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
OR51T1	401665	broad.mit.edu	37	11	4903803	4903803	+	Missense_Mutation	SNP	G	G	A	rs144368286		TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr11:4903803G>A	ENST00000380378.1	+	1	755	c.755G>A	c.(754-756)cGt>cAt	p.R252H	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.R225H|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATCCTCCGTACTGTTCTG	0.453000													6	52					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177034070	177034070	+	Silent	SNP	G	G	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr2:177034070G>A	ENST00000468418.3	+	3	2318	c.228G>A	c.(226-228)ctG>ctA	p.L76L	HOXD3_ENST00000249440.3_Silent_p.L76L|HOXD3_ENST00000410016.1_Silent_p.L76L			P31249	HXD3_HUMAN	homeobox D3	76					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CTGCCCCTCTGAGAGCCCCAG	0.662000													10	47					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	709087	709087	+	Splice_Site	SNP	G	G	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr16:709087G>A	ENST00000549091.1	+	25	3105	c.3011_splice	c.e25-1	p.D1005_splice	WDR90_ENST00000293879.4_Splice_Site_p.D1005_splice	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1005										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCTCTCCAGCGACCAAAGCTT	0.662000													25	29					0	0	1	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177163	70177163	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr9:70177163G>A	ENST00000377420.1	-	1	1652	c.821C>T	c.(820-822)tCg>tTg	p.S274L		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	274					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)|lung(2)	7						GACGGGGGCCGAGAGCAGTAG	0.697000													13	50					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	78					0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85584274	85584274	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr11:85584274C>T	ENST00000280245.4	+	3	628	c.116C>T	c.(115-117)gCc>gTc	p.A39V	CCDC83_ENST00000376067.1_5'UTR|CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000342404.3_Missense_Mutation_p.A39V	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	39										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAGGAAGATGCCGTGGAGCAA	0.274000													3	13					0	0	1	0	0
MTERF	7978	broad.mit.edu	37	7	91503060	91503060	+	Silent	SNP	G	G	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr7:91503060G>T	ENST00000419292.1	-	2	1064	c.988C>A	c.(988-990)Cgg>Agg	p.R330R	CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000351870.3_Silent_p.R350R|MTERF_ENST00000406735.2_Silent_p.R330R			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	350	Interaction with DNA.				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TCCAGAACCCGAGGATTTTCG	0.343000													18	35					2.4624e-09	2.87813e-09	1	1	0
IVNS1ABP	10625	broad.mit.edu	37	1	185278149	185278149	+	Silent	SNP	A	A	G			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr1:185278149A>G	ENST00000367498.3	-	4	889	c.267T>C	c.(265-267)taT>taC	p.Y89Y	IVNS1ABP_ENST00000367497.1_Silent_p.Y89Y|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	89	BTB.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CAGTGTAGGCATAATTCAACA	0.303000													9	28					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75022276	75022276	+	Silent	SNP	C	C	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr14:75022276C>A	ENST00000261978.4	-	4	1337	c.951G>T	c.(949-951)ccG>ccT	p.P317P	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Silent_p.P317P|CTD-2207P18.1_ENST00000554552.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	317					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCCTGGTCCCGGGGGCAGGG	0.642000													15	56					4.7546e-09	5.48608e-09	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134084225	134084225	+	Missense_Mutation	SNP	G	G	T	rs142202092	byFrequency	TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr4:134084225G>T	ENST00000264360.4	+	4	3717	c.2891G>T	c.(2890-2892)cGc>cTc	p.R964L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	964					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCTGATGGACGCCAGGCTGCT	0.522000													9	76					0.000274275	0.000287032	1	1	0
UMODL1	89766	broad.mit.edu	37	21	43557723	43557723	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr21:43557723A>G	ENST00000400427.1	+	21	4514	c.4118A>G	c.(4117-4119)tAc>tGc	p.Y1373C	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.1_Missense_Mutation_p.Y1245C|UMODL1_ENST00000408989.2_Missense_Mutation_p.Y1445C|UMODL1_ENST00000408910.2_Missense_Mutation_p.Y1317C	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1317						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGGTGTTCTACGAATAGGAG	0.577000													10	35					0	0	1	0	0
ANKRD39	51239	broad.mit.edu	37	2	97520082	97520082	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr2:97520082G>A	ENST00000393537.4	-	2	304	c.197C>T	c.(196-198)aCt>aTt	p.T66I		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	66										NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						CACCAGCGCAGTGTAGCCGGC	0.587000													29	129					0	0	1	0	0
