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
GFPT1	2673	broad.mit.edu	37	2	69554110	69554110	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:69554110C>T	ENST00000357308.4	-	19	2169	c.1991G>A	c.(1990-1992)gGc>gAc	p.G664D	GFPT1_ENST00000361060.5_Missense_Mutation_p.G646D	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	664	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GCTGAGAATGCCCTGCAAGCA	0.488000													4	131					0	0	0.000602	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70842422	70842422	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:70842422A>G	ENST00000256366.4	-	3	349	c.268T>C	c.(268-270)Tat>Cat	p.Y90H	SYNJ2BP_ENST00000554216.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		GACACAGCATAGCCTGCATTA	0.473000													6	195					0	0	0.001984	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381990	41381990	+	Silent	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:41381990G>T	ENST00000377801.3	-	2	824	c.750C>A	c.(748-750)acC>acA	p.T250T	PLCXD3_ENST00000328457.3_Silent_p.T250T			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	250					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAGCTTTGGGGGTCAGCACCA	0.463000													38	130					5.44703e-19	7.13301e-19	0.002222	1	0
C1orf65	164127	broad.mit.edu	37	1	223568185	223568185	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:223568185C>A	ENST00000366875.3	+	1	1471	c.1368C>A	c.(1366-1368)ttC>ttA	p.F456L		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	456										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AACAAAGTTTCCAGCGGTCCC	0.607000													15	55					4.7546e-09	5.68485e-09	0.004007	1	0
HIST1H1C	3006	broad.mit.edu	37	6	26056346	26056346	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr6:26056346G>A	ENST00000343677.2	-	1	353	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	104	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GAGTTTAAAGGAGCCAGAAGC	0.527000													46	164					0	0	0.003610	0	0
GLIS3	169792	broad.mit.edu	37	9	3828287	3828287	+	Silent	SNP	G	G	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr9:3828287G>C	ENST00000324333.10	-	10	2506	c.2313C>G	c.(2311-2313)gtC>gtG	p.V771V	GLIS3_ENST00000381971.3_Silent_p.V926V|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	771					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTTCGGTGTAGACAGAGGAGA	0.562000													11	29					0	0	0.000978	0	0
SYTL2	54843	broad.mit.edu	37	11	85436182	85436182	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr11:85436182C>T	ENST00000359152.5	-	1	2889	c.2890G>A	c.(2890-2892)Gta>Ata	p.V964I	SYTL2_ENST00000525423.1_Missense_Mutation_p.V440I|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.V440I	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGGCTACATACTGGCTGTACT	0.463000													20	86					0	0	0.002299	0	0
SAGE1	55511	broad.mit.edu	37	X	134988650	134988650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:134988650C>T	ENST00000535938.1	+	7	843	c.676C>T	c.(676-678)Cga>Tga	p.R226*	SAGE1_ENST00000370709.3_Nonsense_Mutation_p.R226*|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.R226*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	226										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTTGACTCTTCGACCACGGCG	0.428000													11	287					0	0	0.000978	0	0
IGSF10	285313	broad.mit.edu	37	3	151163027	151163027	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr3:151163027G>T	ENST00000282466.3	-	4	4741	c.4742C>A	c.(4741-4743)tCa>tAa	p.S1581*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1581					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAATTTCTGAGTATGGTTT	0.438000													22	187					2.37509e-13	2.96886e-13	0.001523	1	0
WWC1	23286	broad.mit.edu	37	5	167858267	167858267	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:167858267G>A	ENST00000265293.4	+	15	2600	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	WWC1_ENST00000521089.1_Missense_Mutation_p.V700M	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	700	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAATATCCGCGTGGCTGTCCT	0.532000													7	125					0	0	0.001984	0	0
SDK1	221935	broad.mit.edu	37	7	4259754	4259754	+	Silent	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:4259754G>T	ENST00000404826.2	+	39	5692	c.5553G>T	c.(5551-5553)gtG>gtT	p.V1851V	SDK1_ENST00000389531.3_Silent_p.V1831V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1851	Fibronectin type-III 12.				cell adhesion	integral to membrane		p.V1851V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGAGCAAGGTGGTGACCGTGG	0.567000													22	114					5.26018e-13	6.42911e-13	0.001882	1	0
