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
BDH1	622	broad.mit.edu	37	3	197238954	197238954	+	Missense_Mutation	SNP	C	T	T	rs145598252		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:197238954C>T	uc003fxr.3	-	7	1246	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	BDH1_uc003fxs.3_Missense_Mutation_p.A282T|BDH1_uc003fxu.3_Missense_Mutation_p.A282T	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	282					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TCCATCTTGGCGATCTTTTCA	0.582													0	1	0	0	0	107	71
OR52N2	390077	broad.mit.edu	37	11	5841775	5841775	+	Missense_Mutation	SNP	C	G	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr11:5841775C>G	uc010qzp.2	+	0	210	c.210C>G	c.(208-210)ttC>ttG	p.F70L	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F70F(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTCTCCTTCACTGATGTCA	0.537													0	1	0	0	0	203	3
LRRC36	55282	broad.mit.edu	37	16	67401213	67401213	+	Missense_Mutation	SNP	A	G	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr16:67401213A>G	uc002esv.3	+	7	1067	c.1048A>G	c.(1048-1050)Agg>Ggg	p.R350G	LRRC36_uc002esw.3_Intron|LRRC36_uc010ceh.3_Intron|LRRC36_uc002esx.3_Missense_Mutation_p.R229G|LRRC36_uc010vjk.2_Missense_Mutation_p.R229G|LRRC36_uc010vjl.2_Intron	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	350										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCTTGGTAAAAGGCCTCAGAG	0.403													0	1	0	0	0	122	3
ULK3	25989	broad.mit.edu	37	15	75134762	75134762	+	Splice_Site	SNP	C	G	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr15:75134762C>G	uc010ulq.1	-	2	139	c.136_splice	c.e2-1	p.K46_splice	ULK3_uc010ulp.1_Splice_Site|ULK3_uc010ulr.1_Splice_Site|ULK3_uc010bkf.1_Splice_Site_p.K35_splice|ULK3_uc002ayv.2_Splice_Site_p.K35_splice|ULK3_uc010uls.1_Splice_Site|ULK3_uc010ult.1_Splice_Site|ULK3_uc010ulu.1_Splice_Site	NM_001099436	NP_001092906	Q6PHR2	ULK3_HUMAN	Homo sapiens unc-51-like kinase 3 (C. elegans) (ULK3), mRNA.	35	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GAGTGTCCTTCTGCGAGACAG	0.557													0	1	0	0	0	168	65
NBPF10	100132406	broad.mit.edu	37	1	145328378	145328378	+	Missense_Mutation	SNP	T	C	C			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr1:145328378T>C	uc021oul.1	+	32	4261	c.4226T>C	c.(4225-4227)aTt>aCt	p.I1409T	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	1409										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)		ATTGCAGGAATTAAAAAGGAC	0.463													0	1	0	0	0	51	3
KIAA1244	57221	broad.mit.edu	37	6	138584107	138584107	+	Missense_Mutation	SNP	G	A	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr6:138584107G>A	uc003qhu.3	+	11	1658	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	496					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGAGTCAGGGAACGAGAGG	0.592													0	1	0	0	0	3	3
PODXL2	50512	broad.mit.edu	37	3	127379384	127379384	+	Silent	SNP	G	A	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:127379384G>A	uc003ejq.2	+	2	537	c.513G>A	c.(511-513)gaG>gaA	p.E171E		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	171	Glu-rich.				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						aggaagaggaggagagggaga	0.557													0	1	0	0	0	71	3
SEC61A1	29927	broad.mit.edu	37	3	127779461	127779461	+	Silent	SNP	C	A	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:127779461C>A	uc003ekb.3	+	6	757	c.573C>A	c.(571-573)atC>atA	p.I191I	SEC61A1_uc003ekc.3_Silent_p.I138I|SEC61A1_uc003ekd.3_Silent_p.I71I	NM_013336	NP_037468	P61619	S61A1_HUMAN	Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.	191					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GTGAAACCATCGTATGGAAGG	0.478													1	1	1	0	1	58	3
UTRN	7402	broad.mit.edu	37	6	145021242	145021242	+	Missense_Mutation	SNP	G	T	T			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr6:145021242G>T	uc003qkt.3	+	51	7764	c.7672G>T	c.(7672-7674)Gct>Tct	p.A2558S		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2558					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAGGCCAGCGCTGAGAAGTG	0.373													1.62E-01	1	1.51E-01	0	1	54	3
C3orf15	89876	broad.mit.edu	37	3	119462867	119462867	+	Silent	SNP	C	T	T			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:119462867C>T	uc003ede.4	+	13	1803	c.1726C>T	c.(1726-1728)Cta>Tta	p.L576L	C3orf15_uc010hqz.3_Silent_p.L514L|C3orf15_uc011bjd.2_Silent_p.L450L|C3orf15_uc011bje.2_Silent_p.L556L	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	412						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AGGAAGGGCACTAGCAGACAT	0.488													0	1	0	0	0	60	54
OR56A5	390084	broad.mit.edu	37	11	5989487	5989487	+	Missense_Mutation	SNP	C	T	T			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr11:5989487C>T	uc010qzu.2	-	0	238	c.238G>A	c.(238-240)Gtc>Atc	p.V80I		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	80						integral to membrane|plasma membrane	olfactory receptor activity										TTGGGGATGACGGTGAGGCAG	0.532													0	1	0	0	0	72	40
