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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
NYNRIN	57523	broad.mit.edu	37	14	24877450	24877450	+	Silent	SNP	C	T	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr14:24877450C>T	uc001wpf.4	+	2	892	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	192					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCTGCTGAGCCTGGTGCGGGA	0.652													0	1.98E-03	0	0	0	15	6
USP9X	8239	broad.mit.edu	37	X	41075213	41075213	+	Missense_Mutation	SNP	A	C	C			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:41075213A>C	uc004dfb.3	+	34	6026	c.5393A>C	c.(5392-5394)aAg>aCg	p.K1798T	USP9X_uc004dfc.3_Missense_Mutation_p.K1798T	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1798					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATACAACTAAAGCGATTTGAC	0.363													0	4.29E-03	0	0	0	70	35
ARID3B	10620	broad.mit.edu	37	15	74883967	74883967	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:74883967G>A	uc002aye.3	+	6	1433	c.1232G>A	c.(1231-1233)aGc>aAc	p.S411N	ARID3B_uc002ayd.3_Missense_Mutation_p.S411N|ARID3B_uc010bjs.1_Missense_Mutation_p.S116N	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ACCTTGGCAAGCCAGCAGGCT	0.617													0	4.48E-03	0	0	0	7	8
C11orf87	399947	broad.mit.edu	37	11	109294460	109294460	+	Missense_Mutation	SNP	G	T	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr11:109294460G>T	uc021qqf.1	+	0	101	c.101G>T	c.(100-102)gGt>gTt	p.G34V	C11orf87_uc010rwb.2_Missense_Mutation_p.G34V	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA.	34						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGCAACACGGGTGCCCGCGGC	0.672													3.08E-07	1.35E-02	2.27E-07	0	1	32	12
ZNF311	282890	broad.mit.edu	37	6	28963566	28963566	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr6:28963566G>A	uc003nlu.2	-	6	1724	c.1213C>T	c.(1213-1215)Cac>Tac	p.H405Y	ZNF311_uc011dlk.1_Missense_Mutation_p.H313Y|ZNF311_uc003nlv.2_Missense_Mutation_p.H313Y	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ATTCTTATGTGTTTGGTGAGG	0.512													0	1.07E-02	0	0	0	40	12
ASPM	259266	broad.mit.edu	37	1	197060037	197060037	+	Silent	SNP	G	A	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:197060037G>A	uc001gtu.3	-	22	9836	c.9579C>T	c.(9577-9579)cgC>cgT	p.R3193R	ASPM_uc001gtv.3_Silent_p.R1608R|ASPM_uc001gtw.4_Silent_p.R1041R	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3193	IQ 38.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R3193C(1)|p.R3193L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGAGAAAATGGCGCACTGCTT	0.353													0	6.12E-03	0	0	0	86	15
BRCA2	675	broad.mit.edu	37	13	32937551	32937551	+	Missense_Mutation	SNP	G	T	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr13:32937551G>T	uc001uub.1	+	17	8439	c.8212G>T	c.(8212-8214)Gct>Tct	p.A2738S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2738					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCCCCTCTTAGCTGTCTTAAA	0.458			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			1.77E-12	5.44E-03	1.18E-12	0	1	80	27
MAP3K6	9064	broad.mit.edu	37	1	27685202	27685202	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:27685202G>A	uc001bny.1	-	18	2830	c.2581C>T	c.(2581-2583)Cag>Tag	p.Q861*	MAP3K6_uc009vsw.1_Nonsense_Mutation_p.Q853*|MAP3K6_uc001bnz.1_Nonsense_Mutation_p.Q384*	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	861	Protein kinase.				activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGTCTCACCTGAAACATGGCA	0.617													0	6.12E-03	0	0	0	45	18
SEMA6B	10501	broad.mit.edu	37	19	4552537	4552537	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:4552537C>T	uc010dud.2	-	9	1148	c.886G>A	c.(886-888)Gga>Aga	p.G296R	SEMA6B_uc010xih.1_Missense_Mutation_p.G296R	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	296	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGAGTCTCCGGGTACAGAG	0.652													0	4.48E-03	0	0	0	25	9
