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
MTA2	9219	broad.mit.edu	37	11	62362837	62362837	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr11:62362837A>G	ENST00000278823.2	-	14	1771	c.1382T>C	c.(1381-1383)cTg>cCg	p.L461P	MTA2_ENST00000527204.1_Missense_Mutation_p.L288P|MTA2_ENST00000524902.1_Missense_Mutation_p.L288P	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	461					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AAGACGGGTCAGCTTTGTGGT	0.537000													12	99					0	0	0.080935	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655071	31655071	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr21:31655071G>T	ENST00000340345.4	-	1	205	c.180C>A	c.(178-180)taC>taA	p.Y60*		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	60						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ATTCTTGGCAGTAATCCAGGA	0.512000													7	82					5.68852e-11	8.76033e-11	0.047766	1	0
SUPT6H	6830	broad.mit.edu	37	17	27003436	27003436	+	Silent	SNP	T	T	G			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr17:27003436T>G	ENST00000314616.6	+	7	1168	c.885T>G	c.(883-885)ccT>ccG	p.P295P	SUPT6H_ENST00000347486.4_Silent_p.P295P	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	295					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CTGACCTGCCTGAGAGGTTCC	0.463000													5	71					0	0	0.021553	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48558162	48558162	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr19:48558162G>A	ENST00000354276.3	-	15	1729	c.1402C>T	c.(1402-1404)Ccc>Tcc	p.P468S	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.P468S|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.P478S|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.P468S	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	468	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.P468T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTGAACAGGGGAAAATGCATC	0.517000													10	83					0	0	0.069234	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092804	30092804	+	RNA	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr18:30092804C>T	ENST00000567636.1	+	0	1179					NR_003558.1																						CTTCGTATGGCAGGTCAAGAA	0.433000													6	37					0	0	0.021553	0	0
SAMHD1	25939	broad.mit.edu	37	20	35533856	35533856	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr20:35533856C>T	ENST00000262878.4	-	12	1520	c.1321G>A	c.(1321-1323)Gca>Aca	p.A441T		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	441					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATCTCTCGTGCGTCTTTCAAT	0.318000													6	61					0	0	0.021553	0	0
OGDHL	55753	broad.mit.edu	37	10	50964886	50964886	+	Missense_Mutation	SNP	C	C	T	rs145127820	by1000genomes	TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr10:50964886C>T	ENST00000374103.4	-	3	396	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	OGDHL_ENST00000419399.1_Intron|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	104					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTCTTGGTCCGACTTGAGAC	0.612000													8	57					0	0	0.058154	0	0
TESPA1	9840	broad.mit.edu	37	12	55368298	55368298	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr12:55368298A>G	ENST00000449076.1	-	2	181	c.49T>C	c.(49-51)Tgg>Cgg	p.W17R	TESPA1_ENST00000316577.8_Missense_Mutation_p.W17R	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	17																	TGACGGAGCCAGGCCCGCCGT	0.632000													4	9					0	0	0.009096	0	0
ZNF200	7752	broad.mit.edu	37	16	3274335	3274335	+	Silent	SNP	T	T	G			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr16:3274335T>G	ENST00000431561.3	-	5	1357	c.745A>C	c.(745-747)Agg>Cgg	p.R249R	ZNF200_ENST00000396871.4_Silent_p.R248R|ZNF200_ENST00000414144.2_Silent_p.R249R|ZNF200_ENST00000575948.1_Silent_p.R248R|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396868.3_Silent_p.R248R|ZNF200_ENST00000396870.4_Silent_p.R248R	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TACCATCTCCTTGTCCTCCGA	0.418000													7	65					0	0	0.029380	0	0
GDF9	2661	broad.mit.edu	37	5	132199850	132199850	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr5:132199850C>T	ENST00000378673.2	-	2	1242	c.376G>A	c.(376-378)Gct>Act	p.A126T	GDF9_ENST00000464378.1_5'UTR|GDF9_ENST00000296875.2_Missense_Mutation_p.A126T			O60383	GDF9_HUMAN	growth differentiation factor 9	126					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTCCAGGAGCCTGCTTGTGC	0.468000													11	83					0	0	0.093190	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864641	30864641	+	Missense_Mutation	SNP	G	G	A	rs116683933	by1000genomes	TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr22:30864641G>A	ENST00000403066.1	-	6	383	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C	SEC14L3_ENST00000540910.1_Missense_Mutation_p.R16C|SEC14L3_ENST00000539629.1_Missense_Mutation_p.R34C|SEC14L3_ENST00000415957.2_Missense_Mutation_p.R34C|SEC14L3_ENST00000402286.1_Missense_Mutation_p.R16C|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R93C|SEC14L3_ENST00000401751.1_Missense_Mutation_p.R34C			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	93						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CAGCCATCACGGTCATAGCCA	0.547000													6	105					0	0	0.029380	0	0
