:57428501G>A	ENST00000371100.4	+	1	733	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	GNAS_ENST00000371102.4_Missense_Mutation_p.V61I|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.V61I|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCCATCCCCGTCGAGAATGA	0.642000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			10	14					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151914325	151914325	+	Silent	SNP	C	C	T	rs113968720		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr6:151914325C>T	ENST00000367290.5	+	8	1466	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	CCDC170_ENST00000239374.7_Silent_p.D459D			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	459								p.D459E(1)									TGCGGCTGGACGTGGTTTTAG	0.453000													23	31					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560371	35560371	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:35560371A>T	ENST00000455600.1	+	10	4303	c.3734A>T	c.(3733-3735)gAg>gTg	p.E1245V		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1245	Poly-Glu.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			gaggaagaagaggagacagaa	0.682000													24	35					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69689703	69689703	+	Splice_Site	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:69689703G>A	ENST00000349945.1	+	7	2466		c.e7+1		NFAT5_ENST00000567239.1_Splice_Site|NFAT5_ENST00000432919.1_Splice_Site|NFAT5_ENST00000393742.2_Splice_Site|NFAT5_ENST00000354436.2_Splice_Site|NFAT5_ENST00000566899.1_Splice_Site	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive						excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGACACTGGCGTAAGTACTTA	0.353000													15	27					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274118	51274118	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:51274118C>T	ENST00000270590.4	+	1	398	c.261C>T	c.(259-261)gcC>gcT	p.A87A		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	87						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGCCCTTGCCGATTTCATGC	0.562000													26	46					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150948306	150948306	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr5:150948306C>T	ENST00000261800.5	-	1	199	c.187G>A	c.(187-189)Gcg>Acg	p.A63T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	63	Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGCTCCGCGAGGTAGATG	0.493000													56	105					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123179197	123179197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chrX:123179197C>T	ENST00000371160.1	+	8	936	c.646C>T	c.(646-648)Cga>Tga	p.R216*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R147*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R216*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R216*			Q8N3U4	STAG2_HUMAN	stromal antigen 2	216					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGAGCATTTCGACATACAAG	0.343000													44	13					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89685307	89685307	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:89685307T>C	ENST00000371953.3	+	3	1559	c.202T>C	c.(202-204)Tac>Cac	p.Y68H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	68	Phosphatase tensin-type.		Y -> H (in CD and BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Y68H(8)|p.?(6)|p.R55fs*1(5)|p.Y68N(2)|p.Y68fs*5(2)|p.Y27fs*1(2)|p.I67_Y68insY(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACAAGATATACAATCTGTA	0.274000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			2	2					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35692734	35692734	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr5:35692734G>A	ENST00000440995.2	+	12	1807	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	SPEF2_ENST00000509059.1_Missense_Mutation_p.D603N|SPEF2_ENST00000356031.3_Missense_Mutation_p.D603N|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	603					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCATTTCATGACAATGAAAA	0.343000													27	34					0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43344046	43344046	+	Silent	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr20:43344046G>A	ENST00000372868.2	+	2	358	c.15G>A	c.(13-15)ccG>ccA	p.P5P	WISP2_ENST00000190983.4_Silent_p.P5P|WISP2_ENST00000372865.4_Silent_p.P5P|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	5					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GAGGCACACCGAAGACCCACC	0.612000													5	7					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487786	248487786	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:248487786A>T	ENST00000317965.2	-	1	113	c.85T>A	c.(85-87)Ttt>Att	p.F29I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACCAGAAAGAAGAGGAAG	0.502000													106	126					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752430	19752430	+	Missense_Mutation	SNP	C	C	T	rs140107190		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr13:19752430C>T	ENST00000400113.3	-	3	435	c.331G>A	c.(331-333)Ggc>Agc	p.G111S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	111					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G111S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCCTTGCCGATGGTGTAA	0.542000													50	86					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661187	22661187	+	RNA	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr22:22661187G>A	ENST00000426066.1	+	0	279					NR_027293.1																						CCCCCACCCCGTCATGTACAG	0.413000													5	42					0	0	1	0	0
QDPR	5860	broad.mit.edu	37	4	17513644	17513644	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:17513644G>A	ENST00000281243.5	-	1	213	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	QDPR_ENST00000513615.1_Missense_Mutation_p.R12W|QDPR_ENST00000428702.2_Missense_Mutation_p.R12W|QDPR_ENST00000508623.1_Missense_Mutation_p.R12W	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	12					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	ACCAGCACCCGGCGCGCCTCG	0.756000													19	19					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75022287	75022287	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:75022287C>T	ENST00000261978.4	-	4	1326	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.A314T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	314					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGGGCAGGGCGTTGGAAGAG	0.652000													10	109					0	0	1	0	0
LILRB2	0	broad.mit.edu	37	19	54780127	54780127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:54780127C>A	ENST00000391748.1	-	12	1712	c.1585G>T	c.(1585-1587)Gaa>Taa	p.E529*	LILRB2_ENST00000391746.1_Missense_Mutation_p.K504N|LILRB2_ENST00000434421.1_Nonsense_Mutation_p.E414*|LILRB2_ENST00000391749.4_Nonsense_Mutation_p.E530*|LILRB2_ENST00000314446.5_Nonsense_Mutation_p.E529*	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	530					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGAGGTTTTCTTCCTGGGCG	0.627000													17	111					6.49762e-13	7.38366e-13	1	1	0