ZBTB22	9278	broad.mit.edu	37	6	33282984	33282984	+	Silent	SNP	G	A	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr6:33282984G>A	uc003oeb.3	-	1	1862	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Silent_p.G570G|ZBTB22_uc021ywm.1_Silent_p.G570G	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCCGACCCCGCCCAGGCGGT	0.687													0	7.41E-03	0	0	0	62	18
POM121L12	285877	broad.mit.edu	37	7	53104067	53104067	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr7:53104067C>T	uc003tpz.3	+	0	719	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	235										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGGCCAGGGCCTCTGAAGCC	0.642													0	8.87E-03	0	0	0	69	19
NGFRAP1	27018	broad.mit.edu	37	X	102632483	102632483	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:102632483C>T	uc004eki.3	+	2	446	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	NGFRAP1_uc004ekh.3_Missense_Mutation_p.R12C|NGFRAP1_uc004ekj.1_Missense_Mutation_p.R22C	NM_206915	NP_996800	Q00994	BEX3_HUMAN	Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 2, mRNA.	22					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	p.D21D(1)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGAGGAAGACCGCCCTTTGGG	0.498													0	1.44E-02	0	0	0	251	66
ALDH1B1	219	broad.mit.edu	37	9	38396762	38396762	+	Silent	SNP	C	T	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr9:38396762C>T	uc022bgy.1	+	0	1017	c.1017C>T	c.(1015-1017)acC>acT	p.T339T	ALDH1B1_uc004aay.3_Silent_p.T339T	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	339					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TCGAGAGAACCGTGGAGAAAG	0.557													0	5.44E-03	0	0	0	42	26
NPHS1	4868	broad.mit.edu	37	19	36342241	36342241	+	Missense_Mutation	SNP	G	T	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:36342241G>T	uc002oby.3	-	2	476	c.320C>A	c.(319-321)gCg>gAg	p.A107E		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	107	Ig-like C2-type 1.		A -> T (in NPHS1).|A -> V (in NPHS1).		cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCATACTCCGCGTCATCGCT	0.642													8.84E-04	8.29E-03	6.73E-04	0	1	15	10
KRT36	8689	broad.mit.edu	37	17	39643690	39643690	+	Silent	SNP	C	T	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:39643690C>T	uc002hwt.3	-	4	900	c.900G>A	c.(898-900)gaG>gaA	p.E300E		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	300	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACTGCAGCTGCTCCGAGCTGG	0.587													0	1.98E-03	0	0	0	34	7
ZXDC	79364	broad.mit.edu	37	3	126189759	126189759	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr3:126189759G>A	uc003eiv.3	-	3	1303	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.P417S	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	417					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CACTCGAACGGCTTTGTGCCT	0.463													0	7.84E-03	0	0	0	89	33
MESDC2	23184	broad.mit.edu	37	15	81282072	81282072	+	Silent	SNP	G	A	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:81282072G>A	uc002bfy.1	-	0	134	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Non-coding_Transcript	NM_015154	NP_055969	Q14696	MESD_HUMAN	Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.	21	Chaperone domain (By similarity).				Wnt receptor signaling pathway|mesoderm development|protein folding	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						agcagcagcagcagcagGTCA	0.682													0	9.10E-03	0	0	0	18	4
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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	0.368	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				0	3.95E-03	0	0	0	65	25