DERA	51071	broad.mit.edu	37	12	16109965	16109965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr12:16109965C>T	ENST00000428559.2	+	2	339	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	DERA_ENST00000532964.1_Nonsense_Mutation_p.Q43*|DERA_ENST00000526530.1_5'UTR	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	43					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				AAAGGAGTGGCAGGTAAGGGT	0.453000													3	20					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102595533	102595533	+	Silent	SNP	G	G	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr11:102595533G>T	ENST00000236826.3	-	1	152	c.54C>A	c.(52-54)tcC>tcA	p.S18S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	18					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		GAAAGGCCTTGGAAATCTGCA	0.393000													17	112					1.5739e-10	1.88868e-10	1	1	0
TPK1	27010	broad.mit.edu	37	7	144380067	144380067	+	Silent	SNP	A	A	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr7:144380067A>T	ENST00000360057.3	-	4	222	c.120T>A	c.(118-120)ctT>ctA	p.L40L	TPK1_ENST00000378099.3_Silent_p.L40L|TPK1_ENST00000538212.2_5'UTR|TPK1_ENST00000549981.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	40					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AGGCTCTTAAAAGAGCTTCAA	0.408000													28	100					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158709	26158709	+	Silent	SNP	G	G	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr6:26158709G>T	ENST00000289316.2	+	1	336	c.312G>T	c.(310-312)ccG>ccT	p.P104P	HIST1H2BD_ENST00000377777.4_Silent_p.P104P	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	104					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TGCTGCTTCCGGGGGAGCTGG	0.607000													31	46					1.99505e-19	2.52894e-19	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84527525	84527525	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr15:84527525A>C	ENST00000286744.5	+	8	959	c.735A>C	c.(733-735)gaA>gaC	p.E245D	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E245D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	245						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGGAGAAGAAAATGTAATTG	0.393000													13	21					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43816667	43816667	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr15:43816667C>G	ENST00000382031.1	+	5	3741	c.3710C>G	c.(3709-3711)cCa>cGa	p.P1237R	MAP1A_ENST00000399453.1_Missense_Mutation_p.P999R|MAP1A_ENST00000300231.5_Missense_Mutation_p.P999R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	999						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCTCCTCCACCATCTGGCCCA	0.587000													23	45					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43318602	43318602	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr10:43318602G>A	ENST00000374518.4	+	20	3232	c.3169G>A	c.(3169-3171)Gaa>Aaa	p.E1057K		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1057					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCCAAATTTGAAGGTGCTGT	0.428000													24	86					0	0	1	0	0
LOC101928517	101928517	broad.mit.edu	37	19	51670987	51670987	+	RNA	SNP	C	C	T	rs80171645	by1000genomes	TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr19:51670987C>T	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							GACCCAGGGCCGATTCCACCT	0.557000													6	21					0	0	1	0	0
ACTR2	10097	broad.mit.edu	37	2	65473767	65473767	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr2:65473767A>G	ENST00000260641.5	+	3	426	c.269A>G	c.(268-270)gAc>gGc	p.D90G	ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Missense_Mutation_p.D95G|ACTR2_ENST00000542850.1_Missense_Mutation_p.D35G	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	90					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						CACCTGTGGGACTACACATTT	0.378000													27	78					0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17408816	17408816	+	Silent	SNP	G	G	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr11:17408816G>A	ENST00000339994.4	-	1	1390	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	KCNJ11_ENST00000528731.1_Silent_p.L188L	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	188						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		TGGTGGTGCAGGTCGCTGGGT	0.617000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	81					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53237070	53237070	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr1:53237070A>T	ENST00000294353.6	+	3	720	c.575A>T	c.(574-576)gAt>gTt	p.D192V	ZYG11B_ENST00000443756.2_Missense_Mutation_p.D192V|ZYG11B_ENST00000545132.1_Missense_Mutation_p.D192V	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	192							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GAGAGCTTGGATATTTCTAAC	0.438000													14	53					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40054211	40054211	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr22:40054211T>G	ENST00000336649.4	+	14	2065	c.2065T>G	c.