PYGM	5837	broad.mit.edu	37	11	64521112	64521112	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr11:64521112G>A	ENST00000164139.3	-	11	1680	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	PYGM_ENST00000377432.3_Missense_Mutation_p.R340C	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	428					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCGACATGCGCCGCAGCCGG	0.687000													4	14					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179397281	179397281	+	Silent	SNP	A	A	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr2:179397281A>T	ENST00000589042.1	-	358	104285	c.104061T>A	c.(104059-104061)ctT>ctA	p.L34687L	TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Silent_p.L32119L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.L25814L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Silent_p.L25622L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Silent_p.L25747L|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.L33046L|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33046							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTAACTCAAGCTCTTCTT	0.473000													10	91					0	0	0.058154	0	0
AP2A1	160	broad.mit.edu	37	19	50306626	50306626	+	Silent	SNP	C	C	G			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr19:50306626C>G	ENST00000354293.5	+	18	2503	c.2337C>G	c.(2335-2337)ctC>ctG	p.L779L	AP2A1_ENST00000359032.5_Silent_p.L801L	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	801					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CGGGAGACCTCCAGACTCATA	0.607000													6	24					0	0	0.038147	0	0
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chrX:155255062C>G	ENST00000285718.7	+	0	1367				WASH6P_ENST00000461007.1_RNA																							CACCTTCCCCCCCAGACCCAG	0.627000													4	31					0	0	0.014758	0	0
ADCY9	115	broad.mit.edu	37	16	4165247	4165247	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr16:4165247C>T	ENST00000294016.3	-	2	735	c.197G>A	c.(196-198)cGa>cAa	p.R66Q		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	66					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCCGCCCACTCGCCGGGGGAC	0.667000													5	26					0	0	0.014758	0	0
HECTD4	283450	broad.mit.edu	37	12	112600844	112600844	+	Splice_Site	SNP	A	A	C			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr12:112600844A>C	ENST00000550722.1	-	75	13078		c.e75+1		HECTD4_ENST00000430131.2_Splice_Site|HECTD4_ENST00000377560.5_Splice_Site	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GGAGGGCGGTACCTGCTGTGC	0.617000													5	87					0	0	0.021553	0	0
RYR1	6261	broad.mit.edu	37	19	38933075	38933075	+	Silent	SNP	G	G	C			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr19:38933075G>C	ENST00000355481.4	+	3	383	c.252G>C	c.(250-252)acG>acC	p.T84T	RYR1_ENST00000359596.3_Silent_p.T84T|RYR1_ENST00000360985.3_Silent_p.T84T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	84					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGCTAACACGGTGGAGGCTG	0.667000													4	54					0	0	0.009096	0	0
SPTA1	6708	broad.mit.edu	37	1	158631122	158631122	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr1:158631122G>A	ENST00000368148.3	-	18	2722	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	SPTA1_ENST00000368147.3_Missense_Mutation_p.R848C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	848					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTGAATGCGTGGTTCATGG	0.438000													9	89					0	0	0.047766	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904081	56904081	+	Silent	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr16:56904081C>T	ENST00000438926.2	+	5	704	c.675C>T	c.(673-675)ttC>ttT	p.F225F	SLC12A3_ENST00000563236.1_Silent_p.F225F|SLC12A3_ENST00000262502.5_Silent_p.F224F|SLC12A3_ENST00000566786.1_Silent_p.F224F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	225					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTTTCGCTTTCGCCAATGCCG	0.647000													6	87					0	0	0.029380	0	0