ABCB7	22	broad.mit.edu	37	X	74296488	74296488	+	Splice_Site	SNP	G	A	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chrX:74296488G>A	uc004ebz.3	-	5	482	c.457_splice	c.e5-1	p.A153_splice	ABCB7_uc010nlt.3_Splice_Site_p.A112_splice|ABCB7_uc004eca.3_Splice_Site_p.A152_splice|ABCB7_uc011mqn.2_Splice_Site_p.A126_splice|ABCB7_uc010nls.3_Splice_Site_p.A113_splice	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	152	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AATATTCATGGCCTAAAAACA	0.318													0	1	0	0	0	35	3
DTX1	1840	broad.mit.edu	37	12	113533162	113533162	+	Missense_Mutation	SNP	C	A	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr12:113533162C>A	uc001tuk.1	+	7	1917	c.1581C>A	c.(1579-1581)ttC>ttA	p.F527L		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	527					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAAGAAGTTCACCGCAAGAG	0.597													1	1	1	0	1	173	5
GJA4	2701	broad.mit.edu	37	1	35260771	35260771	+	Silent	SNP	C	G	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr1:35260771C>G	uc009vul.3	+	1	1209	c.1185C>G	c.(1183-1185)ccC>ccG	p.P395P	GJA4_uc001bya.3_Silent_p.P319P|GJA4_uc009vum.1_Silent_p.P319P|GJA4_uc021olb.1_Silent_p.P319P	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	319					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCCAAAAACCCCCAAGTCGTC	0.587													0	1	0	0	0	51	13
BCAM	4059	broad.mit.edu	37	19	45317503	45317503	+	Silent	SNP	G	A	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr19:45317503G>A	uc002ozu.3	+	6	923	c.879G>A	c.(877-879)ggG>ggA	p.G293G	BCAM_uc002ozt.1_Silent_p.G293G	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	293	Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCTGCCGGGGGGACGGCAGCC	0.672													0	1	0	0	0	82	83
DCX	1641	broad.mit.edu	37	X	110654079	110654079	+	Missense_Mutation	SNP	A	C	C			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chrX:110654079A>C	uc004epd.3	-	0	296	c.124T>G	c.(124-126)Tca>Gca	p.S42A	DCX_uc011msv.2_Missense_Mutation_p.S42A|DCX_uc004epe.3_Intron|DCX_uc004epf.3_Intron|DCX_uc004epg.3_Intron	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	42					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTTGTAAATGAATCCATAGCC	0.423													0	1	0	0	0	174	7
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	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	44	26
SOX14	8403	broad.mit.edu	37	3	137484265	137484265	+	Silent	SNP	G	A	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:137484265G>A	uc003erm.2	+	0	1132	c.639G>A	c.(637-639)caG>caA	p.Q213Q		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	213					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCACCCTGCAGCCCCCCGTCG	0.657													0	1	0	0	0	72	4
SCN3A	6328	broad.mit.edu	37	2	165952089	165952089	+	Missense_Mutation	SNP	C	A	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr2:165952089C>A	uc002ucx.3	-	24	4855	c.4363G>T	c.(4363-4365)Ggg>Tgg	p.G1455W	SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Missense_Mutation_p.G1406W|SCN3A_uc002ucz.3_Missense_Mutation_p.G1406W	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1455						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F1454S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAGAATGACCCAAAGATGATA	0.284													1.29E-01	1	1.15E-01	0	1	56	3
TAS2R46	259292	broad.mit.edu	37	12	11214130	11214130	+	Missense_Mutation	SNP	A	G	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr12:11214130A>G	uc001qzp.1	-	0	764	c.764T>C	c.(763-765)cTg>cCg	p.L255P	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176887	NP_795368	P59540	T2R46_HUMAN	Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.	255					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTGTTTTCCAGACTCTCAAA	0.418													0	1	0	0	0	122	6
RAVER1	125950	broad.mit.edu	37	19	10431412	10431412	+	Silent	SNP	G	A	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr19:10431412G>A	uc002moa.3	-	8	1820	c.1740C>T	c.(1738-1740)tcC>tcT	p.S580S	RAVER1_uc002mnz.3_5'Flank	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	433						cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGAGCAGGCGGGACTTGAGCT	0.697													0	1	0	0	0	19	3
HAP1	9001	broad.mit.edu	37	17	39888235	39888237	+	In_Frame_Del	DEL	CTT	-	-	rs150945451	byFrequency	TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr17:39888235_39888237delCTT	uc002hxm.1	-	3	860_862	c.848_850delAAG	c.(847-852)gaagca>gca	p.E283del	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_In_Frame_Del_p.E283del|HAP1_uc002hxo.1_In_Frame_Del_p.E291del|HAP1_uc002hxp.1_In_Frame_Del_p.E283del	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	283	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			tcttcctctgcttcttcttcttc	0.507																		4	2