(2065-2067)Ttt>Gtt	p.F689V	CACNA1I_ENST00000404898.1_Missense_Mutation_p.F648V|CACNA1I_ENST00000402142.3_Missense_Mutation_p.F683V|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F683V|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F648V|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F648V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	683					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CACCAGCATGTTTGCCCTGGA	0.552000													15	75					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156672923	156672923	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr5:156672923C>A	ENST00000422843.3	+	15	1699	c.1547C>A	c.(1546-1548)aCa>aAa	p.T516K	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	516	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCAGTTCCACAGGCACCAAA	0.527000			T	SYK	peripheral T-cell lymphoma								20	56					8.00594e-06	8.57779e-06	1	1	0
OR2A2	442361	broad.mit.edu	37	7	143807213	143807213	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr7:143807213A>T	ENST00000408979.2	+	1	607	c.538A>T	c.(538-540)Att>Ttt	p.I180F		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTTCTGTGAAATTCTGTCTGT	0.512000													52	98					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25972214	25972214	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr6:25972214C>A	ENST00000357085.3	+	5	1101	c.625C>A	c.(625-627)Ctg>Atg	p.L209M	TRIM38_ENST00000349458.3_Missense_Mutation_p.L209M	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	209					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						ACAACAGACTCTGAGTAGACT	0.478000													14	31					4.3838e-07	4.87089e-07	1	1	0
IGSF1	3547	broad.mit.edu	37	X	130416701	130416701	+	Silent	SNP	G	G	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chrX:130416701G>T	ENST00000370904.1	-	13	1846	c.936C>A	c.(934-936)ccC>ccA	p.P312P	IGSF1_ENST00000370903.3_Silent_p.P321P|IGSF1_ENST00000370910.1_Silent_p.P312P|IGSF1_ENST00000361420.3_Silent_p.P321P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	321	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.P321P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCCAGGTCTTGGGGAAAGTGT	0.507000													12	12					4.3838e-07	4.87089e-07	1	1	0
OR1L8	138881	broad.mit.edu	37	9	125330548	125330548	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr9:125330548G>C	ENST00000304865.2	-	1	290	c.209C>G	c.(208-210)aCt>aGt	p.T70S		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCAAATATCAGTGAGAGACAG	0.458000													15	62					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	39					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340368	55340368	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr11:55340368G>A	ENST00000314634.3	+	1	765	c.765G>A	c.(763-765)atG>atA	p.M255I		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	255					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)				GCATATTTATGTACACATGCC	0.408000													20	38					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084966	53084966	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr8:53084966C>A	ENST00000276480.7	-	10	1138	c.455G>T	c.(454-456)aGt>aTt	p.S152I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	152						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGGATGCCACTGTCATTTAA	0.388000													39	109					1.30998e-17	1.63748e-17	1	1	0
TPTE2P6	374491	broad.mit.edu	37	13	25161457	25161457	+	RNA	SNP	G	G	A	rs1851732	by1000genomes	TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr13:25161457G>A	ENST00000453498.1	+	0	981																											TTATTTATTCGATTCGTGGTA	0.378000													5	28					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1031991	1031991	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr11:1031991C>T	ENST00000421673.2	-	3	228	c.178G>A	c.(178-180)Gtg>Atg	p.V60M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	60	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTCGTACACGTGGTGGTCG	0.642000													11	29					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75906931	75906931	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr5:75906931A>G	ENST00000274364.6	+	13	1741	c.1444A>G	c.(1444-1446)Aat>Gat	p.N482D	IQGAP2_ENST00000502745.1_Missense_Mutation_p.N35D|IQGAP2_ENST00000396234.3_Missense_Mutation_p.N35D|IQGAP2_ENST00000379730.3_Missense_Mutation_p.N41D	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	482					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACCTACTGCGAATATTAGTGA	0.408000													18	62					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187854	57187854	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr7:57187854G>T	ENST00000331162.4	-	5	1538	c.1268C>A	c.(1267-1269)aCc>aAc	p.T423N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTCAGTGAGGGTTGAGGATAA	0.448000													6	66					0.00198382	0.00198382	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49445942	49445942	+	Silent	SNP	T	T	C			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr12:49445942T>C	ENST00000301067.7	-	10	1523	c.1524A>G	c.(1522-1524)gaA>gaG	p.E508E		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AAGGTGATGATTCAGGTGGGG	0.617000													18	36					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44085382	44085382	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr1:44085382G>T	ENST00000359947.4	+	29	5304	c.4964G>T	c.(4963-4965)cGc>cTc	p.R1655L	PTPRF_ENST00000438120.1_Missense_Mutation_p.R1646L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R1014L|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1655L|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1646L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1655	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACACGTCCCGCTTCATCAGC	0.597000													5	32					0.000602214	0.00062298	1	1	0