NAV3	89795	broad.mit.edu	37	12	78513568	78513568	+	Missense_Mutation	SNP	G	G	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr12:78513568G>T	ENST00000397909.2	+	15	3765	c.3592G>T	c.(3592-3594)Gac>Tac	p.D1198Y	NAV3_ENST00000228327.6_Missense_Mutation_p.D1198Y|NAV3_ENST00000536525.2_Missense_Mutation_p.D1198Y|NAV3_ENST00000266692.7_Missense_Mutation_p.D1198Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1198	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAACCAAACAGACAAGGAAAA	0.527000										HNSCC(70;0.22)			6	58					0.00116845	0.00163582	0.021553	1	0
RAB11FIP4	84440	broad.mit.edu	37	17	29848989	29848989	+	Missense_Mutation	SNP	T	T	A			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr17:29848989T>A	ENST00000325874.8	+	6	1044	c.815T>A	c.(814-816)gTt>gAt	p.V272D	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.V170D	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	272	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TTGCTAGATGTTTACTGCTCT	0.522000													9	62					0	0	0.047766	0	0
UNC5B	219699	broad.mit.edu	37	10	73047465	73047465	+	Missense_Mutation	SNP	G	G	A			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr10:73047465G>A	ENST00000335350.6	+	6	1260	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	UNC5B_ENST00000373192.4_Missense_Mutation_p.G282R	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	282	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACTCAACGGAGGGGCCTTCTG	0.667000													5	66					0	0	0.014758	0	0
CGGBP1	8545	broad.mit.edu	37	3	88105073	88105073	+	Silent	SNP	A	A	G			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr3:88105073A>G	ENST00000398392.2	-	1	1386	c.54T>C	c.(52-54)gcT>gcC	p.A18A	CGGBP1_ENST00000309534.6_Silent_p.A18A|CGGBP1_ENST00000482016.1_Silent_p.A18A|CGGBP1_ENST00000462901.1_Silent_p.A18A			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TCACATACAAAGCAGTCTTAG	0.428000													4	78					0	0	0.014758	0	0
RHCE	6006	broad.mit.edu	37	1	25718526	25718526	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr1:25718526T>C	ENST00000349320.3	-	6	933	c.545A>G	c.(544-546)aAt>aGt	p.N182S	RHCE_ENST00000294413.7_Missense_Mutation_p.N198S|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000243186.6_Missense_Mutation_p.N198S|RHCE_ENST00000413854.1_Missense_Mutation_p.N198S|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.N182S|RHCE_ENST00000349438.4_Missense_Mutation_p.N198S|RHCE_ENST00000425135.1_Missense_Mutation_p.N198S			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	198			T -> S (in dbSNP:rs1053350).			integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTGATCATTATCCTCCGT	0.527000													5	102					0	0	0.014758	0	0
CHDC2	286464	broad.mit.edu	37	X	36117961	36117961	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chrX:36117961C>T	ENST00000378660.1	+	7	1005	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	CHDC2_ENST00000313548.4_Missense_Mutation_p.R273W					calponin homology domain containing 2																		CTGGAGTAAACGGGCATGGAC	0.333000													5	18					0	0	0.021553	0	0
TMEM67	91147	broad.mit.edu	37	8	94767313	94767313	+	Silent	SNP	C	C	A			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr8:94767313C>A	ENST00000453321.3	+	1	229	c.171C>A	c.(169-171)atC>atA	p.I57I	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	57					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ACTTTGATATCTCCGCCCTCT	0.552000													14	125					0.000219431	0.000318797	0.020292	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107423242	107423242	+	Silent	SNP	G	G	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr2:107423242G>T	ENST00000409382.3	-	6	2092	c.1482C>A	c.(1480-1482)cgC>cgA	p.R494R	ST6GAL2_ENST00000361686.4_Silent_p.R494R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	494					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCATGTTCAGGCGCTGCACCA	0.622000													7	83					8.12818e-05	0.00012036	0.029380	1	0
LCOR	84458	broad.mit.edu	37	10	98711952	98711952	+	Splice_Site	SNP	G	G	C			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr10:98711952G>C	ENST00000540664.1	+	7	874	c.332_splice	c.e7+1	p.G111_splice	LCOR_ENST00000371097.4_Splice_Site_p.G111_splice|LCOR_ENST00000356016.3_Splice_Site_p.G111_splice|LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000371103.3_Splice_Site_p.G111_splice	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TCAAGGGAACGGGTAAGGGAG	0.438000													6	66					0	0	0.029380	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	49					0	0	0.009096	0	0
ROCK1	6093	broad.mit.edu	37	18	18650556	18650556	+	Missense_Mutation	SNP	C	C	A			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr18:18650556C>A	ENST00000399799.1	-	2	1052	c.112G>T	c.(112-114)Gta>Tta	p.V38L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	38					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AAATCATATACCAAAGCATCC	0.294000													4	19					0.000602214	0.000858713	0.014758	1	0