IGHV3-38	28429	broad.mit.edu	37	14	106866707	106866707	+	RNA	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:106866707C>T	ENST00000390618.2	-	0	124																											ACACTGGACACCTGCAAACAC	0.537000													4	220					0	0	0.000248	0	0
SLC4A4	8671	broad.mit.edu	37	4	72121038	72121038	+	Silent	SNP	A	A	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr4:72121038A>C	ENST00000425175.1	+	3	292	c.175A>C	c.(175-177)Aga>Cga	p.R59R	SLC4A4_ENST00000351898.6_Silent_p.R59R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Silent_p.R59R	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	59						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGAAAAGGAGAGAATCTCTGA	0.448000													7	130					0	0	0.001984	0	0
PPIF	10105	broad.mit.edu	37	10	81113478	81113478	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr10:81113478T>C	ENST00000394579.3	+	5	506	c.428T>C	c.(427-429)aTg>aCg	p.M143T	PPIF_ENST00000225174.3_Silent_p.H168H			P30405	PPIF_HUMAN	peptidylprolyl isomerase F	0	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	ATGGCAAGCATGTTGTGTTCG	0.502000													37	132					0	0	0.002852	0	0
COL4A5	1287	broad.mit.edu	37	X	107840717	107840717	+	Silent	SNP	T	T	C	rs143442986		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:107840717T>C	ENST00000328300.6	+	24	1942	c.1698T>C	c.(1696-1698)ccT>ccC	p.P566P	COL4A5_ENST00000361603.2_Silent_p.P566P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	566	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGTTCCCCTGGAGCTCCAG	0.537000									Alport syndrome with Diffuse Leiomyomatosis				6	96					0	0	0.001984	0	0
PYGL	5836	broad.mit.edu	37	14	51378916	51378916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:51378916G>A	ENST00000216392.7	-	14	2058	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PYGL_ENST00000532462.1_Nonsense_Mutation_p.R576*|PYGL_ENST00000544180.2_Nonsense_Mutation_p.R542*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	576					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AAGAGCTGTCGCTTGTACTCA	0.493000													6	238					0	0	0.001168	0	0
CTR9	9646	broad.mit.edu	37	11	10783517	10783517	+	Silent	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr11:10783517C>T	ENST00000361367.2	+	7	1191	c.765C>T	c.(763-765)gtC>gtT	p.V255V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	255					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAAATGGTGTCCAGCTTCTTT	0.343000													10	55					0	0	0.000978	0	0
NRCAM	4897	broad.mit.edu	37	7	107791186	107791186	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:107791186A>C	ENST00000379022.4	-	34	4160	c.3690T>G	c.(3688-3690)ttT>ttG	p.F1230L	NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000425651.2_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379028.3_Intron			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	0					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGAAGAAACAAATGAAAACA	0.289000													10	31					0	0	0.000978	0	0
GPR176	11245	broad.mit.edu	37	15	40093791	40093791	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr15:40093791G>A	ENST00000299092.3	-	4	1285	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	GPR176_ENST00000561100.1_Missense_Mutation_p.R364C|GPR176_ENST00000543580.1_Missense_Mutation_p.R319C	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	364					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTACCCGAGCGTATGCTGGGT	0.567000													4	164					0	0	0.000248	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000													4	157					0	0	0.000248	0	0
SOGA2	23255	broad.mit.edu	37	18	8825636	8825636	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr18:8825636G>T	ENST00000359865.3	+	15	4270	c.4128G>T	c.(4126-4128)aaG>aaT	p.K1376N	SOGA2_ENST00000306329.11_Missense_Mutation_p.K1695N|SOGA2_ENST00000518815.1_Missense_Mutation_p.K701N|SOGA2_ENST00000517570.1_Missense_Mutation_p.K1335N|SOGA2_ENST00000306285.7_Missense_Mutation_p.K701N|SOGA2_ENST00000400050.3_Missense_Mutation_p.K1335N	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1686																	CCATCGAGAAGGTGCAGGCCA	0.602000													8	25					0.000274275	0.00032096	0.004482	1	0