PRKG2	5593	broad.mit.edu	37	4	82092953	82092953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr4:82092953G>A	ENST00000395578.1	-	4	750	c.634C>T	c.(634-636)Cga>Tga	p.R212*	PRKG2_ENST00000264399.1_Nonsense_Mutation_p.R212*|PRKG2_ENST00000418486.2_Nonsense_Mutation_p.R212*|RP11-100N20.1_ENST00000512502.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	212					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.R212*(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACCTCTAGTCGACCCTCTATC	0.383000													14	34					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158710	26158710	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr6:26158710G>C	ENST00000289316.2	+	1	337	c.313G>C	c.(313-315)Ggg>Cgg	p.G105R	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.G105R	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	105					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GCTGCTTCCGGGGGAGCTGGC	0.612000													31	46					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57106778	57106778	+	Silent	SNP	A	A	C			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr18:57106778A>C	ENST00000439986.4	-	9	985	c.948T>G	c.(946-948)tcT>tcG	p.S316S	CCBE1_ENST00000398179.2_Silent_p.S45S	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	316	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GGCTTACCTTAGAACCATCTC	0.418000													46	77					0	0	1	0	0
CCDC127	133957	broad.mit.edu	37	5	205656	205656	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr5:205656C>A	ENST00000296824.3	-	3	671	c.539G>T	c.(538-540)cGc>cTc	p.R180L		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	180										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			CCGCTTGCTGCGAGGAAGAAA	0.517000													12	63					0.00010058	0.000106496	1	1	0
RBM10	8241	broad.mit.edu	37	X	47028898	47028898	+	Splice_Site	SNP	G	G	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chrX:47028898G>T	ENST00000377604.3	+	3	943		c.e3+1		RBM10_ENST00000468791.1_Splice_Site|RBM10_ENST00000329236.7_Splice_Site|RBM10_ENST00000345781.6_Splice_Site	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10						mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GAGTGCGGAGGTGAGGAGGGG	0.642000													6	4					0.00116845	0.00118157	1	1	0
FARS2	10667	broad.mit.edu	37	6	5368810	5368810	+	Missense_Mutation	SNP	G	G	T	rs111573636		TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr6:5368810G>T	ENST00000324331.6	+	2	343	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C	FARS2_ENST00000274680.4_Missense_Mutation_p.G3C			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	3					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TACAATGGTGGGCTCAGCTCT	0.537000													18	45					4.63292e-17	5.71182e-17	1	1	0
TRBV7-6	28592	broad.mit.edu	37	7	142139555	142139555	+	RNA	SNP	A	A	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr7:142139555A>T	ENST00000390374.3	-	0	114																											GGAGACTGGGAGACTCCAGCA	0.478000													15	47					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188446	57188446	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr7:57188446A>G	ENST00000331162.4	-	5	946	c.676T>C	c.(676-678)Tca>Cca	p.S226P		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTATGGTTTGAGGAGCAGTTA	0.378000													5	27					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114511088	114511088	+	Silent	SNP	C	C	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr1:114511088C>T	ENST00000369558.1	+	13	2821	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	HIPK1_ENST00000340480.4_Silent_p.S489S|HIPK1_ENST00000369553.1_Silent_p.S469S|HIPK1_ENST00000369554.2_Silent_p.S818S|HIPK1_ENST00000369555.2_Silent_p.S818S|HIPK1_ENST00000369559.4_Silent_p.S863S|HIPK1_ENST00000369561.4_Silent_p.S829S|HIPK1_ENST00000426820.2_Silent_p.S863S|HIPK1_ENST00000406344.1_Silent_p.S469S			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTGCCTTCCCAAGTCTATT	0.473000													17	86					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76063980	76063980	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr17:76063980C>A	ENST00000335749.4	+	5	3314	c.2745C>A	c.(2743-2745)aaC>aaA	p.N915K	TNRC6C_ENST00000544502.1_Missense_Mutation_p.N915K|TNRC6C_ENST00000588061.1_Missense_Mutation_p.N918K|TNRC6C_ENST00000588847.1_Missense_Mutation_p.N915K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.N918K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.N918K	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	918	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCTGGGGGAACGCCCCCAAAA	0.483000													16	34					3.41278e-10	4.04145e-10	1	1	0