RHOT2	89941	broad.mit.edu	37	16	721945	721945	+	Missense_Mutation	SNP	G	G	C			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr16:721945G>C	ENST00000315082.4	+	13	1154	c.1040G>C	c.(1039-1041)cGc>cCc	p.R347P		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	347					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GAGCTCCCACGCACAGTCCGC	0.697000													8	84					0	0	0.038147	0	0
SCN3A	6328	broad.mit.edu	37	2	165984435	165984435	+	Silent	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr2:165984435C>T	ENST00000360093.3	-	18	3590	c.3099G>A	c.(3097-3099)aaG>aaA	p.K1033K	SCN3A_ENST00000283254.7_Silent_p.K1033K|SCN3A_ENST00000409101.3_Silent_p.K984K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1033						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TAACTTTTGGCTTTCTAAAAA	0.333000													4	60					0	0	0.009096	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717373	2717373	+	Silent	SNP	G	G	A			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr19:2717373G>A	ENST00000323469.4	-	2	615	c.432C>T	c.(430-432)tgC>tgT	p.C144C	DIRAS1_ENST00000585334.1_Silent_p.C144C	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	144					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATGAAAGCGCACTTCCACT	0.622000													13	90					0	0	0.105934	0	0
EPB41L3	23136	broad.mit.edu	37	18	5433980	5433980	+	Missense_Mutation	SNP	T	T	C			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr18:5433980T>C	ENST00000341928.2	-	7	1086	c.746A>G	c.(745-747)tAc>tGc	p.Y249C	EPB41L3_ENST00000540638.2_Missense_Mutation_p.Y249C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.Y249C|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.Y249C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.Y249C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	249	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCACTAATGTAATCGCTCCC	0.517000													13	119					0	0	0.028581	0	0
NLRP13	126204	broad.mit.edu	37	19	56443372	56443372	+	Silent	SNP	T	T	C			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr19:56443372T>C	ENST00000588751.1	-	1	330	c.306A>G	c.(304-306)agA>agG	p.R102R	NLRP13_ENST00000342929.3_Silent_p.R102R			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	102	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCATCTCGGCTCTAACTTTCT	0.517000													8	33					0	0	0.047766	0	0
MUC16	94025	broad.mit.edu	37	19	9008336	9008336	+	Silent	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr19:9008336C>T	ENST00000397910.4	-	41	39419	c.39216G>A	c.(39214-39216)aaG>aaA	p.K13072K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13074	SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCCCCATCCTTCTCAGACC	0.557000													12	123					0	0	0.080935	0	0
ODF2	4957	broad.mit.edu	37	9	131233743	131233743	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr9:131233743A>G	ENST00000303890.5	+	8	1090	c.505A>G	c.(505-507)Acc>Gcc	p.T169A	ODF2_ENST00000372791.3_Missense_Mutation_p.T174A|ODF2_ENST00000448249.3_Missense_Mutation_p.T112A|ODF2_ENST00000444119.2_Missense_Mutation_p.T169A|ODF2_ENST00000434106.2_Missense_Mutation_p.T193A|ODF2_ENST00000393533.2_Missense_Mutation_p.T193A|ODF2_ENST00000372796.4_Missense_Mutation_p.T193A|ODF2_ENST00000372814.3_Missense_Mutation_p.T237A|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372807.5_Missense_Mutation_p.T188A|ODF2_ENST00000546203.1_Missense_Mutation_p.T174A|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000351030.3_Missense_Mutation_p.T188A	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	193					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GAAGGACTTCACCATGTAAGG	0.577000													3	62					0	0	0.004672	0	0
MED12	9968	broad.mit.edu	37	X	70343061	70343061	+	Silent	SNP	G	G	A			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chrX:70343061G>A	ENST00000333646.6	+	11	1801	c.1602G>A	c.(1600-1602)gcG>gcA	p.A534A	MED12_ENST00000374080.3_Silent_p.A534A|MED12_ENST00000374102.1_Silent_p.A534A	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	534					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAGACAGGCGGAGATTGAGG	0.532000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						5	21					0	0	0.021553	0	0
SERPINA5	5104	broad.mit.edu	37	14	95056549	95056549	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr14:95056549C>T	ENST00000329597.7	+	4	1001	c.791C>T	c.(790-792)aCg>aTg	p.T264M	SERPINA5_ENST00000554276.1_Missense_Mutation_p.T264M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.T264M|SERPINA5_ENST00000554866.1_Missense_Mutation_p.T264M	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	264					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.T264M(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GGCAATGCCACGGCTTTGTTC	0.552000													7	34					0	0	0.038147	0	0