CDH12	1010	broad.mit.edu	37	5	21752212	21752212	+	Silent	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:21752212G>A	ENST00000382254.1	-	15	3105	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Silent_p.F673F|CDH12_ENST00000522262.1_Silent_p.F633F|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	673					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCCCGATGTCGAAAGCCTGGG	0.463000										HNSCC(59;0.17)			14	83					0	0	0.003163	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								25	71					0	0	0.004656	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	19					0	0	0.004007	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64719804	64719804	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:64719804G>T	ENST00000338957.4	+	4	1092	c.1025G>T	c.(1024-1026)aGc>aTc	p.S342I	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.S331I	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	331							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACGGCCCAAGCCTTGAAAAT	0.443000													59	261					1.42676e-28	1.91395e-28	0.003610	1	0
CNGB3	54714	broad.mit.edu	37	8	87683282	87683282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr8:87683282G>A	ENST00000320005.5	-	4	430	c.383C>T	c.(382-384)gCc>gTc	p.A128V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	128					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGGGCATCGGCATACTCATT	0.453000													6	443					0	0	0.001984	0	0
NLGN1	22871	broad.mit.edu	37	3	173997002	173997002	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr3:173997002A>T	ENST00000457714.1	+	6	1640	c.1211A>T	c.(1210-1212)gAt>gTt	p.D404V	NLGN1_ENST00000545397.1_Missense_Mutation_p.D404V|NLGN1_ENST00000401917.3_Missense_Mutation_p.D444V|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.D404V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	421					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATAGCGATGATGGTATATCA	0.328000													4	115					0	0	0.000602	0	0
KANSL3	55683	broad.mit.edu	37	2	97267954	97267954	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:97267954C>T	ENST00000599854.1	-	19	2587	c.2120G>A	c.(2119-2121)gGt>gAt	p.G707D	KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.G614D|KANSL3_ENST00000431828.1_Missense_Mutation_p.G794D	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	820	Ser-rich.		V -> I (in dbSNP:rs34406082).														GGGCTTCCCACCAGGAGTGGC	0.617000													8	17					0	0	0.003080	0	0
BORA	79866	broad.mit.edu	37	13	73303185	73303185	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr13:73303185A>C	ENST00000390667.5	+	2	204	c.107A>C	c.(106-108)gAa>gCa	p.E36A	BORA_ENST00000377815.3_Missense_Mutation_p.N2H|BORA_ENST00000464754.1_3'UTR	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	36					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										AATCTCCATGAACAAACTCTC	0.328000													61	264					0	0	0.003610	0	0
FCGR1A	2209	broad.mit.edu	37	1	149755784	149755784	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:149755784G>A	ENST00000369168.4	+	3	332	c.278G>A	c.(277-279)aGt>aAt	p.S93N	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	93	Ig-like C2-type 1.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAGGGCGAAGTGACCCCATA	0.547000													30	105					0	0	0.004289	0	0
COL24A1	255631	broad.mit.edu	37	1	86590808	86590808	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:86590808G>T	ENST00000370571.2	-	3	1577	c.1211C>A	c.(1210-1212)aCa>aAa	p.T404K	COL24A1_ENST00000436319.1_Missense_Mutation_p.T404K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	404					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTAGTAATTGTATCTTGTTT	0.348000													14	61					2.62699e-14	3.3601e-14	0.003163	1	0
FASTKD1	79675	broad.mit.edu	37	2	170428527	170428527	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:170428527G>C	ENST00000453153.2	-	2	359	c.13C>G	c.(13-15)Cct>Gct	p.P5A	FASTKD1_ENST00000453929.2_Missense_Mutation_p.P5A	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	5					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AGGAAAACAGGTGTTTTTTTC	0.373000													10	41					0	0	0.006214	0	0
RADIL	55698	broad.mit.edu	37	7	4855893	4855893	+	Silent	SNP	G	G	A			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:4855893G>A	ENST00000399583.3	-	8	2119	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	RADIL_ENST00000538469.1_Silent_p.S404S|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	644	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCAGTGTCCCGGAGAAGAAGA	0.657000													16	49					0	0	0.006122	0	0
