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
OR4C16	219428	broad.mit.edu	37	11	55340183	55340183	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr11:55340183A>T	ENST00000314634.3	+	1	580	c.580A>T	c.(580-582)Aac>Tac	p.N194Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTATGTGGTTAACCTACTCCT	0.448000													11	73					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930873	54930873	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr3:54930873G>A	ENST00000474759.1	+	26	2392	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V688I|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V782I|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V782I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	782						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGGGAGCTTCGTCTACTCGAT	0.562000													5	72					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65385099	65385099	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr11:65385099C>T	ENST00000355703.3	+	5	1038	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	167						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGAGCTGGTGCGGGAGCAGGG	0.617000													3	21					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41526084	41526084	+	Splice_Site	SNP	T	T	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr8:41526084T>C	ENST00000396942.1	-	39	5180		c.e39-2		ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000347528.4_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000265709.8_Splice_Site			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCTGCAGTCTGGGGTCCAGA	0.562000													12	37					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666304	20666304	+	Silent	SNP	T	T	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr14:20666304T>A	ENST00000357366.3	+	1	810	c.810T>A	c.(808-810)gcT>gcA	p.A270A		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTTCAGCAGCTGGGAGAAGAA	0.512000													24	156					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59949628	59949628	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr17:59949628G>C	ENST00000444766.3	-	20	2875	c.2800C>G	c.(2800-2802)Cag>Gag	p.Q934E	INTS2_ENST00000251334.6_Missense_Mutation_p.Q926E	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	934					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAATTTACCTGAGCGGCCAGT	0.393000													4	21					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186064618	186064618	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:186064618G>A	ENST00000271588.4	+	68	10767	c.10538G>A	c.(10537-10539)gGa>gAa	p.G3513E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3513E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3513	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATGAAGCTGGAGAAGTCAGC	0.428000													12	80					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87040282	87040282	+	Silent	SNP	T	T	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:87040282T>A	ENST00000370563.3	+	10	1569	c.1527T>A	c.(1525-1527)atT>atA	p.I509I	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	509						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTGTCATAATTGATAGTACAG	0.393000													11	63					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32845273	32845273	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr19:32845273G>A	ENST00000311921.4	+	2	1729	c.1537G>A	c.(1537-1539)Gcc>Acc	p.A513T	ZNF507_ENST00000544431.1_Missense_Mutation_p.A513T|ZNF507_ENST00000355898.5_Missense_Mutation_p.A513T	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GTTGACAAGAGCCAACCTGGG	0.453000													11	55					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478684	21478684	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr3:21478684C>T	ENST00000281523.2	-	5	969	c.451G>A	c.(451-453)Ggg>Agg	p.G151R	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	151	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCTGGTGTCCCTGCAGTACCG	0.408000													14	65					0	0	1	0	0
PSMD8	5714	broad.mit.edu	37	19	38865493	38865493	+	Silent	SNP	G	G	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr19:38865493G>T	ENST00000215071.4	+	1	318	c.252G>T	c.(250-252)tcG>tcT	p.S84S	PSMD8_ENST00000602911.1_Silent_p.S21S	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	84					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGCAACCTCGGGCGCTGTTC	0.662000													5	15					0.000602214	0.000630665	1	1	0
HTR5A	3361	broad.mit.edu	37	7	154875940	154875940	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr7:154875940G>T	ENST00000287907.2	+	2	1393	c.817G>T	c.(817-819)Gac>Tac	p.D273Y	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	273						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCCAGAAGGGGACACGTGGCG	0.602000													8	45					3.09899e-07	3.52278e-07	1	1	0
QPRT	23475	broad.mit.edu	37	16	29706096	29706096	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr16:29706096C>T	ENST00000395384.4	+	2	286	c.125C>T	c.(124-126)tCg>tTg	p.S42L	QPRT_ENST00000219771.7_Intron|QPRT_ENST00000562473.1_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	42					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GCAGGCCCCTCGCAGGCGGCG	0.652000													21	82					0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49431799	49431799	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr15:49431799G>A	ENST00000388901.5	-	4	371	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	COPS2_ENST00000542928.1_Missense_Mutation_p.R36W|COPS2_ENST00000299259.6_Missense_Mutation_p.R100W	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	100					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTGCACTCCGAATATAGGTC	0.313000													11	43					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105368418	105368418	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr8:105368418A>C	ENST00000297581.2	+	4	1454	c.1405A>C	c.(1405-1407)Aag>Cag	p.K469Q	DCSTAMP_ENST00000517991.1_3'UTR|DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	469					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AAGTGCAGACAAGTCATGAGA	0.448000													9	27					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156815473	156815473	+	Silent	SNP	C	C	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:156815473C>A	ENST00000368195.3	-	10	2508	c.2112G>T	c.(2110-2112)gcG>gcT	p.A704A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	704					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGCCTCTTGCGCCTCCAGCG	0.622000													6	55					5.9392e-07	6.69418e-07	1	1	0
