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
C1orf172	126695	broad.mit.edu	37	1	27278146	27278146	+	Silent	SNP	G	G	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:27278146G>T	uc001bni.2	-	1	819	c.726C>A	c.(724-726)ctC>ctA	p.L242L	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	242										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCTTGAAGATGAGCACATCAA	0.532000													9	35					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85472299	85472299	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:85472299C>T	uc003pkl.1	-	1	460	c.460G>A	c.(460-462)Gag>Aag	p.E154K	TBX18_uc010kbq.2_5'UTR	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	154					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTGCCTATCTCATGAAAGCGC	0.672000													25	97					0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85532449	85532449	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:85532449G>A	uc002soy.3	+	7	1137	c.912G>A	c.(910-912)ggG>ggA	p.G304G		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	304	Pro-rich.				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCACCTCAGGGATCCCCCACC	0.627000													22	55					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33510667	33510667	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr10:33510667A>G	uc001iwx.4	-	7	1785	c.1262T>C	c.(1261-1263)gTa>gCa	p.V421A	NRP1_uc001iwv.4_Missense_Mutation_p.V421A|NRP1_uc001iwy.4_Missense_Mutation_p.V421A|NRP1_uc009xlz.3_Missense_Mutation_p.V421A|NRP1_uc001iww.4_Missense_Mutation_p.V240A|NRP1_uc001iwz.2_Missense_Mutation_p.V421A|NRP1_uc001ixa.2_Missense_Mutation_p.V421A|NRP1_uc001ixb.2_Missense_Mutation_p.V421A|NRP1_uc001ixc.1_Missense_Mutation_p.V421A	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	421	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCAACCGTATACTTCAAATCT	0.393000													38	72					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6635194	6635194	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:6635194G>A	uc001ant.3	+	2	1098	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Silent_p.L256L	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	334					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCTGGCCTGAAGGCGTTTG	0.632000													12	26					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100695160	100695160	+	Silent	SNP	C	C	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:100695160C>A	uc003uxp.1	+	8	13073	c.13020C>A	c.(13018-13020)atC>atA	p.I4340I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4340						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATACTGCATCAGCCCCTGTG	0.577000													26	109					0	0	1	0	0
TMEM47	83604	broad.mit.edu	37	X	34648444	34648444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chrX:34648444C>A	uc004ddh.3	-	2	791	c.532G>T	c.(532-534)Gaa>Taa	p.E178*	TMEM47_uc010ngs.3_Non-coding_Transcript	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	Homo sapiens transmembrane protein 47 (TMEM47), mRNA.	178						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TAGTAGTCTTCATAGTTCTTA	0.398000													19	48					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151856077	151856077	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:151856077C>G	uc003wla.3	-	43	11760	c.11541G>C	c.(11539-11541)aaG>aaC	p.K3847N	MLL3_uc003wkz.3_Missense_Mutation_p.K2908N|MLL3_uc003wkx.3_5'Flank|MLL3_uc003wky.3_Missense_Mutation_p.K1356N	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3847					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTCGCTGTTTCTTGGTTTCAC	0.458000			N		medulloblastoma								27	98					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56438569	56438569	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:56438569C>G	uc003pcy.4	-	31	5383	c.5275G>C	c.(5275-5277)Gac>Cac	p.D1759H	DST_uc010kaa.1_Non-coding_Transcript	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	4171					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCATCCAGTCCAGCATTTCA	0.403000													16	52					0	0	1	0	0
PGAP2	27315	broad.mit.edu	37	11	3845543	3845543	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:3845543C>G	uc010qyb.2	+	5	610	c.472C>G	c.(472-474)Cgg>Ggg	p.R158G	PGAP2_uc001lyl.3_Silent_p.L172L|PGAP2_uc010qxy.2_Silent_p.L211L|PGAP2_uc010qxw.2_Silent_p.L272L|PGAP2_uc001lyn.4_Missense_Mutation_p.R108G|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc001lys.3_Silent_p.L215L|PGAP2_uc001lyt.3_5'UTR|PGAP2_uc021qcm.1_Silent_p.L154L	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.	0					GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CCTCATCCCTCGGGCACATGC	0.562000													24	64					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138258373	138258373	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:138258373C>T	uc003vuc.3	+	11	2215	c.2000C>T	c.(1999-2001)tCt>tTt	p.S667F	TRIM24_uc003vub.3_Missense_Mutation_p.S633F	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	667					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TCAGTGCCATCTCCAGGCCTT	0.398000													14	54					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73461349	73461349	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr9:73461349G>C	uc004aid.3	-	3	865	c.621C>G	c.(619-621)ctC>ctG	p.L207L	TRPM3_uc004ahu.3_Silent_p.L37L|TRPM3_uc004ahv.3_Silent_p.L37L|TRPM3_uc004ahw.3_Silent_p.L54L|TRPM3_uc004ahx.3_Silent_p.L54L|TRPM3_uc004ahy.3_Silent_p.L54L|TRPM3_uc004ahz.3_Silent_p.L54L|TRPM3_uc004aia.3_Silent_p.L54L|TRPM3_uc004aib.3_Silent_p.L54L|TRPM3_uc004aic.3_Silent_p.L207L|TRPM3_uc010mor.3_Silent_p.L207L|TRPM3_uc004aie.3_Silent_p.L54L|TRPM3_uc004aif.3_Silent_p.L54L|TRPM3_uc004aig.3_Silent_p.L54L|TRPM3_uc004aii.3_Silent_p.L209L	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	207						integral to membrane	calcium channel activity	p.A206S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGCTTTGATGAGCCCTTTCC	0.483000													26	130					0	0	1	0	0