HHAT	55733	broad.mit.edu	37	1	210591549	210591549	+	Silent	SNP	C	T	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:210591549C>T	uc010psr.2	+	5	844	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	HHAT_uc009xcx.3_Silent_p.L246L|HHAT_uc010psq.2_Silent_p.L109L|HHAT_uc009xcy.3_Silent_p.L181L|HHAT_uc010pss.2_Silent_p.L201L|HHAT_uc010pst.2_Silent_p.L183L|HHAT_uc001hhz.4_Silent_p.L246L|HHAT_uc021pip.1_Silent_p.L246L|HHAT_uc010psu.2_Silent_p.L181L	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	246					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGTCCTGGCCCTGGGGCTGGG	0.567													0	1.44E-02	0	0	0	165	50
ABCA6	23460	broad.mit.edu	37	17	67102297	67102297	+	Silent	SNP	C	A	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:67102297C>A	uc002jhw.1	-	18	2620	c.2445G>T	c.(2443-2445)ctG>ctT	p.L815L		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	815					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGAGTGAGCCAGCTCCATTT	0.413													1.87E-09	7.41E-03	1.34E-09	0	1	60	17
STOML1	9399	broad.mit.edu	37	15	74282792	74282792	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:74282792G>A	uc002awe.3	-	1	211	c.140C>T	c.(139-141)cCc>cTc	p.P47L	STOML1_uc002awf.3_Missense_Mutation_p.P47L|STOML1_uc010bje.3_Missense_Mutation_p.P47L|STOML1_uc010uld.2_Missense_Mutation_p.P5L|STOML1_uc002awh.3_Missense_Mutation_p.P47L|STOML1_uc002awg.3_Missense_Mutation_p.P47L	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA.	47						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CCAGCTCTGGGGTACATCTGC	0.582													0	4.67E-03	0	0	0	25	3
LONRF1	91694	broad.mit.edu	37	8	12580704	12580704	+	Silent	SNP	T	C	C			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr8:12580704T>C	uc003wwd.1	-	11	2286	c.2223A>G	c.(2221-2223)ccA>ccG	p.P741P	LONRF1_uc011kxv.1_Silent_p.P330P|LONRF1_uc010lsp.1_Silent_p.P341P	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA.	741	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GCTGGTATCGTGGGTCTACAG	0.418													0	1.44E-02	0	0	0	135	46
SENP5	205564	broad.mit.edu	37	3	196612456	196612456	+	Missense_Mutation	SNP	A	G	G			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr3:196612456A>G	uc003fwz.4	+	1	653	c.404A>G	c.(403-405)aAt>aGt	p.N135S	SENP5_uc011bty.2_Missense_Mutation_p.N135S	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	135					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	p.N135H(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGAGAGAAAAATCTCTTGAAG	0.443													0	2.78E-03	0	0	0	58	21
NHS	4810	broad.mit.edu	37	X	17742462	17742462	+	Silent	SNP	T	A	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:17742462T>A	uc011mix.2	+	5	1490	c.1152T>A	c.(1150-1152)gtT>gtA	p.V384V	NHS_uc004cxx.3_Silent_p.V363V|NHS_uc004cxy.3_Silent_p.V207V|NHS_uc004cxz.3_Silent_p.V186V|NHS_uc004cya.3_Silent_p.V86V	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	363						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCTCTCTGGTTCATTCACAAT	0.423													0	8.74E-03	0	0	0	120	40
PRKCSH	5589	broad.mit.edu	37	19	11559445	11559445	+	Splice_Site	SNP	G	T	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:11559445G>T	uc010xlz.2	+	14	1622	c.1286_splice	c.e14+1	p.E429_splice	PRKCSH_uc002mrt.3_Splice_Site_p.E422_splice|PRKCSH_uc002mru.3_Splice_Site_p.E419_splice|PRKCSH_uc010dyb.3_Splice_Site_p.E419_splice	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	422	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCACCAACGAGTGCGTCCCAG	0.617													1.15E-11	3.95E-03	7.93E-12	0	1	64	24
ZNHIT6	54680	broad.mit.edu	37	1	86171801	86171801	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:86171801delG	uc001dlh.3	-	3	1024	c.875delC	c.(874-876)tctfs	p.S292fs	ZNHIT6_uc010osc.2_Frame_Shift_Del_p.S253fs	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	292					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						AGCATCTCTAGAAATATGGTC	0.313																		37	23