ARMC2	84071	broad.mit.edu	37	6	109285437	109285437	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr6:109285437C>G	ENST00000392644.4	+	16	2375	c.2207C>G	c.(2206-2208)tCt>tGt	p.S736C	ARMC2_ENST00000368972.3_Missense_Mutation_p.S571C|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	736							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ATCTGCTTTTCTGCCTGTGGT	0.463000													11	34					0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131657972	131657972	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr5:131657972G>A	ENST00000200652.3	+	4	922	c.748G>A	c.(748-750)Gct>Act	p.A250T	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	250					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCCACTGTTTGCTTACTTCAT	0.507000													32	81					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21500943	21500943	+	Silent	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr18:21500943G>A	ENST00000313654.9	+	61	8209	c.7968G>A	c.(7966-7968)gtG>gtA	p.V2656V	LAMA3_ENST00000587184.1_Silent_p.V991V|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Silent_p.V2600V|LAMA3_ENST00000269217.6_Silent_p.V1047V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2656	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTCATGGTGAGATACAAAC	0.448000													11	44					0	0	1	0	0
GTSF1	121355	broad.mit.edu	37	12	54857082	54857082	+	Splice_Site	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr12:54857082C>T	ENST00000552397.1	-	4	1014		c.e4-1		GTSF1_ENST00000305879.5_Splice_Site|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_Splice_Site			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1								metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				CAGGATGATTCTGTGGAACCA	0.433000													9	44					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82796885	82796885	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr12:82796885G>A	ENST00000248306.3	+	5	1324	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		CCTCTTATCTGAAGAATTTGA	0.363000													3	31					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7683937	7683937	+	Silent	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr10:7683937C>T	ENST00000256861.6	-	3	330	c.252G>A	c.(250-252)gaG>gaA	p.E84E	ITIH5_ENST00000397145.2_Silent_p.E84E|ITIH5_ENST00000397146.2_Silent_p.E84E|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	84	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.E84E(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCATCTGGAACTCAATGTCCT	0.478000													12	96					0	0	1	0	0
FAM172A	83989	broad.mit.edu	37	5	93388884	93388884	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr5:93388884G>A	ENST00000395965.3	-	3	297	c.155C>T	c.(154-156)cCg>cTg	p.P52L	FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000505869.1_Missense_Mutation_p.P6L|FAM172A_ENST00000509739.1_Missense_Mutation_p.R3C|FAM172A_ENST00000509163.1_Missense_Mutation_p.P6L	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	52						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						ATCAAGAGGCGGTTCATCTTT	0.279000													5	43					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7796516	7796516	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:7796516C>G	ENST00000303635.7	+	13	3386	c.3179C>G	c.(3178-3180)tCa>tGa	p.S1060*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.S1060*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTGATCCACTCAAAGACTTTC	0.587000			T	WWTR1	epitheliod hemangioendothelioma								21	114					0	0	1	0	0
RAB33A	9363	broad.mit.edu	37	X	129306270	129306270	+	Silent	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chrX:129306270G>A	ENST00000257017.4	+	1	648	c.234G>A	c.(232-234)gtG>gtA	p.V78V		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	78					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.V78V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						AGAAGACCGTGGAAATCGAGG	0.622000													18	57					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57440353	57440353	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr12:57440353G>T	ENST00000442789.2	-	9	910	c.623C>A	c.(622-624)gCa>gAa	p.A208E	MYO1A_ENST00000300119.3_Missense_Mutation_p.A208E|MYO1A_ENST00000544473.1_Missense_Mutation_p.A46E	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	208	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTGTTCATCTGCTCCAGCCAG	0.488000													7	68					1.06961e-07	1.23703e-07	1	1	0
RTCA	8634	broad.mit.edu	37	1	100750810	100750810	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:100750810G>C	ENST00000370128.4	+	9	995	c.826G>C	c.(826-828)Gaa>Caa	p.E276Q	RTCA_ENST00000260563.4_Missense_Mutation_p.E289Q	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN	RNA 3'-terminal phosphate cyclase	276					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity										AGTTGGAATTGAAGCTGCCGA	0.333000													11	66					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938258	14938258	+	Missense_Mutation	SNP	G	G	A	rs138181742		TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr19:14938258G>A	ENST00000322301.3	-	2	883	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.R266C			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGTGAGTTGCGGGTGGCAGCA	0.478000													8	78					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179539826	179539826	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr2:179539826T>A	ENST00000589042.1	-	150	34776	c.34552A>T	c.(34552-34554)Aag>Tag	p.K11518*	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.K11144*|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.K10217*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11250	Glu-rich.|Pro-rich.						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)			TCCACCTTCTTAGGCACCTCA	0.358000													4	29					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185997727	185997727	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr3:185997727G>T	ENST00000265022.3	-	9	1244	c.705C>A	c.(703-705)gaC>gaA	p.D235E	DGKG_ENST00000544847.1_Missense_Mutation_p.D235E|DGKG_ENST00000344484.4_Missense_Mutation_p.D235E|DGKG_ENST00000382164.4_Missense_Mutation_p.D235E	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	235	EF-hand 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGCCGTCCCGGTCGTAGTCCA	0.502000													21	162					5.35356e-11	6.41462e-11	1	1	0
RDX	5962	broad.mit.edu	37	11	110104162	110104162	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr11:110104162A>C	ENST00000343115.4	-	13	1706	c.1387T>G	c.(1387-1389)Tta>Gta	p.L463V	RDX_ENST00000405097.1_Missense_Mutation_p.L463V|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.L327V|RDX_ENST00000528900.1_Missense_Mutation_p.L116V|RDX_ENST00000528498.1_Missense_Mutation_p.L463V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	463	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		ACAGTTTTTAACTCTTCTTTG	0.403000													14	89					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49027248	49027248	+	Splice_Site	SNP	G	G	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr13:49027248G>T	ENST00000267163.4	+	18	1952		c.e18+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCAGATATGTAAGCAAAAT	0.338000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	31					1.12685e-05	1.21846e-05	1	1	0
