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
ACAD10	80724	broad.mit.edu	37	12	112186219	112186219	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr12:112186219G>T	ENST00000455480.2	+	18	2854	c.2677G>T	c.(2677-2679)Gat>Tat	p.D893Y	ACAD10_ENST00000313698.4_Missense_Mutation_p.D862Y|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.D464Y	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	862							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGTTCCCATGGATACCCCAGG	0.562000													17	51					3.32936e-07	3.63203e-07	1	1	0
TP73-AS1	0	broad.mit.edu	37	1	3662338	3662338	+	RNA	SNP	C	C	T	rs74910456		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:3662338C>T	ENST00000452079.1	-	0	1548				TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA	NR_033711.1																						GCCGGGCTCCCGAAGCCCACC	0.642000													3	20					0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39395664	39395664	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr19:39395664C>G	ENST00000572515.1	+	2	270	c.189C>G	c.(187-189)caC>caG	p.H63Q	NFKBIB_ENST00000313582.5_Missense_Mutation_p.H63Q|NFKBIB_ENST00000392079.3_Intron			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	63					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCACTGCACTTGGCTGTGA	0.532000													4	212					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70411669	70411669	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr10:70411669C>A	ENST00000373644.4	+	5	4552	c.4343C>A	c.(4342-4344)gCt>gAt	p.A1448D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1448					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGTGTTGCTGCTGTCAGGGAA	0.408000													8	86					1.12685e-05	1.20197e-05	1	1	0
PHACTR4	65979	broad.mit.edu	37	1	28764899	28764899	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:28764899G>T	ENST00000373836.3	+	1	218	c.4G>T	c.(4-6)Gga>Tga	p.G2*	PHACTR4_ENST00000373839.3_Intron|PHACTR4_ENST00000493669.1_Intron	NM_023923.3	NP_076412.3	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	0							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TATAATCATGGGACAAGCTGA	0.413000													8	27					0.000274275	0.000280111	1	1	0
AGER	177	broad.mit.edu	37	6	32151419	32151419	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr6:32151419C>T	ENST00000375076.4	-	3	369	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	AGER_ENST00000538695.1_Missense_Mutation_p.G90R|AGER_ENST00000375070.3_Missense_Mutation_p.G121R|AGER_ENST00000375065.5_Missense_Mutation_p.G90R|AGER_ENST00000375055.2_Missense_Mutation_p.G90R|AGER_ENST00000438221.2_Missense_Mutation_p.G90R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.G76R|AGER_ENST00000375069.3_5'UTR	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	90	Ig-like V-type.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTGGATCCCGACAGCCGGA	0.587000													7	74					0	0	1	0	0
SUN2	25777	broad.mit.edu	37	22	39141779	39141779	+	Silent	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr22:39141779G>A	ENST00000405510.1	-	9	1081	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SUN2_ENST00000411587.2_Silent_p.F230F|SUN2_ENST00000406622.1_Silent_p.F241F|SUN2_ENST00000405018.1_Silent_p.F262F|SUN2_ENST00000216064.4_Silent_p.F241F|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	241					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						AAGCAGGGTGGAATGTCTGCA	0.612000													4	11					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10353814	10353814	+	Silent	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr17:10353814G>A	ENST00000255381.2	-	30	4247	c.4137C>T	c.(4135-4137)taC>taT	p.Y1379Y	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1379					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGTCCGTCTCGTACTTGGTCC	0.557000													5	116					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74472523	74472523	+	Silent	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr15:74472523G>A	ENST00000323940.5	-	19	2147	c.1902C>T	c.(1900-1902)cgC>cgT	p.R634R	STRA6_ENST00000574278.1_Silent_p.R649R|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000449139.2_Silent_p.R634R|STRA6_ENST00000563965.1_Silent_p.R673R|STRA6_ENST00000535552.1_Silent_p.R671R|STRA6_ENST00000423167.2_Silent_p.R625R|STRA6_ENST00000416286.3_Silent_p.R626R|STRA6_ENST00000395105.4_Silent_p.R634R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	634					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GAGCCCTGCCGCGGCTGGCCC	0.632000													24	100					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21450761	21450761	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chrX:21450761C>A	ENST00000425654.2	+	3	740	c.260C>A	c.(259-261)aCc>aAc	p.T87N	CNKSR2_ENST00000379510.3_Missense_Mutation_p.T87N|CNKSR2_ENST00000543067.1_Missense_Mutation_p.T87N|CNKSR2_ENST00000279451.4_Missense_Mutation_p.T87N	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	87	CRIC.				regulation of signal transduction	cytoplasm|membrane	protein binding	p.T87N(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATCTAAAAACCCTTTCTCAC	0.328000													6	53					0.0215528	0.0215528	1	1	0