ZNF436	80818	broad.mit.edu	37	1	23688762	23688762	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:23688762G>A	uc001bgt.3	-	2	1494	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	ZNF436_uc001bgu.3_Silent_p.F371F	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCTCCGGCTGAAGCTTTTCC	0.468000													18	59					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125612771	125612771	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr12:125612771G>C	uc001uhc.3	+	12	1580	c.1374G>C	c.(1372-1374)gaG>gaC	p.E458D	AACS_uc001uhd.3_Missense_Mutation_p.E458D|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_Missense_Mutation_p.E56D	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	458					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATAAAGGGGAGATTCAGGCCC	0.512000													7	20					0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19118936	19118936	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr22:19118936G>A	uc002zow.2	+	0	616	c.24G>A	c.(22-24)agG>agA	p.R8R	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	8					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CAGTCCTAAGGAAGAAGGGTT	0.542000													10	34					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44135735	44135735	+	Splice_Site	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:44135735G>A	uc001mya.3	+	4	782	c.726_splice	c.e4-1	p.R242_splice	EXT2_uc010rfo.2_Splice_Site_p.R237_splice|EXT2_uc009ykt.3_Splice_Site_p.R209_splice|EXT2_uc001mxz.3_Splice_Site_p.R209_splice	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	209					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTGCTTTCAGGGCCCTGTTGG	0.443000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				7	108					0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36250713	36250713	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:36250713G>C	uc021usz.1	+	2	205	c.132G>C	c.(130-132)caG>caC	p.Q44H	HSPB6_uc002obn.1_5'Flank|C19orf55_uc002obo.1_Missense_Mutation_p.Q44H|C19orf55_uc002obp.3_Missense_Mutation_p.Q44H	NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	44										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGTCTCAGAGATCCAGGC	0.577000													3	3					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1269281	1269281	+	Silent	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:1269281C>T	uc010nyk.2	+	5	1996	c.1996C>T	c.(1996-1998)Ctg>Ttg	p.L666L		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	666					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	AGAACTGCCTCTGAGCTGGGC	0.677000													9	36					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42912472	42912472	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:42912472G>A	uc002otr.3	-	2	1699	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	AK311181_uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.F219F	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	474					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	p.F474L(2)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGCAGGCGTGAACTGTGGAG	0.617000													25	82					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56397207	56397207	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:56397207C>G	uc003pcy.4	-	44	9282	c.9174G>C	c.(9172-9174)aaG>aaC	p.K3058N		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5470					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTTCAAAATCTTCACTTTAT	0.398000													4	27					0	0	1	0	0
C11orf51	25906	broad.mit.edu	37	11	71822277	71822277	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:71822277G>A	uc001orv.3	-	2	263	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	C11orf51_uc009ytc.1_Intron|C11orf51_uc001orw.3_Silent_p.L16L	NM_014042	NP_054761	P60006	CK051_HUMAN	Homo sapiens chromosome 11 open reading frame 51 (C11orf51), mRNA.	16						intracellular				endometrium(1)	1						TTAAACCACAGAGTCTCAGTC	0.512000													23	82					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457891	159457891	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:159457891G>C	uc003qrz.3	-	9	1496	c.1164C>G	c.(1162-1164)ctC>ctG	p.L388L	TAGAP_uc011eft.2_Silent_p.L325L|TAGAP_uc003qsa.3_Silent_p.L210L	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	388					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCCGGCTCTCGAGGCACTCCT	0.587000													13	46					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187443336	187443336	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:187443336G>C	uc003frp.3	-	7	2247	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.S541C|BCL6_uc010hza.2_Missense_Mutation_p.S495C|BCL6_uc003frq.2_Missense_Mutation_p.S597C	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	597					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTTCTCTCCAGAGTGAATTCG	0.572000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								19	66					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129034	152129034	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:152129034G>A	uc001ezs.1	-	2	606	c.541C>T	c.(541-543)Cac>Tac	p.H181Y		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	181	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGATTGTGGTGAGAATCTCTG	0.458000													77	307					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142510607	142510607	+	Missense_Mutation	SNP	C	C	G	rs150897330		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:142510607C>G	uc003qiw.3	+	4	471	c.456C>G	c.(454-456)atC>atG	p.I152M	VTA1_uc011edu.2_Missense_Mutation_p.I94M	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.	152	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CAACATACATCCATAATTGTT	0.343000													27	38					0	0	1	0	0