MMP2	4313	broad.mit.edu	37	16	55532291	55532291	+	Missense_Mutation	SNP	G	G	A	rs147336184	by1000genomes	TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr16:55532291G>A	ENST00000219070.4	+	11	2209	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	MMP2_ENST00000543485.1_Missense_Mutation_p.R491Q|MMP2_ENST00000437642.2_Missense_Mutation_p.R517Q|MMP2_ENST00000570308.1_Missense_Mutation_p.R491Q	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	567	Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GATGTCCAGCGAGTGGATGCC	0.562000													9	53					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53430749	53430749	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chrX:53430749C>G	ENST00000322213.4	-	14	2400	c.2273G>C	c.(2272-2274)cGa>cCa	p.R758P		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	758					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTCCCTCTCTCGGCTCTGAAT	0.517000													7	20					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21550181	21550181	+	Silent	SNP	T	T	G			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chrX:21550181T>G	ENST00000425654.2	+	11	1779	c.1299T>G	c.(1297-1299)acT>acG	p.T433T	CNKSR2_ENST00000379510.3_Silent_p.T433T|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000279451.4_Silent_p.T433T|CNKSR2_ENST00000543067.1_Silent_p.T384T	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	433	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GCACCCCAACTTATGGTAAGA	0.318000													5	24					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690414	33690414	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr17:33690414G>C	ENST00000394566.1	-	4	685	c.413C>G	c.(412-414)aCc>aGc	p.T138S	SLFN11_ENST00000308377.4_Missense_Mutation_p.T138S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	138						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACGCACAGAGGTCTCAGATCT	0.453000													10	74					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39868400	39868400	+	Silent	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr19:39868400G>A	ENST00000314471.6	+	10	2415	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Silent_p.E460E	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	460							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATGGCAGTGAGCCTGCCCCGG	0.637000													9	83					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110584462	110584462	+	Silent	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:110584462G>A	ENST00000369795.3	+	8	886	c.864G>A	c.(862-864)ttG>ttA	p.L288L	STRIP1_ENST00000369796.1_Silent_p.L193L	NM_033088.3	NP_149079.2			striatin interacting protein 1																		AAGTTCTCTTGCTGCTCTGGA	0.488000													24	186					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108339126	108339126	+	Splice_Site	SNP	C	C	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr10:108339126C>A	ENST00000263054.6	-	25	3379		c.e25+1		SORCS1_ENST00000369698.1_Splice_Site|SORCS1_ENST00000344440.6_Splice_Site	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1							integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGGACACGCACCTTTTAAACT	0.527000													4	44					0.00024832	0.000262116	1	1	0
MST1	4485	broad.mit.edu	37	3	49721550	49721550	+	Silent	SNP	G	G	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr3:49721550G>T	ENST00000449682.2	-	18	2450	c.2089C>A	c.(2089-2091)Cga>Aga	p.R697R		NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	683	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGCATACTCGGTTGGGGATT	0.572000													7	59					2.0095e-06	2.22719e-06	1	1	0
DHODH	1723	broad.mit.edu	37	16	72045979	72045979	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr16:72045979G>T	ENST00000572887.1	+	2	229	c.52G>T	c.(52-54)Ggg>Tgg	p.G18W	DHODH_ENST00000219240.4_Missense_Mutation_p.G18W			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	18					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GATCATCCTGGGGGGAGGAGG	0.607000													7	80					0.00307968	0.00317517	1	1	0
SLC27A1	376497	broad.mit.edu	37	19	17611133	17611133	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr19:17611133C>T	ENST00000252595.7	+	8	1350	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	SLC27A1_ENST00000598424.1_Missense_Mutation_p.P239L|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.P418L	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	418	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CACGTGTACCCCATCCGGCTG	0.642000													7	79					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391852	58391852	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr11:58391852A>G	ENST00000361987.4	+	2	540	c.460A>G	c.(460-462)Aag>Gag	p.K154E	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	154					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCTCTTTGAGAAGAAGCTGTG	0.478000													11	78					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43219851	43219851	+	Silent	SNP	G	G	A	rs149305191	byFrequency	TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr18:43219851G>A	ENST00000255226.6	+	7	1800	c.984G>A	c.(982-984)ctG>ctA	p.L328L	SLC14A2_ENST00000586448.1_Silent_p.L328L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	328						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCGTGGGGCTGCTAGCAGGTA	0.532000													5	24					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427752	47427752	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr4:47427752C>A	ENST00000295454.3	+	9	1434	c.1142C>A	c.(1141-1143)tCg>tAg	p.S381*	GABRB1_ENST00000538619.1_Nonsense_Mutation_p.S311*	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	381					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACGAGTGGCTCGGAAGTGCTC	0.597000													4	90					1	1	1	1	0
TAS1R1	80835	broad.mit.edu	37	1	6639581	6639581	+	Silent	SNP	C	C	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:6639581C>A	ENST00000333172.6	+	6	2656	c.2463C>A	c.(2461-2463)ctC>ctA	p.L821L	TAS1R1_ENST00000351136.3_Silent_p.L567L|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	821					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCAGACCTCAACAGCACAG	0.622000													13	95					9.31168e-06	1.01513e-05	1	1	0
NOTUM	147111	broad.mit.edu	37	17	79914937	79914937	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr17:79914937C>T	ENST00000409678.3	-	7	1092	c.709G>A	c.(709-711)Ggg>Agg	p.G237R		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	237						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGGAGCACCCCGGTGCCCCCC	0.687000													6	41					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117826125	117826125	+	Missense_Mutation	SNP	C	C	T	rs144004485		TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr9:117826125C>T	ENST00000350763.4	-	12	4121	c.3710G>A	c.(3709-3711)gGg>gAg	p.G1237E	TNC_ENST00000341037.4_Missense_Mutation_p.G1237E|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.G1237E|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1237	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTGAGTGACCCCGCGGATGGT	0.537000													13	126					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269442	150269442	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr7:150269442C>T	ENST00000255945.2	+	3	459	c.284C>T	c.(283-285)cCc>cTc	p.P95L	GIMAP4_ENST00000461940.1_Missense_Mutation_p.P109L|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	95							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAGAGGTGCCCAATGCTGAA	0.507000													9	68					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186227	5186227	+	Silent	SNP	C	C	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr5:5186227C>A	ENST00000274181.7	+	5	964	c.826C>A	c.(826-828)Cgg>Agg	p.R276R	ADAMTS16_ENST00000511368.1_Silent_p.R276R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	276					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTCTTGCTTACGGCATAAGCG	0.493000													78	119					3.54697e-40	4.32795e-40	1	1	0
