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
ANKRD5	63926	broad.mit.edu	37	20	10025162	10025162	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:10025162C>G	uc002wno.3	+	4	1060	c.667C>G	c.(667-669)Cat>Gat	p.H223D	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.H223D|ANKRD5_uc010gbz.3_Missense_Mutation_p.H34D	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	223							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						TCACGCTGCTCATTTTGCTGC	0.368000													14	140					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12695656	12695656	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr9:12695656C>T	uc003zkv.4	+	2	705	c.527C>T	c.(526-528)aCg>aTg	p.T176M		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	176					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GATGGCAACACGCCACAATTT	0.448000									Oculocutaneous Albinism				24	79					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18633034	18633034	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:18633034C>T	uc001moy.3	-	4	2170	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K		NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	652										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTCTTTGCTTCTTCCTTCTGC	0.353000													8	82					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50894771	50894771	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr22:50894771G>C	uc003blh.3	-	30	4335	c.4140C>G	c.(4138-4140)ttC>ttG	p.F1380L	SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Missense_Mutation_p.F1018L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1354	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGTGCCTCGAATACCTCAA	0.617000													5	43					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38958277	38958277	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:38958277A>T	uc002oit.3	+	24	3336	c.3206A>T	c.(3205-3207)gAc>gTc	p.D1069V	RYR1_uc002oiu.3_Missense_Mutation_p.D1069V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1069	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTCGTTGTGACCGGGTGCGC	0.557000													23	109					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54418665	54418665	+	Silent	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:54418665C>T	uc002qcr.2	+	2	425	c.330C>T	c.(328-330)ctC>ctT	p.L110L	CACNG7_uc010era.2_Silent_p.L110L	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	110					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCCTCTTCCTCGTGTTCACGG	0.607000													7	81					0	0	1	0	0
DOLK	22845	broad.mit.edu	37	9	131709562	131709562	+	Silent	SNP	A	A	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr9:131709562A>G	uc004bwr.3	-	0	451	c.21T>C	c.(19-21)tcT>tcC	p.S7S	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	Homo sapiens dolichol kinase (DOLK), mRNA.	7					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCGGGGCCGGAGATGGGCACT	0.667000													11	27					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416999	105416999	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr14:105416999C>G	uc010axc.1	-	6	4909	c.4789G>C	c.(4789-4791)Gat>Cat	p.D1597H	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D1497H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1597						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTAACATCTATCTGGGGC	0.607000													7	89					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938639	14938639	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:14938639G>T	uc010xoa.2	-	1	503	c.415C>A	c.(415-417)Cac>Aac	p.H139N	OR7A5_uc002mzw.3_Missense_Mutation_p.H139N	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CCACAGAGGTGAGGGTTCATA	0.498000													11	54					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543797	141543797	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr4:141543797G>C	uc010ioj.3	-	20	3625	c.3353C>G	c.(3352-3354)gCc>gGc	p.A1118G		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1118						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCTGTCGGGGGCCAGGCTGGC	0.657000													12	41					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6068514	6068514	+	Silent	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:6068514G>A	uc002wmr.3	-	10	2070	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	FERMT1_uc002wmq.3_5'UTR|FERMT1_uc010gbt.3_Silent_p.P170P|FERMT1_uc002wms.3_Silent_p.P427P	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	427	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CATTTACATCGGGCACAACTT	0.383000													26	100					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133220461	133220461	+	Silent	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:133220461G>A	uc001uks.1	-	32	4296	c.4252C>T	c.(4252-4254)Ctg>Ttg	p.L1418L	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.L222L|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.L1391L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1418					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGCGCTGACAGCTCAGCGTTG	0.542000								DNA polymerases (catalytic subunits)					3	41					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143691563	143691563	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr3:143691563C>G	uc003evo.3	+	0	924	c.389C>G	c.(388-390)aCc>aGc	p.T130S	C3orf58_uc011bnl.2_5'Flank	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	130						COPI vesicle coat|extracellular region		p.T130P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGCGGGCCACCGGCCGGCCC	0.766000													3	11					0	0	1	0	0