SMG5	23381	broad.mit.edu	37	1	156247793	156247793	+	Missense_Mutation	SNP	A	A	G			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr1:156247793A>G	ENST00000361813.5	-	3	364	c.220T>C	c.(220-222)Tat>Cat	p.Y74H	SMG5_ENST00000368267.4_Missense_Mutation_p.Y74H	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	74					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTTCTCCCATAGTCCACTGGG	0.502000													6	67					0	0	0.021553	0	0
HDAC9	9734	broad.mit.edu	37	7	18767353	18767353	+	Missense_Mutation	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr7:18767353C>T	ENST00000406451.3	+	13	2023	c.1873C>T	c.(1873-1875)Cgc>Tgc	p.R625C	HDAC9_ENST00000441542.2_Missense_Mutation_p.R628C|HDAC9_ENST00000432645.2_Missense_Mutation_p.R625C|HDAC9_ENST00000401921.1_Missense_Mutation_p.R584C	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	625					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAATGGACCGCCCCCTCCA	0.527000													3	18					0	0	0.009096	0	0
IGKV1D-13	28902	broad.mit.edu	37	2	90193261	90193261	+	RNA	SNP	G	G	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr2:90193261G>T	ENST00000390275.2	+	0	368																											CAGAAACCAGGGAAAGCTCCT	0.532000													17	146					1.67942e-08	2.53559e-08	0.038395	1	0
RYR1	6261	broad.mit.edu	37	19	38976776	38976776	+	Silent	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr19:38976776C>T	ENST00000355481.4	+	34	5612	c.5481C>T	c.(5479-5481)cgC>cgT	p.R1827R	RYR1_ENST00000359596.3_Silent_p.R1827R|RYR1_ENST00000360985.3_Silent_p.R1827R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1827	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1827R(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCACGCTCGCGACCCCGTCG	0.682000													24	154					0	0	0.069288	0	0
ZAK	51776	broad.mit.edu	37	2	174086116	174086116	+	Missense_Mutation	SNP	A	A	C			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr2:174086116A>C	ENST00000338983.3	+	12	1421	c.1226A>C	c.(1225-1227)aAt>aCt	p.N409T	MLTK_ENST00000539448.1_Missense_Mutation_p.N409T|MLTK_ENST00000375213.3_Intron|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000431503.2_Missense_Mutation_p.N308T|MLK7-AS1_ENST00000423106.2_RNA	NM_133646.2	NP_598407.1																					GCCAAGCAGAATTCTTCCAAA	0.453000													8	59					0	0	0.047766	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247	byFrequency	TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr6:32725559C>T	ENST00000435145.2	-	4	809	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000													3	18					0	0	0.004672	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714930	65714930	+	RNA	SNP	G	G	A			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr11:65714930G>A	ENST00000532620.1	+	0	865							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						ATCGGCGTCCGACAAGCAGGT	0.662000													5	31					0	0	0.021553	0	0
OR4C13	283092	broad.mit.edu	37	11	49974551	49974551	+	Silent	SNP	C	C	T			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr11:49974551C>T	ENST00000555099.1	+	1	609	c.577C>T	c.(577-579)Cta>Tta	p.L193L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TACCCACACTCTAGGACTCTT	0.438000													16	98					0	0	0.024245	0	0
RP11-782C8.1	0	broad.mit.edu	37	1	143223212	143223214	+	RNA	DEL	AAT	AAT	-			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr1:143223212_143223214delAAT	ENST00000438000.1	+	0	147																											GGATACCAACAATAACATTTATG	0.236													4	5	---	---	---	---					
SEC22A	26984	broad.mit.edu	37	3	122990411	122990412	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr3:122990411_122990412delTC	ENST00000309934.4	+	6	1662_1663	c.766_767delTC	c.(766-768)tfs	p.S256fs	SEC22A_ENST00000492595.1_Frame_Shift_Del_p.S256fs|SEC22A_ENST00000481965.2_Frame_Shift_Del_p.NL97fs	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	256					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		GAATGTCAAATCTTTTTTGACT	0.371													9	72	---	---	---	---					
ZNF746	155061	broad.mit.edu	37	7	149174059	149174059	+	Frame_Shift_Del	DEL	T	T	-			TCGA-97-7552-01A-11D-2036-08	TCGA-97-7552-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2747b2f-b56d-4aac-9f62-57dc5bfc7a55	e76af5cd-3b21-4a74-90f1-98d5f09b5496	g.chr7:149174059delT	ENST00000340622.3	-	6	1072	c.792delA	c.(790-792)gcfs	p.A264fs	ZNF746_ENST00000458143.2_Frame_Shift_Del_p.A264fs			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	264					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGTCCGAGCATGCTGAAGAGG	0.612													16	115	---	---	---	---					