VPRBP	9730	broad.mit.edu	37	3	51449904	51449904	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr3:51449904C>A	ENST00000335891.5	-	15	2803	c.2794G>T	c.(2794-2796)Gac>Tac	p.D932Y				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1381					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CATACTGTGTCCATGTTCAGG	0.507000													16	69					1.67942e-08	1.95932e-08	1	1	0
VWF	7450	broad.mit.edu	37	12	6128148	6128148	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr12:6128148C>T	ENST00000261405.5	-	28	4690	c.4436G>A	c.(4435-4437)gGc>gAc	p.G1479D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1479					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GAGCCCCGGGCCCACAGTGAC	0.602000													5	39					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237837486	237837486	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:237837486A>G	ENST00000366574.2	+	59	8998	c.8681A>G	c.(8680-8682)aAg>aGg	p.K2894R	RYR2_ENST00000542537.1_Missense_Mutation_p.K2878R|RYR2_ENST00000360064.6_Missense_Mutation_p.K2892R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2894	4 X approximate repeats.|Calmodulin-binding (Potential).|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATCCTCAAGTTCTTGCAG	0.408000													12	44					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162829412	162829412	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:162829412G>T	ENST00000367912.2	-	2	199	c.25C>A	c.(25-27)Caa>Aaa	p.Q9K	C1orf110_ENST00000367911.2_Missense_Mutation_p.Q5K|C1orf110_ENST00000367910.1_Missense_Mutation_p.Q9K			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110									p.Q9K(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TTATACAATTGTCCCCTGACC	0.443000													10	21					1.58986e-06	1.77691e-06	1	1	0
ARHGAP15	55843	broad.mit.edu	37	2	144194529	144194529	+	Silent	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr2:144194529C>T	ENST00000295095.6	+	8	788	c.621C>T	c.(619-621)atC>atT	p.I207I	AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	207					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TATTCAAAATCCAAAGATCCT	0.338000													9	22					0	0	1	0	0
DRAM2	128338	broad.mit.edu	37	1	111660792	111660792	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:111660792C>T	ENST00000286692.4	-	9	1408	c.791G>A	c.(790-792)aGa>aAa	p.R264K	DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Missense_Mutation_p.R264K			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	264					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						TCAAATATCTCTGGAAAGTAG	0.368000													5	65					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62189368	62189368	+	Silent	SNP	T	T	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr3:62189368T>A	ENST00000474889.1	+	12	2276	c.1899T>A	c.(1897-1899)acT>acA	p.T633T	PTPRG_ENST00000295874.10_Silent_p.T633T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	633					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTAACAGGACTGCCGAGGGAG	0.637000													3	11					0	0	1	0	0
CSAG1	158511	broad.mit.edu	37	X	151908927	151908927	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chrX:151908927A>T	ENST00000370291.2	+	4	446	c.166A>T	c.(166-168)Agg>Tgg	p.R56W	CSAG1_ENST00000452779.2_Splice_Site_p.R56W|CSAG1_ENST00000370287.3_Splice_Site_p.R56W			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	56										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AACACCAAAGAGGCGAGGAAG	0.557000													35	115					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65130274	65130274	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:65130274C>T	ENST00000371073.2	+	15	2188	c.2188C>T	c.(2188-2190)Cgc>Tgc	p.R730C	CACHD1_ENST00000290039.5_Missense_Mutation_p.R679C|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	730					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTACATTGTCCGCCGTTACAT	0.453000													20	101					0	0	1	0	0
PTDSS1	9791	broad.mit.edu	37	8	97307408	97307408	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr8:97307408G>C	ENST00000517309.1	+	5	850	c.524G>C	c.(523-525)gGc>gCc	p.G175A	PTDSS1_ENST00000455950.2_Missense_Mutation_p.G29A|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	175					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CATTTCTGGGGCTGGGCCATG	0.463000													5	48					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33495335	33495335	+	Silent	SNP	C	C	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr17:33495335C>A	ENST00000268876.5	+	10	1504	c.1407C>A	c.(1405-1407)atC>atA	p.I469I	UNC45B_ENST00000378449.1_Silent_p.I469I|UNC45B_ENST00000394570.2_Silent_p.I469I|UNC45B_ENST00000433649.1_Silent_p.I469I|UNC45B_ENST00000591048.1_Silent_p.I469I	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	469					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCAAACAGATCTACAAGACCA	0.572000													9	53					2.17888e-05	2.33702e-05	1	1	0
CNOT2	4848	broad.mit.edu	37	12	70726621	70726621	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr12:70726621G>C	ENST00000229195.3	+	7	1223	c.644G>C	c.(643-645)gGa>gCa	p.G215A	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.G215A	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	215					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATTTTTAATGGAACAGGTAAG	0.323000													6	71					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79852955	79852955	+	Silent	SNP	T	T	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr9:79852955T>C	ENST00000360280.3	+	18	1893	c.1633T>C	c.(1633-1635)Tta>Cta	p.L545L	VPS13A_ENST00000376634.4_Silent_p.L545L|VPS13A_ENST00000376636.3_Silent_p.L545L|VPS13A_ENST00000357409.5_Silent_p.L545L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	545					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATTACTGGCTTACCAGATAA	0.303000													7	68					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55177723	55177723	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr19:55177723G>T	ENST00000391736.1	+	10	1222	c.907G>T	c.(907-909)Ggg>Tgg	p.G303W	LILRB4_ENST00000391733.3_Missense_Mutation_p.G303W|LILRB4_ENST00000430952.2_Missense_Mutation_p.G303W|LILRB4_ENST00000270452.2_Missense_Mutation_p.G303W|LILRB4_ENST00000391734.3_Missense_Mutation_p.G303W	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	303						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ACGTCCTCCAGGGGCTGCCGA	0.592000													10	55					5.50884e-06	6.05517e-06	1	1	0
RHOA	387	broad.mit.edu	37	3	49397743	49397743	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr3:49397743C>T	ENST00000418115.1	-	5	865	c.481G>A	c.(481-483)Gca>Aca	p.A161T	RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	161					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TTGGTCTTTGCTGAACACTCC	0.453000													16	114					0	0	1	0	0