BNC2	54796	broad.mit.edu	37	9	16436509	16436509	+	Silent	SNP	A	A	C			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr9:16436509A>C	ENST00000380672.4	-	6	1740	c.1683T>G	c.(1681-1683)tcT>tcG	p.S561S	BNC2_ENST00000380666.2_Silent_p.S561S|BNC2_ENST00000380667.2_Silent_p.S494S|BNC2_ENST00000545497.1_Silent_p.S466S	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	561	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCTTTAGCCCAGAAAATACTA	0.512000													23	33					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142513603	142513603	+	Silent	SNP	C	C	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr5:142513603C>T	ENST00000378004.3	+	19	2125	c.1770C>T	c.(1768-1770)gaC>gaT	p.D590D	ARHGAP26_ENST00000274498.4_Silent_p.D590D	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	590	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAGCAGTGACTCCAAGCCCC	0.547000													44	96					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50388254	50388254	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr12:50388254C>T	ENST00000434422.1	-	12	1384	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	RACGAP1_ENST00000312377.5_Missense_Mutation_p.M361I|RACGAP1_ENST00000454520.2_Missense_Mutation_p.M361I|RACGAP1_ENST00000547905.1_Missense_Mutation_p.M361I|RACGAP1_ENST00000427314.2_Missense_Mutation_p.M361I|RACGAP1_ENST00000551016.1_Missense_Mutation_p.M361I			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	361	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGGAGGGGATCATTGGAGAAG	0.398000													14	23					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43690554	43690554	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr19:43690554C>T	ENST00000404580.1	-	1	92	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	PSG5_ENST00000407568.1_Missense_Mutation_p.G2R|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407356.1_Missense_Mutation_p.G2R|PSG5_ENST00000366175.3_Missense_Mutation_p.G2R|PSG5_ENST00000342951.6_Missense_Mutation_p.G2R|PSG5_ENST00000599812.1_Missense_Mutation_p.G2R			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	2					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GAGAGGGGCCCCATGGTCTCT	0.607000													30	75					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153902776	153902776	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr1:153902776G>C	ENST00000361217.4	-	28	4906	c.4488C>G	c.(4486-4488)tgC>tgG	p.C1496W		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1496										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGGTCTCTAGCATTCTGGAG	0.557000													10	19					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116837032	116837032	+	Silent	SNP	T	T	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr6:116837032T>A	ENST00000368599.3	+	2	861	c.810T>A	c.(808-810)tcT>tcA	p.S270S	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	270						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AGCTGCATTCTTTCCACCAAA	0.502000													20	58					0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97062651	97062651	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr9:97062651T>A	ENST00000395395.2	+	5	901	c.811T>A	c.(811-813)Ttt>Att	p.F271I	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	271						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				TGGGCGTCGGTTTAGCCAGAA	0.562000													17	52					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34067214	34067214	+	Silent	SNP	C	C	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr20:34067214C>T	ENST00000397527.1	+	18	2973	c.2253C>T	c.(2251-2253)gaC>gaT	p.D751D	RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|CEP250_ENST00000342580.4_Silent_p.D751D	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	751	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGGAGCGTGACCGGCAGGACC	0.597000													19	97					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114804148	114804148	+	Silent	SNP	G	G	T	rs35110399	byFrequency	TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr12:114804148G>T	ENST00000310346.4	-	8	1470	c.804C>A	c.(802-804)gcC>gcA	p.A268A	TBX5_ENST00000526441.1_Silent_p.A268A|TBX5_ENST00000405440.2_Silent_p.A268A|TBX5_ENST00000349716.5_Silent_p.A218A	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	268					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGTGGTTGGAGGCCACTTTTT	0.522000													9	58					5.4927e-09	6.25751e-09	1	1	0
QSOX2	169714	broad.mit.edu	37	9	139110572	139110572	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr9:139110572C>T	ENST00000358701.5	-	8	1076	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	347					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.G347R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		AGCTCTGCTCCGGCCAGGGAC	0.597000													9	19					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946336	16946336	+	RNA	SNP	G	G	A	rs11586784	by1000genomes	TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr1:16946336G>A	ENST00000412962.1	-	0	1183																											CAGGGCTCACGAACCTGCTGC	0.662000													4	12					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693534	94693534	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr4:94693534C>G	ENST00000282020.4	+	16	3167	c.2909C>G	c.(2908-2910)cCt>cGt	p.P970R	GRID2_ENST00000510992.1_Missense_Mutation_p.P875R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	970	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CACAGGGCACCTAATGGGGGC	0.493000													4	56					0	0	1	0	0