MXRA5	25878	broad.mit.edu	37	X	3240116	3240116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:3240116C>T	ENST00000217939.6	-	5	3764	c.3610G>A	c.(3610-3612)Gct>Act	p.A1204T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1204						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)				TCCACCCAAGCTGTAGGAACC	0.458000													5	182					0	0	0.000602	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225658	61225658	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr18:61225658A>T	ENST00000382768.1	+	2	242	c.242A>T	c.(241-243)aAa>aTa	p.K81I	SERPINB12_ENST00000269491.1_Splice_Site_p.K81I			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	81					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AACAAACAAAAAGTGCTGGCT	0.463000													23	76					0	0	0.004656	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													7	78					0	0	0.003080	0	0
ADC	113451	broad.mit.edu	37	1	33560160	33560160	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:33560160G>C	ENST00000294517.6	+	8	1186	c.599G>C	c.(598-600)gGc>gCc	p.G200A	ADC_ENST00000358680.3_Intron|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.G200A|ADC_ENST00000373440.1_Intron|ADC_ENST00000373443.3_Missense_Mutation_p.G200A|ADC_ENST00000373441.1_Missense_Mutation_p.G200A	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	200					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TTTCACATTGGCAGTGGCTGT	0.587000													24	90					0	0	0.003330	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413659	105413659	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:105413659C>T	ENST00000333244.5	-	7	8248	c.8129G>A	c.(8128-8130)gGc>gAc	p.G2710D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2710						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCACCTGGCCAGCCTGGAC	0.607000													88	234					0	0	0.003610	0	0
LY9	4063	broad.mit.edu	37	1	160783602	160783602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:160783602C>T	ENST00000368037.5	+	3	745	c.631C>T	c.(631-633)Cga>Tga	p.R211*	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000263285.6_Nonsense_Mutation_p.R211*|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Nonsense_Mutation_p.R211*|LY9_ENST00000392203.4_Nonsense_Mutation_p.R211*|LY9_ENST00000368041.2_Nonsense_Mutation_p.R171*	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACCGTCTCCCGAACACCATG	0.572000													65	266					0	0	0.003610	0	0
BTNL8	79908	broad.mit.edu	37	5	180338425	180338425	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:180338425C>T	ENST00000231229.4	+	3	718	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	BTNL8_ENST00000511704.1_Missense_Mutation_p.R46W|BTNL8_ENST00000400707.3_Missense_Mutation_p.R37W|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000340184.4_Missense_Mutation_p.R162W|BTNL8_ENST00000508408.1_Missense_Mutation_p.R162W|BTNL8_ENST00000533815.2_5'UTR	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	162	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTTCCCCCGGCCCACAGC	0.527000													80	358					0	0	0.003610	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													7	15	---	---	---	---					
ERBB2IP	55914	broad.mit.edu	37	5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggafs	p.G907fs	ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTTGATGGAAAAAATATAG	0.378													7	2068	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													9	206	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													5	10	---	---	---	---					
C17orf82	388407	broad.mit.edu	37	17	59489871	59489877	+	Frame_Shift_Del	DEL	GGCCTCG	GGCCTCG	-			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr17:59489871_59489877delGGCCTCG	ENST00000335108.2	+	1	760_766	c.535_541delGGCCTCG	c.(535-543)ggcctcgggfs	p.GLG179fs		NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	179										cervix(1)|lung(1)	2						AGCCCGCCCAGGCCTCGGGCCTCGGCA	0.734													4	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939056	76939060	+	Frame_Shift_Del	DEL	ATTTA	ATTTA	-			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:76939056_76939060delATTTA	ENST00000373344.5	-	9	1902_1906	c.1688_1692delTAAAT	c.(1687-1692)ttaaatfs	p.LN563fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.LN525fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	563					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTGAAGAAATATTTAATTTTACAGA	0.351			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						75	356	---	---	---	---					