SRPK3	26576	broad.mit.edu	37	X	153050966	153050966	+	Silent	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chrX:153050966C>T	ENST00000489426.1	+	21	4262	c.1896C>T	c.(1894-1896)ctC>ctT	p.L632L	SRPK3_ENST00000370100.1_Silent_p.L490L|SRPK3_ENST00000393786.3_Silent_p.L531L|SRPK3_ENST00000370101.3_Silent_p.L565L|SRPK3_ENST00000370104.1_Silent_p.L564L|SRPK3_ENST00000370108.3_Silent_p.L532L			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	565					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCCCTGGCTCAACCCCTAGG	0.637000													13	74					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137801498	137801498	+	Silent	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr5:137801498C>T	ENST00000239938.4	+	1	320	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	16					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGCTGCAGATCTCTGACCCGT	0.657000													23	54					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476613	110476613	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr8:110476613A>G	ENST00000378402.5	+	49	7656	c.7552A>G	c.(7552-7554)Ata>Gta	p.I2518V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2518					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGGAATATTATATATGATAT	0.363000										HNSCC(38;0.096)			4	23					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185997726	185997726	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr3:185997726G>A	ENST00000265022.3	-	9	1245	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	DGKG_ENST00000544847.1_Missense_Mutation_p.R236W|DGKG_ENST00000344484.4_Missense_Mutation_p.R236W|DGKG_ENST00000382164.4_Missense_Mutation_p.R236W	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	236	EF-hand 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AAGCCGTCCCGGTCGTAGTCC	0.507000													21	160					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463334	26463334	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr10:26463334A>G	ENST00000265944.5	+	30	4307	c.4141A>G	c.(4141-4143)Aca>Gca	p.T1381A	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1381					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGGATTGTCACAACACCAAC	0.393000													13	92					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3319425	3319425	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:3319425G>T	ENST00000378398.3	+	7	832	c.750G>T	c.(748-750)aaG>aaT	p.K250N	PRDM16_ENST00000441472.2_Missense_Mutation_p.K249N|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.K249N|PRDM16_ENST00000378391.2_Missense_Mutation_p.K249N|PRDM16_ENST00000442529.2_Missense_Mutation_p.K249N|PRDM16_ENST00000511072.1_Missense_Mutation_p.K250N|PRDM16_ENST00000514189.1_Missense_Mutation_p.K250N			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	249					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCGCCATAAGAAGTACACGT	0.637000			T	EVI1	"""MDS, AML"""								9	51					3.09899e-07	3.52278e-07	1	1	0
XAB2	56949	broad.mit.edu	37	19	7685557	7685557	+	Splice_Site	SNP	T	T	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr19:7685557T>C	ENST00000358368.4	-	15	2009		c.e15-2		XAB2_ENST00000534844.1_Splice_Site	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2						transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGACAGCACCTGGACACCGGG	0.662000								Direct reversal of damage;Nucleotide excision repair (NER)					8	35					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68137217	68137217	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr8:68137217C>T	ENST00000262215.3	-	29	4518	c.4129G>A	c.(4129-4131)Gtg>Atg	p.V1377M	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.V831M|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.V215M	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1377					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTCACCCACACCCTGTCTTCA	0.378000													11	42					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228486333	228486333	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:228486333G>C	ENST00000570156.2	+	49	13199	c.13125G>C	c.(13123-13125)caG>caC	p.Q4375H	OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q1065H|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3418	Ig-like 45.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGAGCTGCAGATCCATGACC	0.572000													9	85					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95677055	95677055	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr14:95677055G>A	ENST00000298912.4	-	7	883	c.770C>T	c.(769-771)gCc>gTc	p.A257V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	257	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GATGTGCAGGGCATCCTGTGC	0.483000													4	129					0	0	1	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374326	95374326	+	RNA	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr3:95374326C>T	ENST00000494840.1	-	0	1535					NR_077228.1																						TCCCACACACCCCATGGGGTA	0.433000													12	59					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570298	248570298	+	Silent	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:248570298C>T	ENST00000366474.1	+	1	1003	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	335					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACACCCATGCTGAACCCCCT	0.532000													17	173					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113503122	113503122	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr3:113503122T>C	ENST00000273398.3	+	4	371	c.263T>C	c.(262-264)gTa>gCa	p.V88A	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.V55A	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	88					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCTCTCTGTAGAGCTTGGT	0.453000													18	80					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117757	117757	+	Silent	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCGCTTGTGCGGGCTTTGCA	0.652000													5	482					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78195559	78195559	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:78195559C>T	ENST00000370793.1	-	10	1142	c.796G>A	c.(796-798)Ggg>Agg	p.G266R	USP33_ENST00000370792.3_Missense_Mutation_p.G266R|USP33_ENST00000357428.1_Missense_Mutation_p.G266R|USP33_ENST00000370794.3_Missense_Mutation_p.G235R	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	266					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGAGAATACCCCCGAAATGTT	0.313000													8	111					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75109335	75109335	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr2:75109335C>A	ENST00000290573.2	+	12	2408	c.1808C>A	c.(1807-1809)tCc>tAc	p.S603Y	HK2_ENST00000409174.1_Missense_Mutation_p.S575Y	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	603	Catalytic.|Substrate 2 binding.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTTACCTTCTCCTTCCCCTGC	0.552000													18	81					2.4624e-09	2.89822e-09	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5303690	5303690	+	Silent	SNP	A	A	C			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr5:5303690A>C	ENST00000274181.7	+	20	3135	c.2997A>C	c.