TMEM72	643236	broad.mit.edu	37	10	45430219	45430219	+	Silent	SNP	C	C	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr10:45430219C>T	ENST00000544540.1	+	4	595	c.111C>T	c.(109-111)agC>agT	p.S37S	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	155						integral to membrane		p.S155S(2)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						CCTCTAGCAGCGCTGTGAGCA	0.602000													29	115					0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113965162	113965162	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr13:113965162A>G	ENST00000332556.4	+	4	736	c.542A>G	c.(541-543)aAc>aGc	p.N181S	LAMP1_ENST00000397181.3_Intron	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	181	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TACCTTTCCAACAGCAGCTTC	0.557000													14	23					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69379389	69379389	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr2:69379389G>T	ENST00000303714.4	+	13	1362	c.1040G>T	c.(1039-1041)tGc>tTc	p.C347F	ANTXR1_ENST00000409349.3_Missense_Mutation_p.C347F	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	347					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CCCCTCTGCTGCACTGTGGTA	0.532000									Familial Infantile Hemangioma				12	47					0.000978159	0.00100039	1	1	0
TUBAL3	79861	broad.mit.edu	37	10	5435746	5435746	+	Nonsense_Mutation	SNP	T	T	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr10:5435746T>A	ENST00000380419.3	-	4	1112	c.1075A>T	c.(1075-1077)Aag>Tag	p.K359*	TUBAL3_ENST00000479328.1_Nonsense_Mutation_p.K319*	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	359					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						ATGCCCACCTTGAAACCAGTT	0.567000													13	25					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44085379	44085379	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr1:44085379C>T	ENST00000359947.4	+	29	5301	c.4961C>T	c.(4960-4962)tCc>tTc	p.S1654F	PTPRF_ENST00000438120.1_Missense_Mutation_p.S1645F|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.S1013F|PTPRF_ENST00000372414.3_Missense_Mutation_p.S1654F|PTPRF_ENST00000372413.3_Missense_Mutation_p.S1645F	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1654	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCCACACGTCCCGCTTCATC	0.592000													5	35					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86684157	86684157	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr2:86684157G>A	ENST00000409556.1	+	9	1171	c.806G>A	c.(805-807)gGa>gAa	p.G269E	KDM3A_ENST00000542128.1_Missense_Mutation_p.G217E|KDM3A_ENST00000409064.1_Missense_Mutation_p.G269E|KDM3A_ENST00000312912.5_Missense_Mutation_p.G269E			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	269					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAGAATAATGGAACCCTGGTT	0.358000													5	11					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105795454	105795454	+	Silent	SNP	C	C	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr11:105795454C>A	ENST00000393127.2	+	12	2252	c.1806C>A	c.(1804-1806)tcC>tcA	p.S602S	GRIA4_ENST00000530497.1_Silent_p.S602S|GRIA4_ENST00000282499.5_Silent_p.S602S|GRIA4_ENST00000525187.1_Silent_p.S602S	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	602					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCTGGTTTTCCCTGGGTGCTT	0.463000													7	25					5.18039e-06	5.61729e-06	1	1	0
XXYLT1	152002	broad.mit.edu	37	3	194790638	194790638	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr3:194790638C>A	ENST00000310380.6	-	4	1096	c.988G>T	c.(988-990)Gac>Tac	p.D330Y	XXYLT1_ENST00000355729.4_Missense_Mutation_p.D127Y|XXYLT1_ENST00000356740.5_Missense_Mutation_p.D124Y|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Missense_Mutation_p.D127Y|XXYLT1_ENST00000429994.1_Missense_Mutation_p.D184Y	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	330						integral to membrane	transferase activity, transferring glycosyl groups										AAGTCCTGGTCCCCGAGGTGG	0.657000													18	31					1.45105e-14	1.76479e-14	1	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072056	17072056	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr22:17072056T>A	ENST00000359963.3	-	1	1644	c.1385A>T	c.(1384-1386)gAc>gTc	p.D462V		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	462					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGCCATCACGTCTGAGACAGC	0.527000													40	60					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429456	42429456	+	Missense_Mutation	SNP	G	G	A	rs63751100		TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr17:42429456G>A	ENST00000053867.3	+	11	1315	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	GRN_ENST00000589265.1_Missense_Mutation_p.R261Q	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	418					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGTGTCAGCGAGGAAGCGAG	0.657000													20	37					0	0	1	0	0
