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
YY2	404281	broad.mit.edu	37	X	21874958	21874958	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chrX:21874958C>T	ENST00000429584.2	+	1	854	c.356C>T	c.(355-357)aCc>aTc	p.T119I	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TTCCAGATGACCCTGGCCTCT	0.582000													31	38					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128077088	128077088	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr3:128077088G>A	ENST00000254730.6	+	6	1526	c.1472G>A	c.(1471-1473)cGc>cAc	p.R491H	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	491						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GTGATCGGCCGCTCCCTGTTC	0.567000													4	47					0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128914084	128914084	+	Missense_Mutation	SNP	G	G	A	rs140091268		TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chrX:128914084G>A	ENST00000356892.3	+	1	125	c.11G>A	c.(10-12)cGc>cAc	p.R4H	SASH3_ENST00000476532.1_3'UTR	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	4										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATGCTGCGCCGCAAGCCCTCC	0.577000													22	23					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20577633	20577633	+	Silent	SNP	A	A	G			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr18:20577633A>G	ENST00000399722.2	+	14	2430	c.2079A>G	c.(2077-2079)acA>acG	p.T693T	RBBP8_ENST00000327155.5_Silent_p.T693T|RBBP8_ENST00000360790.5_Silent_p.T693T|RBBP8_ENST00000399725.2_Silent_p.T693T	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	693					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TGGACTGTACATTGGTTAGTG	0.299000								Homologous recombination					10	11					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039767	2039767	+	Silent	SNP	G	G	A			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr9:2039767G>A	ENST00000382203.1	+	4	866	c.657G>A	c.(655-657)caG>caA	p.Q219Q	SMARCA2_ENST00000357248.2_Silent_p.Q219Q|SMARCA2_ENST00000349721.2_Silent_p.Q219Q|SMARCA2_ENST00000382194.1_Silent_p.Q219Q|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	219	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcaacaacagcagcagcaac	0.607000													3	20					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	65					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39034494	39034494	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr17:39034494G>A	ENST00000167588.3	-	6	1083	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	348	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	p.R348C(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTGTTCTGGCGTTCCATGTTA	0.498000													39	63					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43483867	43483867	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr7:43483867G>A	ENST00000395891.1	+	11	1701	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	HECW1_ENST00000453890.1_Missense_Mutation_p.D366N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	366					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCAAATTCAGGACAGCCCCAT	0.532000													22	46					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367777	145367777	+	Missense_Mutation	SNP	G	G	T	rs147966568	by1000genomes	TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr1:145367777G>T	ENST00000342960.5	+	83	10408	c.10373G>T	c.(10372-10374)aGg>aTg	p.R3458M	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3458										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		gaaagaagaaggggaagaaaa	0.428000													7	49					0.0293803	0.0293803	1	1	0
TTN	7273	broad.mit.edu	37	2	179610827	179610827	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr2:179610827C>T	ENST00000360870.5	-	46	16522	c.16300G>A	c.(16300-16302)Gga>Aga	p.G5434R	TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8941	Ig-like 35.						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)			GTGTGACTTCCCTTCTCCTCG	0.408000													38	76					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24580155	24580155	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr22:24580155C>T	ENST00000358321.3	+	4	752	c.491C>T	c.(490-492)aCg>aTg	p.T164M		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	164					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GTGAACGAGACGCGTTGGCAA	0.602000													19	42					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52404789	52404789	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr3:52404789C>T	ENST00000420323.2	+	41	6734	c.6473C>T	c.(6472-6474)gCg>gTg	p.A2158V		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2158					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGAGGACGCGGGCATCAGT	0.612000													3	15					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86645086	86645086	+	Silent	SNP	T	T	C			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr5:86645086T>C	ENST00000456692.2	+	8	742	c.627T>C	c.(625-627)taT>taC	p.Y209Y	RASA1_ENST00000512763.1_Silent_p.Y219Y|RASA1_ENST00000506290.1_Silent_p.Y220Y|RASA1_ENST00000274376.6_Silent_p.Y386Y	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	386	SH2 1.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGGCGATTATTCACTTTATT	0.358000													4	70					0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64174850	64174850	+	Missense_Mutation	SNP	A	A	C			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr12:64174850A>C	ENST00000261234.6	+	2	379	c.221A>C	c.(220-222)aAa>aCa	p.K74T	TMEM5_ENST00000537982.1_3'UTR|TMEM5_ENST00000537373.1_5'UTR|RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	74						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GGAGATGAAAAAAATGAGCAA	0.363000													29	34					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108097922	108097922	+	Silent	SNP	G	G	T			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr9:108097922G>T	ENST00000374720.3	+	4	595	c.348G>T	c.(346-348)gcG>gcT	p.A116A	SLC44A1_ENST00000374723.1_Silent_p.A116A|SLC44A1_ENST00000374724.1_Silent_p.A116A	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	116						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GTGTAGCAGCGTGTCCAAGGC	0.413000													38	71					4.14481e-20	4.64219e-20	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111395599	111395599	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr7:111395599C>T	ENST00000428084.1	-	42	4660	c.4388G>A	c.(4387-4389)cGc>cAc	p.R1463H	DOCK4_ENST00000437633.1_Missense_Mutation_p.R1454H|DOCK4_ENST00000494651.2_Missense_Mutation_p.R337H			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1454	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCAAACCAGCGAGAGATGCC	0.448000													15	34					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161043038	161043038	+	Missense_Mutation	SNP	C	C	A			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr1:161043038C>A	ENST00000368012.3	-	8	1587	c.1285G>T	c.(1285-1287)Gac>Tac	p.D429Y	PVRL4_ENST00000486694.1_Intron|PVRL4_ENST00000453926.2_Intron	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	429					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTACTGTTGTCCTTGAGACTA	0.657000													13	68					9.05144e-12	9.74771e-12	1	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	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				24	45					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563592	75563592	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr16:75563592G>A	ENST00000336257.3	-	3	2085	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	CHST5_ENST00000541075.1_Missense_Mutation_p.R237C|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	231					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TCCCGGGAGCGCAGCACGGCC	0.706000													41	68					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108236054	108236054	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr11:108236054A>G	ENST00000278616.4	+	63	9375	c.8990A>G	c.(8989-8991)gAt>gGt	p.D2997G	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.D2997G	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2997					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTCCTTAGTGATATTGACCAG	0.393000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			33	53					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)del	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					4	2	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													2	4	---	---	---	---					
RP13-726E6.2	0	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													3	6	---	---	---	---					
TUBB8P7	0	broad.mit.edu	37	16	90161966	90161966	+	RNA	DEL	T	T	-	rs56265310		TCGA-DE-A4MC-01A-11D-A257-08	TCGA-DE-A4MC-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b417a45f-2656-43a8-beb9-f2f43ea78299	70f3eec2-4f31-4d65-9fba-10516f958af2	g.chr16:90161966delT	ENST00000567960.1	+	0	702				TUBB8P7_ENST00000564451.1_RNA																							CTACCATGAGTTGGGGTCACC	0.542													9	0	---	---	---	---					