(2995-2997)tcA>tcC	p.S999S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	999	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCAGTGCTCACACACCTGTG	0.642000													9	108					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254814	24254814	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr8:24254814C>A	ENST00000538205.1	+	7	782	c.235C>A	c.(235-237)Cag>Aag	p.Q79K	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.Q158K|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.Q79K	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	158					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CCAAAGATACCAGATAAAACC	0.423000													4	113					1	1	1	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65197404	65197404	+	Silent	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr14:65197404C>T	ENST00000247226.7	+	3	704	c.396C>T	c.(394-396)ccC>ccT	p.P132P	PLEKHG3_ENST00000394691.1_Silent_p.P188P	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	188	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACAATTACCCCAAGTGAGTAA	0.473000													5	29					0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108066250	108066250	+	Silent	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr6:108066250G>A	ENST00000369022.2	-	4	620	c.411C>T	c.(409-411)agC>agT	p.S137S	SCML4_ENST00000369020.3_Silent_p.S195S|SCML4_ENST00000369021.3_Silent_p.S166S			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CGCACAGGAGGCTTCGGCACA	0.592000													5	50					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93563403	93563403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr15:93563403C>T	ENST00000394196.4	+	38	6136	c.5068C>T	c.(5068-5070)Cga>Tga	p.R1690*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.R1690*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1690					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CGGAAGCTATCGACCCAACAA	0.532000													8	57					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1251110	1251110	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr2:1251110G>A	ENST00000308624.5	+	12	1029	c.900G>A	c.(898-900)atG>atA	p.M300I	SNTG2_ENST00000407292.1_Missense_Mutation_p.M173I	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	300	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TTGTGCATATGGGGTGGGTAA	0.498000													9	26					0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77224939	77224939	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chrX:77224939G>A	ENST00000458128.1	-	1	196	c.197C>T	c.(196-198)aCc>aTc	p.T66I	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	66					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						TGTCCAGAGGGTCCGGATCAC	0.597000													60	79					0	0	1	0	0
YWHAZ	7534	broad.mit.edu	37	8	101960870	101960870	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr8:101960870C>A	ENST00000395957.2	-	3	589	c.248G>T	c.(247-249)aGa>aTa	p.R83I	YWHAZ_ENST00000353245.3_Missense_Mutation_p.R83I|YWHAZ_ENST00000395956.3_Missense_Mutation_p.R83I|YWHAZ_ENST00000395948.2_Missense_Mutation_p.R6I|YWHAZ_ENST00000395951.3_Missense_Mutation_p.R83I|YWHAZ_ENST00000395958.2_Missense_Mutation_p.R83I|YWHAZ_ENST00000457309.1_Missense_Mutation_p.R83I|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000419477.2_Missense_Mutation_p.R83I|YWHAZ_ENST00000395953.2_Missense_Mutation_p.R83I			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	83					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	AATTTTCTCTCTGTATTCTCG	0.433000													32	184					1.36615e-20	1.65179e-20	1	1	0
HERC3	8916	broad.mit.edu	37	4	89591320	89591320	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr4:89591320G>A	ENST00000402738.1	+	16	2067	c.1828G>A	c.(1828-1830)Gat>Aat	p.D610N	HERC3_ENST00000543130.1_Missense_Mutation_p.D54N|HERC3_ENST00000264345.3_Missense_Mutation_p.D610N	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	610					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGTGGAATATGATACATTTTA	0.383000													12	65					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813424	176813424	+	Splice_Site	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr5:176813424G>A	ENST00000324417.5	+	5	480	c.389G>A	c.(388-390)gGg>gAg	p.G130E	SLC34A1_ENST00000512593.1_Splice_Site_p.G130E	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	130					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTCCCCAGGGAAGGTGGCT	0.652000													24	70					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734034	28734034	+	RNA	SNP	G	G	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr14:28734034G>T	ENST00000550043.1	+	0	439																											GAGAAAAACAGCTCACAGTCT	0.453000													7	77					0.00198382	0.00206131	1	1	0
SUPT5H	6829	broad.mit.edu	37	19	39967027	39967027	+	Silent	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr19:39967027C>T	ENST00000599117.1	+	31	3619	c.3252C>T	c.(3250-3252)ctC>ctT	p.L1084L	SUPT5H_ENST00000359191.6_Silent_p.L1080L|SUPT5H_ENST00000432763.2_Silent_p.L1084L|SUPT5H_ENST00000402194.2_Silent_p.L1080L|SUPT5H_ENST00000598725.1_Silent_p.L1084L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	1084					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGGGAAGCTCCTGGAAGCCT	0.582000													11	68					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134990673	134990673	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chrX:134990673G>A	ENST00000535938.1	+	12	1505	c.1338G>A	c.(1336-1338)atG>atA	p.M446I	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.M446I|SAGE1_ENST00000324447.3_Missense_Mutation_p.M446I	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	446										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAGCAAGGATGGAAAATGGCC	0.428000													14	61					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428176	54428176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr17:54428176C>T	ENST00000566473.2	+	4	247	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	ANKFN1_ENST00000318698.2_Nonsense_Mutation_p.Q83*			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	83										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACATCTCTGTCAGTCAAAAAA	0.413000													16	87					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55651071	55651071	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chrX:55651071T>G	ENST00000339140.3	+	1	1239	c.927T>G	c.(925-927)ttT>ttG	p.F309L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	309					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTCTCTCTTTGATCTTTGAA	0.483000													4	19					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139845374	139845374	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr8:139845374C>A	ENST00000303045.6	-	5	1199	c.753G>T	c.(751-753)ttG>ttT	p.L251F	COL22A1_ENST00000435777.1_Missense_Mutation_p.L251F	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	251	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCACACTGAACAAATCCATCA	0.463000										HNSCC(7;0.00092)			12	44					4.36969e-10	5.18901e-10	1	1	0