PSG8	0	broad.mit.edu	37	19	43258728	43258728	+	Missense_Mutation	SNP	G	G	T	rs138526624	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:43258728G>T	ENST00000404209.4	-	5	1096	c.1000C>A	c.(1000-1002)Ctc>Atc	p.L334I	PSG8_ENST00000401467.2_Missense_Mutation_p.L241I|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.L334I|PSG8_ENST00000406636.3_Missense_Mutation_p.L212I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	334						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTCTGGGGAGGTCTGGACCA	0.502000													5	82					1.23904e-05	1.32754e-05	1	1	0
EMC1	23065	broad.mit.edu	37	1	19563721	19563721	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:19563721C>T	ENST00000477853.1	-	12	1266	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	EMC1_ENST00000375199.3_Silent_p.Q407Q|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.Q386Q	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		TCAAGAACACCTGGATATACA	0.502000													44	81					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249144	238249144	+	Silent	SNP	G	G	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr2:238249144G>A	ENST00000295550.4	-	38	8867	c.8415C>T	c.(8413-8415)aaC>aaT	p.N2805N	COL6A3_ENST00000353578.4_Silent_p.N2599N|COL6A3_ENST00000347401.3_Silent_p.N2604N|COL6A3_ENST00000346358.4_Silent_p.N2605N|COL6A3_ENST00000472056.1_Silent_p.N2198N|COL6A3_ENST00000409809.1_Silent_p.N2599N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2805	Nonhelical region.|VWFA 12.		N -> T (in dbSNP:rs35848091).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGGCTCCTCGTTGAGCTCGG	0.557000													34	47					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575087	19575087	+	Silent	SNP	C	C	T	rs151258565	by1000genomes	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr3:19575087C>T	ENST00000328405.2	+	16	3086	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	940						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCAAACAGGCGGGGCTGCTT	0.542000													33	44					0	0	1	0	0
TMEM99	147184	broad.mit.edu	37	17	38991040	38991040	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:38991040T>A	ENST00000301665.3	+	3	576	c.272T>A	c.(271-273)tTg>tAg	p.L91*		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	91						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTCATCGGTTGAGAGAAGGA	0.458000													79	90					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100361871	100361871	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:100361871C>T	ENST00000294724.4	+	25	3767	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C	AGL_ENST00000370161.2_Missense_Mutation_p.R1081C|AGL_ENST00000361302.3_Missense_Mutation_p.R1081C|AGL_ENST00000361522.4_Missense_Mutation_p.R1080C|AGL_ENST00000370163.3_Missense_Mutation_p.R1097C|AGL_ENST00000361915.3_Missense_Mutation_p.R1097C|AGL_ENST00000370165.3_Missense_Mutation_p.R1097C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1097					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGTATTTTCCGCTGCTGGGG	0.373000													29	44					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380663	56380663	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr11:56380663C>T	ENST00000526538.1	-	1	315	c.316G>A	c.(316-318)Gcc>Acc	p.A106T		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A106T(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ATCACCAGGGCGATGAAGAGA	0.448000													20	30					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298219	107298219	+	Silent	SNP	C	C	T	rs145221004		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:107298219C>T	ENST00000374781.2	-	1	918	c.876G>A	c.(874-876)ccG>ccA	p.P292P		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGAGACTTCGGTTTCGCAT	0.438000													39	68					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578276	9578276	+	Silent	SNP	T	T	A			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:9578276T>A	ENST00000301480.4	-	10	1560	c.1347A>T	c.(1345-1347)ggA>ggT	p.G449G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCTCAAATGTCCAAAAAGAG	0.398000													41	48					0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1962140	1962140	+	Silent	SNP	C	C	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:1962140C>T	ENST00000454677.2	-	2	596	c.531G>A	c.(529-531)acG>acA	p.T177T	HS3ST6_ENST00000443547.1_Silent_p.T129T|HS3ST6_ENST00000293937.3_Silent_p.T160T			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	129										endometrium(2)|lung(2)	4						GGGCCTCTCGCGTCACGAAGT	0.672000													17	23					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726330	63726330	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:63726330C>G	ENST00000421025.1	+	5	588	c.319C>G	c.(319-321)Ctc>Gtc	p.L107V	ZNF679_ENST00000255746.4_Missense_Mutation_p.L107V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAAAGATTCACTCCAAAAAGT	0.378000													8	17					0	0	1	0	0
PMS2P4	0	broad.mit.edu	37	7	66762432	66762432	+	RNA	DEL	G	G	-	rs60169909		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:66762432delG	ENST00000414507.1	-	0	184																											gtctcaaaaagaaaaaaaaaa	0.408													4	5	---	---	---	---					
TCF12	6938	broad.mit.edu	37	15	57554314	57554315	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr15:57554314_57554315insT	ENST00000267811.5	+	16	1722_1723	c.1418_1419insT	c.(1417-1419)tgtfs	p.C473fs	TCF12_ENST00000343827.3_Frame_Shift_Ins_p.C303fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.C327fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.C497fs|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.C131fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.C473fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.C493fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.C237fs|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.C107fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.C497fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	473					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.S497fs*12(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CGGGAAGACTCTGTCAGTCTCA	0.351			T	TEC	extraskeletal myxoid chondrosarcoma								6	10	---	---	---	---					
CREBBP	1387	broad.mit.edu	37	16	3828795	3828795	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:3828795delG	ENST00000262367.5	-	9	2656	c.1847delC	c.(1846-1848)ctfs	p.P616fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P578fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	616	KIX.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.P616R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCGGGATCAGGTGTTGGGAA	0.468			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						46	87	---	---	---	---					
RP11-1166P10.8	0	broad.mit.edu	37	16	32126940	32126941	+	RNA	INS	-	-	C			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:32126940_32126941insC	ENST00000564145.1	-	0	456																											TTGACCCCCCGCCGCCGCGGCT	0.663													2	4	---	---	---	---					