ACSBG1	23205	broad.mit.edu	37	15	78473256	78473256	+	Missense_Mutation	SNP	C	C	T	rs143166464		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr15:78473256C>T	ENST00000258873.4	-	9	1299	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	ACSBG1_ENST00000541759.1_Missense_Mutation_p.R123Q|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R123Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	365					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTCCACCTCCCGCAGCGTGTT	0.647000													10	24					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090586	91090586	+	Missense_Mutation	SNP	A	A	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chrX:91090586A>T	ENST00000373094.1	+	1	928	c.83A>T	c.(82-84)tAc>tTc	p.Y28F	PCDH11X_ENST00000395337.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.Y28F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	28	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAGAAAAACTACACCATCCGA	0.488000													15	21					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324525	152324525	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:152324525A>C	ENST00000388718.5	-	3	5809	c.5737T>G	c.(5737-5739)Tcc>Gcc	p.S1913A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1913							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACTGTGGATTCTGACTCT	0.512000													4	249					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869898	151869898	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chrX:151869898G>T	ENST00000329342.5	+	3	813	c.588G>T	c.(586-588)atG>atT	p.M196I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	196	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAGATCATGCCCAAGACAG	0.557000													43	46					6.2361e-21	6.96123e-21	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414313	20414313	+	Silent	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								4	103					0	0	1	0	0
RP11-204M4.2	0	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373000													5	60					8.12818e-05	8.48158e-05	1	1	0
HAPLN1	1404	broad.mit.edu	37	5	82948496	82948496	+	Missense_Mutation	SNP	T	T	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr5:82948496T>A	ENST00000274341.4	-	3	1098	c.248A>T	c.(247-249)aAg>aTg	p.K83M	HAPLN1_ENST00000514416.1_Missense_Mutation_p.K83M	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	83	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CGAAGTTAGCTTGGTCCACTT	0.423000													4	95					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14489110	14489110	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr3:14489110G>A	ENST00000454876.2	+	5	714	c.385G>A	c.(385-387)Gta>Ata	p.V129I	SLC6A6_ENST00000416216.2_Missense_Mutation_p.V129I|SLC6A6_ENST00000360861.3_Missense_Mutation_p.V129I|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	129					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TGCCTCCGTTGTAATTGTGTC	0.547000													11	431					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													4	31					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4927021	4927021	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr17:4927021C>T	ENST00000320785.5	+	23	3244	c.2887C>T	c.(2887-2889)Cgc>Tgc	p.R963C		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	963					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	p.R963C(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CGGGGGGCTGCGCAGGCCCCC	0.697000													7	19					0	0	1	0	0
TEKT4P2	0	broad.mit.edu	37	21	9907345	9907345	+	RNA	SNP	C	C	T	rs4023128	by1000genomes	TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr21:9907345C>T	ENST00000416067.1	-	0	1447					NR_037872.1|NR_038327.1																						ATGGCAGTGACGTCCTTCTCC	0.577000													6	11					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172278018	172278018	+	Nonstop_Mutation	SNP	G	G	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:172278018G>C	ENST00000520906.1	+	16	2048	c.1920G>C	c.(1918-1920)taG>taC	p.*640Y	DNM3_ENST00000358155.4_Intron|DNM3_ENST00000367731.1_Intron|DNM3_ENST00000355305.5_Intron			Q9UQ16	DYN3_HUMAN	dynamin 3	0					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATTATTATTAGCTATGCTTAA	0.338000													4	11					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49233652	49233652	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr12:49233652T>C	ENST00000308025.3	-	5	534	c.455A>G	c.(454-456)aAg>aGg	p.K152R	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	152	Glu-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTCCTCAGCCTTTTTCTTGGC	0.463000													3	38					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104140091	104140091	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr10:104140091A>G	ENST00000369983.3	+	37	5221	c.4961A>G	c.(4960-4962)tAc>tGc	p.Y1654C		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1654					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGGACAAGTACATGCACGCA	0.577000													20	63					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65627682	65627682	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr15:65627682G>A	ENST00000327987.4	-	4	883	c.632C>T	c.(631-633)gCc>gTc	p.A211V		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	211	Ig-like C2-type 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGTTTGAGGCCACACAGTG	0.597000													8	49					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10586309	10586309	+	Silent	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr6:10586309G>A	ENST00000265012.4	+	1	331	c.87G>A	c.(85-87)ccG>ccA	p.P29P	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	30						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AATTGAGCCCGCCAAAAAGTT	0.403000													4	116					0	0	1	0	0
MINA	84864	broad.mit.edu	37	3	97668717	97668717	+	Missense_Mutation	SNP	G	G	A	rs149644546		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr3:97668717G>A	ENST00000333396.6	-	7	1613	c.1031C>T	c.(1030-1032)gCg>gTg	p.A344V	MINA_ENST00000360258.4_Missense_Mutation_p.A343V|MINA_ENST00000394198.2_Missense_Mutation_p.A344V	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	344					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCCATCTCCCGCAGAGTAAGG	0.517000													10	46					0	0	1	0	0
