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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
COG2	22796	broad.mit.edu	37	1	230807286	230807286	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr1:230807286T>G	uc001htw.3	+	7	950	c.799T>G	c.(799-801)Tct>Gct	p.S267A	COG2_uc001htx.3_Missense_Mutation_p.S267A|COG2_uc010pwc.2_Missense_Mutation_p.S140A	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	267					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTTTGTTGAATCTCATCCCAA	0.373000														45			7		0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523049	49523049	+	Silent	SNP	A	G	G	rs1057072		TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr12:49523049A>G	uc001rtm.3	-	2	572	c.351T>C	c.(349-351)ctT>ctC	p.L117L	TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_Silent_p.L82L	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	117					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGTCCAACACAAGGTCAATGA	0.488000														74			4		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239464	65239464	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr14:65239464G>T	uc001xht.3	-	24	5438	c.5387C>A	c.(5386-5388)tCc>tAc	p.S1796Y	SPTB_uc001xhr.3_Missense_Mutation_p.S1796Y|SPTB_uc001xhs.3_Missense_Mutation_p.S1796Y|SPTB_uc001xhu.3_Missense_Mutation_p.S1796Y|SPTB_uc010aqi.3_Missense_Mutation_p.S457Y	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1796					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGGTCATAGGAGGCGGCCAG	0.662000														34			4		0.0215528	0.0236054	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201081402	201081402	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr1:201081402C>A	uc001gvv.3	-	0	293	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	22					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTGGCAGAATCTCAGGAACTG	0.582000														54			5		0.000602214	0.000692547	1	1	0
PLA2G4D	283748	broad.mit.edu	37	15	42371952	42371952	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr15:42371952A>G	uc001zox.3	-	12	1195	c.1100T>C	c.(1099-1101)aTg>aCg	p.M367T		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	367	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CAGGTGGGCCATTGTCCTGGA	0.627000														15			3		0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24035813	24035813	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr14:24035813T>C	uc001wkl.2	-	2	624	c.287A>G	c.(286-288)gAg>gGg	p.E96G	AP1G2_uc001wkk.3_Intron|AP1G2_uc001wkn.2_Intron|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.E96G|AP1G2_uc010aks.3_Intron|AP1G2_uc010akt.3_Intron|AP1G2_uc010tnq.1_Intron	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	96					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		ATCGTGCCTCTCATCCAATAG	0.537000														80			8		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20435364	20435364	+	Silent	SNP	C	A	A			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr16:20435364C>A	uc002dhe.3	+	5	1041	c.894C>A	c.(892-894)ccC>ccA	p.P298P		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	298					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGAGCTGCCCCGAGTTGATG	0.463000														22			4		0.150653	0.150653	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56435981	56435981	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr19:56435981T>G	uc010ygg.2	-	2	457	c.432A>C	c.(430-432)gaA>gaC	p.E144D		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	144							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCTCGTCTAGTTCTTCTTGGT	0.433000														33			3		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91961	91961	+	RNA	SNP	C	T	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chrGL000211.1:91961C>T	uc003bnz.1	+	6		c.1317C>T			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTATAGATTTCCATTATTGTC	0.308000														6			3		0	0	1	0	0
AMD1	262	broad.mit.edu	37	6	111210061	111210061	+	Splice_Site	SNP	G	C	C			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr6:111210061G>C	uc003puk.1	+	3	520	c.198_splice	c.e3-1	p.S66_splice	AMD1_uc011eay.1_Splice_Site|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Splice_Site_p.S37_splice|AMD1_uc011eba.1_Intron	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	66					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	CAACTGCAGTGAGAGTAGCAT	0.383000														25			4		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71896855	71896855	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr2:71896855A>T	uc010fen.3	+	50	5904	c.5763A>T	c.(5761-5763)caA>caT	p.Q1921H	DYSF_uc010fei.3_Missense_Mutation_p.Q1899H|DYSF_uc010feh.3_Missense_Mutation_p.Q1889H|DYSF_uc002sig.4_Missense_Mutation_p.Q1868H|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.Q1913H|DYSF_uc010fee.3_Missense_Mutation_p.Q1903H|DYSF_uc010fef.3_Missense_Mutation_p.Q1920H|DYSF_uc002sie.3_Missense_Mutation_p.Q1882H|DYSF_uc010feo.3_Missense_Mutation_p.Q1914H|DYSF_uc010fej.3_Missense_Mutation_p.Q1890H|DYSF_uc010fel.3_Missense_Mutation_p.Q1869H|DYSF_uc010fem.3_Missense_Mutation_p.Q1904H|DYSF_uc002sif.3_Missense_Mutation_p.Q1883H|DYSF_uc010fek.3_Missense_Mutation_p.Q1900H|DYSF_uc010yqy.2_Missense_Mutation_p.Q763H|DYSF_uc010yqz.2_Missense_Mutation_p.Q643H	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1882						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGCTGAGCAAGTCTGTACCA	0.532000														32			5		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	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	0.368000	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					21			3		0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40220558	40220558	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr7:40220558T>C	uc022acd.1	+	1	158	c.134T>C	c.(133-135)aTa>aCa	p.I45T	C7orf10_uc003thn.2_Missense_Mutation_p.I45T|C7orf10_uc003tho.2_Missense_Mutation_p.I45T	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	45							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATGAACAATATAAAGCCATTG	0.308000														56			7		0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67546931	67546931	+	Silent	SNP	A	G	G			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr8:67546931A>G	uc003xwn.3	-	2	3733	c.3474T>C	c.(3472-3474)ccT>ccC	p.P1158P		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	1158					protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GAAAAGATTCAGGCAAACCAG	0.443000														49			3		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210296	100210296	+	Silent	SNP	C	T	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr2:100210296C>T	uc002taf.3	-	13	2046	c.1902G>A	c.(1900-1902)gcG>gcA	p.A634A	AFF3_uc002tag.3_Silent_p.A609A|AFF3_uc010fiq.1_Silent_p.A609A|AFF3_uc010yvr.1_Silent_p.A762A|AFF3_uc002tah.1_Silent_p.A634A	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	609					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGTCCGCGGCCGCGGGCTCCT	0.746000														18			3		0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994014	45994014	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr21:45994014C>T	uc002zfk.1	+	0	409	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	127	36 X 5 AA repeats of C-C-X(3).					keratin filament		p.P127S(4)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GTGCTGTGTGCCCGTCTGCTG	0.642000														106			4		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803157	157803157	+	Silent	SNP	C	T	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr1:157803157C>T	uc001frk.4	-	4	1007	c.864G>A	c.(862-864)ggG>ggA	p.G288G		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	288	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGAGGGACTTCCCACAGCCCA	0.592000														44			4		0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	-	-	rs71796067		TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													---	2	---	---	4	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	-	-	rs60664426		TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr6:42989414_42989419delGCCGGG	uc003otp.1	+	0	30_35	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	14					rRNA processing|ribosomal small subunit biogenesis	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													---	3	---	---	4	---					