BPIFA3	128861	broad.mit.edu	37	20	31805399	31805399	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr20:31805399G>T	ENST00000375454.3	+	1	267	c.57G>T	c.(55-57)ttG>ttT	p.L19F	BPIFA3_ENST00000375452.3_Missense_Mutation_p.L19F|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	19						extracellular region	lipid binding										CCTTGCCCTTGGCACCACACA	0.602000													6	92					0.27861	0.282864	1	1	0
FXYD5	53827	broad.mit.edu	37	19	35657215	35657215	+	Silent	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr19:35657215C>T	ENST00000342879.3	+	7	1252	c.474C>T	c.(472-474)atC>atT	p.I158I	FXYD5_ENST00000541435.2_Silent_p.I158I|FXYD5_ENST00000392219.2_Silent_p.I158I|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000588699.1_Silent_p.I158I|FXYD5_ENST00000590686.1_Silent_p.I158I|FXYD5_ENST00000392217.3_Silent_p.I87I|FXYD5_ENST00000543307.1_Silent_p.I158I|FXYD5_ENST00000423817.3_Silent_p.I158I			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	158					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TCACAGGCATCATCATCCTCA	0.567000													25	170					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49409584	49409584	+	Missense_Mutation	SNP	C	C	G	rs148285323		TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr6:49409584C>G	ENST00000274813.3	-	10	1904	c.1777G>C	c.(1777-1779)Gaa>Caa	p.E593Q		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	593					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTTTACTTTCTCCAAATTCC	0.398000													20	99					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47700466	47700466	+	Silent	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr21:47700466C>T	ENST00000397708.1	-	4	1721	c.1467G>A	c.(1465-1467)aaG>aaA	p.K489K	MCM3AP_ENST00000291688.1_Silent_p.K489K			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	489					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTTTCCCCTTCTTTCTAGCCA	0.368000													7	61					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71946371	71946371	+	Silent	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr11:71946371C>T	ENST00000541756.1	+	23	2739	c.1809C>T	c.(1807-1809)atC>atT	p.I603I	INPPL1_ENST00000298229.2_Silent_p.I845I|INPPL1_ENST00000538751.1_Silent_p.I603I			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	845					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AATCCATGATCGGCAGCACGG	0.577000													26	188					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121758210	121758210	+	Missense_Mutation	SNP	G	G	A	rs139334549		TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr12:121758210G>A	ENST00000261819.3	-	12	1614	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L	ANAPC5_ENST00000344395.4_Missense_Mutation_p.P386L|ANAPC5_ENST00000541887.1_Missense_Mutation_p.P485L|ANAPC5_ENST00000535482.1_Missense_Mutation_p.P164L|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P386L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	498					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTATTAGGCGGAAATCGTTC	0.373000													11	81					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413604	72413604	+	Silent	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr7:72413604G>A	ENST00000395270.1	+	14	3318	c.2277G>A	c.(2275-2277)acG>acA	p.T759T	POM121_ENST00000434423.2_Silent_p.T1024T|POM121_ENST00000358357.3_Silent_p.T759T|POM121_ENST00000257622.4_Silent_p.T759T|POM121_ENST00000446813.1_Silent_p.T759T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1024	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACGTGCCTACGCCCATCCATC	0.622000													7	217					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204309586	204309586	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr2:204309586G>A	ENST00000453034.1	-	15	2161	c.1937C>T	c.(1936-1938)aCa>aTa	p.T646I	RAPH1_ENST00000418114.1_Missense_Mutation_p.T594I|RAPH1_ENST00000374488.2_Intron|RAPH1_ENST00000374489.2_Intron|RAPH1_ENST00000374493.3_Intron|RAPH1_ENST00000308091.4_Intron|RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000319170.5_Intron|RAPH1_ENST00000439222.1_Intron|RAPH1_ENST00000423104.1_Intron|RAPH1_ENST00000419464.1_Intron|ABI2_ENST00000295851.5_3'UTR			Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	0					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAACGAAGCTGTTACCTTGCT	0.438000													6	66					0	0	1	0	0
TSPYL4	23270	broad.mit.edu	37	6	116574343	116574343	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr6:116574343T>A	ENST00000420283.1	-	1	918	c.829A>T	c.(829-831)Agg>Tgg	p.R277W		NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	277					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		ATCATGTACCTCAGCATGTCT	0.478000													5	34					0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29165181	29165181	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr2:29165181A>G	ENST00000407426.3	+	16	1794	c.1738A>G	c.(1738-1740)Aca>Gca	p.T580A		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	580						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CTTCCAGGTAACAGCATCAGA	0.463000													4	27					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45004619	45004619	+	Silent	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr7:45004619G>A	ENST00000258787.7	-	18	2587	c.2451C>T	c.(2449-2451)gcC>gcT	p.A817A		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	817						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CCCCCATGGCGGCCACCTTGG	0.657000													20	96					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20506403	20506403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr10:20506403C>T	ENST00000377252.4	+	11	2012	c.1171C>T	c.(1171-1173)Cga>Tga	p.R391*	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.R342*	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2		Thr-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AACTTCTTCTCGAACCACCAC	0.443000													8	42					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62519747	62519747	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr11:62519747C>T	ENST00000394807.3	-	2	1665	c.1540G>A	c.(1540-1542)Gac>Aac	p.D514N		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CGGTAGAGGTCCCCTGACTGC	0.602000													4	44					0	0	1	0	0