PRSS48	345062	broad.mit.edu	37	4	152203401	152203401	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr4:152203401C>A	uc011cif.2	+	2	317	c.317C>A	c.(316-318)cCc>cAc	p.P106H	PRSS48_uc011cig.2_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	106	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GTCATCCATCCCAAGTACCAA	0.468000													10	190					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78362950	78362950	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr17:78362950C>A	uc010dhx.2	+	2	922	c.29C>A	c.(28-30)cCt>cAt	p.P10H	RNF213_uc002jyh.2_Intron|RNF213_uc021uen.1_Intron|LOC100294362_uc002jyi.2_Intron			Q9HCF4	ALO17_HUMAN	Homo sapiens mRNA for KIAA1554 protein, partial cds.	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGACATCCCTCTCCTGCTT	0.582000													3	67					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31851280	31851280	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr22:31851280G>C	uc003akz.2	-	8	1319	c.1121C>G	c.(1120-1122)tCt>tGt	p.S374C	EIF4ENIF1_uc003akx.2_Missense_Mutation_p.S53C|EIF4ENIF1_uc003aky.2_Missense_Mutation_p.S53C|EIF4ENIF1_uc003ala.2_Missense_Mutation_p.S374C|EIF4ENIF1_uc003alb.2_Missense_Mutation_p.S211C	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	374						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGTCCAGGAGAGAGGATGGC	0.378000													6	46					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183882940	183882940	+	Silent	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr3:183882940G>A	uc003fms.3	+	5	779	c.639G>A	c.(637-639)ctG>ctA	p.L213L	DVL3_uc011bqw.2_Silent_p.L213L|DVL3_uc003fmt.3_5'UTR|DVL3_uc003fmu.3_Silent_p.L45L	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	213					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.R212C(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTCACGCCTGATGAGAAGAC	0.642000													5	59					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137595283	137595283	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr5:137595283C>G	uc003lcn.3	-	2	575	c.435G>C	c.(433-435)tgG>tgC	p.W145C	GFRA3_uc003lco.3_Intron	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	145					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GATTCATTTTCCAGGGTTTGC	0.557000													14	74					0	0	1	0	0
PTGR2	145482	broad.mit.edu	37	14	74340912	74340912	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr14:74340912G>A	uc001xow.3	+	3	503	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	PTGR2_uc010tue.2_Missense_Mutation_p.E115K|PTGR2_uc001xox.3_Missense_Mutation_p.E115K|ZNF410_uc001xoy.2_Non-coding_Transcript	NM_001146154	NP_689657	Q8N8N7	PTGR2_HUMAN	Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.	115					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						AAATAGCCTTGAAAAGGTGAT	0.328000													9	77					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62121972	62121972	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:62121972C>T	uc002yfe.1	-	5	1055	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	297						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCAGAGCCTCGTGGTGCATC	0.627000													23	91					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371297	55371297	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:55371297G>T	uc010rii.2	-	0	578	c.553C>A	c.(553-555)Ctt>Att	p.L185I		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L185L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATGCAGGCAAGTTTCAACAAG	0.393000													18	77					0	0	1	0	0
HSD3B7	80270	broad.mit.edu	37	16	30997755	30997755	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr16:30997755G>A	uc002eaf.2	+	3	440	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	HSD3B7_uc010cac.2_Missense_Mutation_p.V112M|HSD3B7_uc002eag.2_Missense_Mutation_p.V112M|HSD3B7_uc002eah.2_Missense_Mutation_p.V112M	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.	112					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TACCCGGAACGTGATCGAGGC	0.577000													10	30					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23775294	23775294	+	Silent	SNP	A	A	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr7:23775294A>T	uc003sws.4	+	6	688	c.621A>T	c.(619-621)ggA>ggT	p.G207G	STK31_uc003swt.4_Silent_p.G184G|STK31_uc011jze.2_Silent_p.G207G|STK31_uc010kuq.3_Silent_p.G184G	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	207							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAAGAAAGGATTTGCAGAGA	0.413000													27	71					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115120663	115120663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:115120663G>A	uc001tvt.1	-	0	1307	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	TBX3_uc001tvu.1_Nonsense_Mutation_p.Q115*|TBX3_uc010syw.1_Nonsense_Mutation_p.Q115*	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	115					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGTGAAACTGATCCCAAAGT	0.572000													7	64					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48798637	48798638	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr8:48798637_48798638GC>AA	uc003xqi.3	-	36	4697_4698	c.4640_4641GC>TT	c.(4639-4641)ggc>gTT	p.G1547V	PRKDC_uc003xqj.3_Missense_Mutation_p.G1547V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1548					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGATGACGCTGCCCTGTGAGCT	0.495000								Non-homologous end-joining					14	41					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48802244	48802244	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:48802244C>T	uc001zwx.2	-	13	2106	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	571	EGF-like 8; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTATTACCTTCACAGTTCTTC	0.408000													6	56					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43173160	43173160	+	Splice_Site	SNP	C	C	T	rs148718257	byFrequency	TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr6:43173160C>T	uc003ouk.3	+	24	4868	c.4793_splice	c.e24+1	p.Q1598_splice	CUL9_uc003oul.3_Splice_Site_p.Q1598_splice|CUL9_uc010jyk.3_Splice_Site_p.Q750_splice	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1598					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCACTTCTATCAGTGAGTGCA	0.517000													14	141					0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45695663	45695663	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:45695663C>T	uc001zve.3	+	0	1145	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	BC039389_uc001zvd.3_5'Flank|SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	346						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGCCACTAACCGGCCGGACGC	0.682000													3	66					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12161971	12161971	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr6:12161971G>A	uc003nac.3	+	7	6966	c.6787G>A	c.