CHMP3	51652	broad.mit.edu	37	2	86790451	86790451	+	Silent	SNP	G	G	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr2:86790451G>C	ENST00000263856.4	-	1	149	c.21C>G	c.(19-21)acC>acG	p.T7T	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000409727.1_Silent_p.T7T|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000409225.2_5'UTR	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1			charged multivesicular body protein 3																		GCTTCTCCTGGGTCTTTCCAA	0.622000													5	128					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127429204	127429204	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr10:127429204A>C	ENST00000337623.3	+	15	2157	c.2052A>C	c.(2050-2052)ttA>ttC	p.L684F	C10orf137_ENST00000356792.4_Missense_Mutation_p.L718F	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACATTAAATTAGCTTTGCAAA	0.393000													30	93					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458000										Prostate(2;0.17)			10	136					0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22974075	22974075	+	Silent	SNP	C	C	T	rs150732699		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:22974075C>T	ENST00000374639.3	+	3	655	c.537C>T	c.(535-537)tgC>tgT	p.C179C	C1QC_ENST00000374637.1_Silent_p.C179C|C1QC_ENST00000374640.4_Silent_p.C179C	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	179	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAACCTGTGCGTGCTGCTGT	0.582000													9	54					0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92595245	92595245	+	Splice_Site	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:92595245G>A	ENST00000370382.3	+	5	931	c.662_splice	c.e5-1	p.A222_splice	BTBD8_ENST00000342818.3_Splice_Site_p.A222_splice|BTBD8_ENST00000540648.1_Splice_Site_p.A222_splice			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	222	BTB 2.					nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TCCCTTTAGGGCCATTTTGAG	0.358000													3	30					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137802991	137802991	+	Missense_Mutation	SNP	C	C	T	rs149439264	byFrequency	TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr9:137802991C>T	ENST00000371806.3	-	8	812	c.721G>A	c.(721-723)Ggg>Agg	p.G241R		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	241	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.G241R(2)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCACTGCCCCCGACAAAGGCT	0.582000													42	136					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73719406	73719406	+	Silent	SNP	C	C	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr14:73719406C>T	ENST00000427855.1	+	11	1119	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	PAPLN_ENST00000555445.1_Silent_p.P339P|PAPLN_ENST00000554301.1_Silent_p.P339P|PAPLN_ENST00000340738.5_Silent_p.P312P|PAPLN_ENST00000381166.3_Silent_p.P339P			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	339	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGCCTACCCCGACCACATGT	0.647000													12	50					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292870	33292870	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr14:33292870G>A	ENST00000280979.4	+	13	6021	c.5851G>A	c.(5851-5853)Gaa>Aaa	p.E1951K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1951					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGCTGGCAAGGAATTTGTTTC	0.378000													15	73					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361505	70361505	+	Silent	SNP	C	C	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr4:70361505C>T	ENST00000305107.6	-	1	121	c.75G>A	c.(73-75)aaG>aaA	p.K25K	UGT2B4_ENST00000512583.1_Silent_p.K25K|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	25					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACACCAGCACCTTTCCACAAC	0.453000													7	231					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198711392	198711392	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:198711392G>A	ENST00000367376.2	+	25	2758	c.2587G>A	c.(2587-2589)Gga>Aga	p.G863R	PTPRC_ENST00000348564.6_Missense_Mutation_p.G704R|PTPRC_ENST00000594404.1_Missense_Mutation_p.G702R|PTPRC_ENST00000442510.2_Missense_Mutation_p.G865R|PTPRC_ENST00000352140.3_Missense_Mutation_p.G815R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	863	Tyrosine-protein phosphatase 1.		G -> R (in a breast cancer sample; somatic mutation).		axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.G863R(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCTATATCGGAATTGATGC	0.463000													18	85					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr7:57187809T>G	ENST00000331162.4	-	5	1583	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATTTGTAGGGTCT	0.453000													3	70					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs67907220		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)del	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761													6	8	---	---	---	---					
PKHD1	5314	broad.mit.edu	37	6	51882246	51882251	+	In_Frame_Del	DEL	TGCCCA	TGCCCA	-			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr6:51882246_51882251delTGCCCA	ENST00000371117.3	-	34	5832_5837	c.5557_5562delTGGGCA	c.(5557-5562)del	p.WA1853del	PKHD1_ENST00000340994.4_In_Frame_Del_p.WA1853del	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1853					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.W1853L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACATTGACTCTGCCCAATGATCTGGC	0.490													15	70	---	---	---	---					
EXT1	2131	broad.mit.edu	37	8	118831983	118831983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr8:118831983delG	ENST00000378204.2	-	6	2274	c.1468delC	c.(1468-1470)tgfs	p.L490fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	490					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGAGAGACCAGGGGGGTCACC	0.547			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				13	84	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26714879	26714879	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr12:26714879delT	ENST00000381340.3	-	35	5053	c.4637delA	c.(4636-4638)atfs	p.N1546fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1546					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AATTCCACGATTTTTTGCTGA	0.318													7	26	---	---	---	---