SRPK3	26576	broad.mit.edu	37	X	153049630	153049630	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chrX:153049630C>T	ENST00000489426.1	+	16	3676	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	SRPK3_ENST00000370100.1_Missense_Mutation_p.S295F|SRPK3_ENST00000393786.3_Missense_Mutation_p.S336F|SRPK3_ENST00000370101.3_Missense_Mutation_p.S370F|SRPK3_ENST00000370104.1_Missense_Mutation_p.S369F|SRPK3_ENST00000370108.3_Missense_Mutation_p.S337F			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	370	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGGCTCGTCCAATCAGCGA	0.667000													10	53					0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42854137	42854137	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr12:42854137C>T	ENST00000455697.1	-	8	2255	c.1970G>A	c.(1969-1971)cGg>cAg	p.R657Q	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R657Q|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R657Q|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R657Q|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R657Q	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	657	Arg/His-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.R657Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GACGCGTCTCCGAGTCCTTTC	0.507000													10	52					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887480	12887480	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr1:12887480C>T	ENST00000535591.1	-	3	572	c.377G>A	c.(376-378)tGc>tAc	p.C126Y		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	126										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TAGAAGGAGGCAGGTGAGGTA	0.483000													6	419					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6751223	6751223	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr5:6751223G>A	ENST00000230859.6	+	11	1311	c.1182G>A	c.(1180-1182)atG>atA	p.M394I		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	394					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCCTCTCATGGCCGGCTTAC	0.547000													10	149					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762276	130762276	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr6:130762276A>G	ENST00000392429.1	+	2	3087	c.709A>G	c.(709-711)Aag>Gag	p.K237E	TMEM200A_ENST00000545622.1_Missense_Mutation_p.K237E|TMEM200A_ENST00000296978.3_Missense_Mutation_p.K237E	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	237						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AAATGAAGGTAAGAGTTCTGG	0.483000													8	48					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16668542	16668543	+	Frame_Shift_Ins	INS	-	-	AACCAGAG			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr5:16668542_16668543insAACCAGAG	ENST00000513610.1	-	40	6372_6373	c.5918_5919insCTCTGGTT	c.(5917-5919)ttgfs	p.L1973fs	MYO10_ENST00000427430.2_Frame_Shift_Ins_p.L1330fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.L1312fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.L1312fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.L1330fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1973	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGCTGACACCCAACCAGAGTTC	0.540													12	70	---	---	---	---					
TNPO1	3842	broad.mit.edu	37	5	72201127	72201129	+	Splice_Site	DEL	CAG	CAG	-			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr5:72201127_72201129delCAG	ENST00000337273.5	+	24	3015		c.e24-1		TNPO1_ENST00000523768.1_Splice_Site|TNPO1_ENST00000454282.1_Splice_Site|TNPO1_ENST00000506351.2_Splice_Site	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1						interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TTCACTCTTACAGATCCTTCATG	0.340													9	73	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080	by1000genomes	TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1																						AAAGCAATGTGGATAAAGGGAC	0.431													2	4	---	---	---	---					
DGKB	1607	broad.mit.edu	37	7	14613874	14613874	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr7:14613874delG	ENST00000403951.2	-	20	2155	c.1736delC	c.(1735-1737)cctfs	p.P579fs	DGKB_ENST00000402815.1_Frame_Shift_Del_p.P578fs|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Frame_Shift_Del_p.P579fs|DGKB_ENST00000407950.1_Frame_Shift_Del_p.P571fs|DGKB_ENST00000444700.2_Frame_Shift_Del_p.P560fs|DGKB_ENST00000406247.3_Frame_Shift_Del_p.P579fs|DGKB_ENST00000258767.5_Frame_Shift_Del_p.P579fs			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	579					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GATACTGTAAGGCACTGGGTC	0.353													14	168	---	---	---	---					
SSRP1	6749	broad.mit.edu	37	11	57100285	57100285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr11:57100285delG	ENST00000278412.2	-	6	848	c.582delC	c.(580-582)gccfs	p.A194fs		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	194					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CATCTCCCGTGGCCTGGATTA	0.557													8	61	---	---	---	---					
SLC22A10	387775	broad.mit.edu	37	11	63057980	63057980	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr11:63057980delC	ENST00000332793.6	+	1	345	c.343delC	c.(343-345)cccfs	p.P115fs	SLC22A10_ENST00000526800.1_Frame_Shift_Del_p.P63fs|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_5'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	115						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGACACAGAACCCTGTGTGGA	0.498													25	81	---	---	---	---					
NKX2-8	26257	broad.mit.edu	37	14	37050136	37050136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr14:37050136delA	ENST00000258829.5	-	2	908	c.691delT	c.(691-693)tccfs	p.S231fs		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	231					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		AGGGCGGGGGATGCTAAGTGC	0.726													2	4	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-			TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr15:23299147delA	ENST00000560464.1	-	0	4510																											ACATTCAAAGAAAAAAAAAAA	0.313													3	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578471	7578471	+	Frame_Shift_Del	DEL	G	G	-	rs137852790		TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr17:7578471delG	ENST00000420246.2	-	5	591	c.459delC	c.(457-459)cccfs	p.P153fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	153	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P153P(7)|p.T150fs*16(6)|p.?(5)|p.P152fs*14(5)|p.P153fs*26(2)|p.G154fs*27(2)|p.P153fs*22(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.P151_V173del23(1)|p.P153_G154insX(1)|p.D148fs*23(1)|p.T150_P153delTPPP(1)|p.T18fs*16(1)|p.Q144fs*16(1)|p.S149fs*72(1)|p.T57fs*16(1)|p.P152fs*27(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCGGGTGCCGGGCGGGGGTG	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	64	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579544	7579556	+	Frame_Shift_Del	DEL	TCCGGGGACAGCA	TCCGGGGACAGCA	-	rs1800371	byFrequency	TCGA-FD-A62N-01A-11D-A30E-08	TCGA-FD-A62N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	593c7875-d135-4161-bb23-264642a29084	0b643a59-de58-45f1-88be-2de72844e3bc	g.chr17:7579544_7579556delTCCGGGGACAGCA	ENST00000420246.2	-	4	263_275	c.131_143delTGCTGTCCCCGGA	c.(130-144)atgctgtccccggacfs	p.MLSPD44fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.MLSPD44fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.MLSPD44fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.MLSPD44fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.MLSPD44fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.MLSPD44fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	44	Interaction with HRMT1L2.|Transcription activation (acidic).		M -> I (in a sporadic cancer; somatic mutation).|M -> T (in a sporadic cancer; somatic mutation).|M -> V (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P47fs*76(5)|p.S46P(2)|p.S46F(2)|p.P47P(2)|p.P47fs*4(2)|p.P47L(2)|p.D48fs*55(1)|p.M44T(1)|p.L43fs*7(1)|p.P13fs*18(1)|p.S46_D49delSPDD(1)|p.M44I(1)|p.L45P(1)|p.S33fs*23(1)|p.L45fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAATATCGTCCGGGGACAGCATCAAATCATC	0.596		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	338	---	---	---	---