SNHG12	85028	broad.mit.edu	37	1	28906820	28906820	+	RNA	DEL	A	A	-	rs11325748		TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr1:28906820delA	ENST00000488745.1	-	0	1100				SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA																							actccgtctcaaaaaaaaaaa	0.493													3	3	---	---	---	---					
OR2J1	442185	broad.mit.edu	37	6	29068728	29068729	+	Frame_Shift_Ins	INS	-	-	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr6:29068728_29068729insA	ENST00000377171.3	+	1	343_344	c.9_10insA	c.(7-12)ataaaafs	p.IK3fs						olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)											breast(1)|lung(6)	7						GAATGTTGATGAAAAAAAATGC	0.356													7	28	---	---	---	---					
MFHAS1	9258	broad.mit.edu	37	8	8750192	8750192	+	Frame_Shift_Del	DEL	A	A	-			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr8:8750192delA	ENST00000276282.6	-	1	963	c.377delT	c.(376-378)cgfs	p.L126fs		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	126										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CTCCGCGCCCAGGGCGGTCAG	0.726													2	4	---	---	---	---					
CRISPLD1	83690	broad.mit.edu	37	8	75898348	75898348	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr8:75898348delG	ENST00000262207.4	+	2	594	c.126delG	c.(124-126)gafs	p.E42fs	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	42						extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ACATGGATGAGGATGGTGAGT	0.438													55	106	---	---	---	---					
KCNS2	3788	broad.mit.edu	37	8	99441470	99441476	+	Frame_Shift_Del	DEL	GCAACTT	GCAACTT	-			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr8:99441470_99441476delGCAACTT	ENST00000287042.4	+	2	1613_1619	c.1263_1269delGCAACTT	c.(1261-1269)aafs	p.KQL421fs	KCNS2_ENST00000521839.1_Frame_Shift_Del_p.KQL421fs	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	421						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGCGCCAAAAGCAACTTGAGAGTGCCA	0.498													29	189	---	---	---	---					
C10orf2	56652	broad.mit.edu	37	10	102748931	102748949	+	Frame_Shift_Del	DEL	GCACGAAAACTGAACCCCA	GCACGAAAACTGAACCCCA	-			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr10:102748931_102748949delGCACGAAAACTGAACCCCA	ENST00000370228.1	+	1	1149_1167	c.964_982delGCACGAAAACTGAACCCCA	c.(964-984)aafs	p.ARKLNPK322fs	C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Frame_Shift_Del_p.ARKLNPK322fs	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	322					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTT	0.571													17	73	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321928	66321929	+	RNA	DEL	AA	AA	-	rs141435934		TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr11:66321928_66321929delAA	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						accctgtctcaaaaaaaaaaaa	0.540													3	3	---	---	---	---					
C12orf5	57103	broad.mit.edu	37	12	4461562	4461563	+	Frame_Shift_Ins	INS	-	-	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr12:4461562_4461563insA	ENST00000179259.4	+	6	585_586	c.518_519insA	c.(517-519)gaafs	p.E173fs		NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	173						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TTTCCTTTAGGAAAAAATCACA	0.411													11	67	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578192	7578192	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr17:7578192delG	ENST00000420246.2	-	6	789	c.657delC	c.(655-657)ccfs	p.P219fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.P219fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P219fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P219fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P219fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P219fs|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	219	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> C (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 a familial cancer not matching LFS; germline mutation and 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.?(11)|p.0?(8)|p.P219P(4)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218fs*26(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.P219L(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)		GCGGCTCATAGGGCACCACCA	0.547		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)			7	11	---	---	---	---					
BCAS3	54828	broad.mit.edu	37	17	59465980	59465981	+	Splice_Site	INS	-	-	A			TCGA-62-A472-01A-11D-A24D-08	TCGA-62-A472-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36f7821e-e35a-4a86-b827-08753a12294c	c898963d-10c4-4b15-bd7f-f10f58b245e2	g.chr17:59465980_59465981insA	ENST00000589222.1	+	25	2729_2730	c.2659_splice	c.e25-1	p.GK887_splice	BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000588874.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000408905.3_Intron			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTTCAAAAGGGAAAAAAAAAGG	0.441													2	4	---	---	---	---					
