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
DGCR2	9993	broad.mit.edu	37	22	19028788	19028788	+	Silent	SNP	G	A	A			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr22:19028788G>A	uc002zoq.1	-	8	1427	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	DGCR2_uc021wkx.1_Silent_p.G390G|DGCR2_uc021wky.1_Silent_p.G352G|DGCR2_uc021wkz.1_Silent_p.G169G|DGCR2_uc011agr.1_Silent_p.G349G|DGCR2_uc002zor.1_Silent_p.G169G	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	393					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GGATCCTGCGGCCGAGGTTGA	0.622													0	1	0	0	0	59	25
SLC8A3	6547	broad.mit.edu	37	14	70634771	70634771	+	Silent	SNP	T	A	A			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr14:70634771T>A	uc001xly.3	-	1	1123	c.369A>T	c.(367-369)acA>acT	p.T123T	SLC8A3_uc001xlw.3_Silent_p.T123T|SLC8A3_uc001xlx.3_Silent_p.T123T|SLC8A3_uc001xlz.3_Silent_p.T123T|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	123					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAATAGTGGTTGTGCTGGTTT	0.488													0	1	0	0	0	43	12
BBS12	166379	broad.mit.edu	37	4	123664933	123664933	+	Missense_Mutation	SNP	C	G	G			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr4:123664933C>G	uc021xrm.1	+	2	2267	c.1886C>G	c.(1885-1887)tCt>tGt	p.S629C	BBS12_uc003ieu.3_Missense_Mutation_p.S629C|BBS12_uc021xrn.1_Missense_Mutation_p.S629C	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	629					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GCCACAGACTCTGGCTCTCCT	0.348									Bardet-Biedl syndrome				0	1	0	0	0	61	17
LRRC17	10234	broad.mit.edu	37	7	102574783	102574783	+	Missense_Mutation	SNP	C	G	G			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr7:102574783C>G	uc003vau.3	+	1	812	c.423C>G	c.(421-423)atC>atG	p.I141M	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Missense_Mutation_p.I141M	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	141					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACAACCAGATCAAAGTCTTGA	0.448													0	1	0	0	0	83	6
FLOT2	2319	broad.mit.edu	37	17	27209047	27209047	+	Splice_Site	SNP	C	A	A			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr17:27209047C>A	uc002hdc.3	-	8	823	c.700_splice	c.e8-1	p.T234_splice		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	234					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCTCAGCTGTCTGTGGCAAGA	0.567													1.17E-03	1	1.17E-03	0	1	52	5
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	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	1	0	0	0	79	24
CRYM	1428	broad.mit.edu	37	16	21272640	21272640	+	Missense_Mutation	SNP	A	T	T			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr16:21272640A>T	uc002dim.3	-	8	1113	c.815T>A	c.(814-816)cTg>cAg	p.L272Q	CRYM_uc010bwq.1_Non-coding_Transcript|CRYM_uc002dil.3_Missense_Mutation_p.L230Q	NM_001888	NP_001014444	Q14894	CRYM_HUMAN	Homo sapiens crystallin, mu (CRYM), transcript variant 1, mRNA.	272					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CACTTCTCCCAGCTCAGCAAA	0.507													0	1	0	0	0	35	10
CKAP4	10970	broad.mit.edu	37	12	106633705	106633705	+	Silent	SNP	G	A	A			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr12:106633705G>A	uc001tlk.3	-	1	990	c.906C>T	c.(904-906)tcC>tcT	p.S302S		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.	302						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCCACTCTCTGGACTTGGCTG	0.537													0	1	0	0	0	136	24
IMPG1	3617	broad.mit.edu	37	6	76751735	76751735	+	Missense_Mutation	SNP	C	T	T	rs147225489	byFrequency	TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr6:76751735C>T	uc003pik.1	-	1	306	c.176G>A	c.(175-177)cGa>cAa	p.R59Q		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	59					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATCGAATATTCGTCTCATAGT	0.358													0	1	0	0	0	81	40