(6787-6789)Gca>Aca	p.A2263T	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2263					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCTGAGCACAGCACAGTCTGA	0.552000													3	70					0	0	1	0	0
WDR76	79968	broad.mit.edu	37	15	44120432	44120432	+	Silent	SNP	A	A	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:44120432A>G	uc001zti.2	+	1	449	c.330A>G	c.(328-330)caA>caG	p.Q110Q	WDR76_uc021skg.1_Silent_p.Q46Q	NM_024908	NP_001161413	Q9H967	WDR76_HUMAN	Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.	110										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CCACGCTGCAAAATTCATCCT	0.408000													24	69					0	0	1	0	0
DUSP5	1847	broad.mit.edu	37	10	112262508	112262508	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr10:112262508C>G	uc001kzd.3	+	1	664	c.409C>G	c.(409-411)Cct>Gct	p.P137A		NM_004419	NP_004410	Q16690	DUS5_HUMAN	Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.	137	Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CTCGGAATATCCTGAGTGTTG	0.423000													17	74					0	0	1	0	0
C15orf63	25764	broad.mit.edu	37	15	44093955	44093955	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:44093955G>A	uc001ztb.3	+	5	962	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_Missense_Mutation_p.R114Q|C15orf63_uc021skf.1_3'UTR|C15orf63_uc001ztg.1_3'UTR	NM_016400	NP_057484	Q9NX55	HYPK_HUMAN	Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA.	114										endometrium(1)|large_intestine(1)|ovary(1)	3						CGCAGTTTGCGGGAACACATG	0.428000													11	61					0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150727538	150727538	+	Missense_Mutation	SNP	C	C	T	rs140031053	by1000genomes	TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr1:150727538C>T	uc001evn.3	-	3	599	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	CTSS_uc010pcj.2_Intron	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	113			R -> W (in dbSNP:rs2230061).		immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	p.R113L(2)|p.R113W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGGCAATATCCGATTAGGGTT	0.433000													20	215					0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	153003678	153003678	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr2:153003678G>C	uc002tyc.4	-	4	795	c.445C>G	c.(445-447)Cag>Gag	p.Q149E	STAM2_uc010foa.1_Missense_Mutation_p.Q149E|STAM2_uc002tyd.3_Missense_Mutation_p.Q149E	NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	149					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TCTCTCACCTGAGAACCTGCT	0.363000													8	122					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49320810	49320810	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:49320810C>T	uc001zxe.2	-	4	998	c.734G>A	c.(733-735)gGc>gAc	p.G245D	SECISBP2L_uc001zxd.2_Missense_Mutation_p.G245D|SECISBP2L_uc010bep.2_Missense_Mutation_p.G7D|SECISBP2L_uc010beq.2_Intron	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	245										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCTTCTCCTGCCCTTGGACTT	0.473000													7	93					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	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				10	57					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	587445	587445	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:587445G>A	uc001lqe.3	+	3	532	c.401G>A	c.(400-402)tGc>tAc	p.C134Y	PHRF1_uc010qwc.2_Missense_Mutation_p.C134Y|PHRF1_uc010qwd.2_Missense_Mutation_p.C133Y|PHRF1_uc010qwe.2_Missense_Mutation_p.C130Y	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	134							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGCCTGGACTGCATTGTCGAA	0.557000													4	89					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185788	8185788	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr8:8185788G>A	uc003wsh.4	-	3	2504	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	835							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGGCTTGGGGGAGCCTTGGGT	0.607000													35	132					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39716485	39716485	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:39716485G>A	uc001rly.3	-	26	4076	c.3656C>T	c.(3655-3657)tCt>tTt	p.S1219F	KIF21A_uc001rlv.3_Missense_Mutation_p.S224F|KIF21A_uc001rlw.3_Missense_Mutation_p.S536F|KIF21A_uc001rlx.3_Missense_Mutation_p.S1206F|KIF21A_uc001rlz.3_Missense_Mutation_p.S1183F|KIF21A_uc010skl.2_Missense_Mutation_p.S1199F	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1219					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCCTATCTTAGAAGGTAAGCC	0.403000													8	84					0	0	1	0	0
WDR45L	56270	broad.mit.edu	37	17	80583323	80583323	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr17:80583323G>C	uc002kfq.3	-	4	564	c.369C>G	c.(367-369)ttC>ttG	p.F123L	WDR45L_uc002kfr.3_Non-coding_Transcript	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	Homo sapiens WDR45-like (WDR45L), mRNA.	123					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			GTGTGAATGTGAACACCTTAA	0.453000													6	62					0	0	1	0	0