ELOVL1	64834	broad.mit.edu	37	1	43829727	43829727	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:43829727G>A	uc001cjb.3	-	7	828	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Missense_Mutation_p.H207Y	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA.	234					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGATGAGGTGAATAATGACT	0.478000													15	43					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151265367	151265367	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:151265367G>C	uc001exr.3	-	12	3087	c.2448C>G	c.(2446-2448)ctC>ctG	p.L816L	PI4KB_uc001exs.3_Silent_p.L789L|PI4KB_uc001exu.3_Silent_p.L789L|PI4KB_uc010pcw.2_Silent_p.L472L|PI4KB_uc001ext.3_Silent_p.L804L	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	804					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCCGTCATAGAGTTTGGTGG	0.587000													14	50					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49005818	49005818	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:49005818G>C	uc002pjk.3	-	7	753	c.753C>G	c.(751-753)ctC>ctG	p.L251L		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCTGGGCTCGGAGGTAACGCT	0.697000													5	22					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48155668	48155668	+	Silent	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr16:48155668C>T	uc002efc.1	-	10	2017	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.V557V	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	557	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTTTTCTCTCACATTTCCAT	0.433000													14	35					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67632194	67632194	+	Silent	SNP	T	T	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:67632194T>C	uc002sdz.1	+	4	2519	c.2380T>C	c.(2380-2382)Ttg>Ctg	p.L794L		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	794						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TAAGAAGAAATTGAGTACTAA	0.328000													20	33					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94942490	94942490	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:94942490C>T	uc001ydf.3	-	0	181	c.20G>A	c.(19-21)aGa>aAa	p.R7K	SERPINA9_uc001yde.3_Missense_Mutation_p.R7K|SERPINA9_uc010avc.3_5'UTR|SERPINA9_uc001ydg.3_Silent_p.E34E|SERPINA9_uc001ydh.1_Missense_Mutation_p.R7K|SERPINA9_uc001ydi.1_Silent_p.E34E	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	0					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		ggttcctcttctcctgccctg	0.532000													49	144					0	0	1	0	0
TMEM54	113452	broad.mit.edu	37	1	33363789	33363789	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:33363789G>C	uc001bwi.1	-	1	262	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	TMEM54_uc001bwj.1_Missense_Mutation_p.Q50E|TMEM54_uc001bwk.1_Missense_Mutation_p.Q50E	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	Homo sapiens transmembrane protein 54 (TMEM54), mRNA.	50						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCGCATCTTGAGGGGTGCCC	0.617000													19	47					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603725	111603725	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:111603725G>A	uc010hqa.3	+	1	1212	c.801G>A	c.(799-801)ctG>ctA	p.L267L	PHLDB2_uc003dyc.3_Silent_p.L294L|PHLDB2_uc003dyd.3_Silent_p.L267L|PHLDB2_uc003dyg.3_Silent_p.L267L|PHLDB2_uc003dyh.3_Silent_p.L267L|PHLDB2_uc003dye.4_Silent_p.L267L|PHLDB2_uc003dyf.4_Silent_p.L267L	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	267						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGAACCAGCTGACACCTCTCA	0.478000													18	37					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145555755	145555755	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:145555755C>T	uc001eob.1	+	1	211	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	ANKRD35_uc010oyx.1_5'UTR	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	35										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGTGGGACGCGTGGCTGC	0.602000													14	26					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158478911	158478911	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:158478911C>G	uc011kwe.1	-	7	935	c.790G>C	c.(790-792)Gaa>Caa	p.E264Q	NCAPG2_uc010lqu.1_Missense_Mutation_p.E56Q|NCAPG2_uc003wnx.1_Missense_Mutation_p.E264Q|NCAPG2_uc003wnv.1_Missense_Mutation_p.E264Q|NCAPG2_uc003wnw.1_Non-coding_Transcript	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	264					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAATAAATTTCTGCAATGTAT	0.254000													12	19					0	0	1	0	0
RHOQ	23433	broad.mit.edu	37	2	46803742	46803742	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:46803742G>C	uc002rva.3	+	3	728	c.409G>C	c.(409-411)Gat>Cat	p.D137H	BC048424_uc002rvb.3_Intron	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	137					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAGACTGAATGATATGAAAGA	0.318000													15	50					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138871491	138871491	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chrX:138871491C>G	uc004faz.3	-	12	1471	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.D458H	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	458					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V457G(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGCACCTTATCTACTTTGTCA	0.318000													8	32					0	0	1	0	0
C14orf79	122616	broad.mit.edu	37	14	105455319	105455319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:105455319C>T	uc001ypy.1	+	1	616	c.463C>T	c.(463-465)Caa>Taa	p.Q155*	C14orf79_uc010tym.1_Non-coding_Transcript|C14orf79_uc001ypz.1_Non-coding_Transcript	NM_174891	NP_777551	Q96F83	CN079_HUMAN	Homo sapiens chromosome 14 open reading frame 79 (C14orf79), mRNA.	155										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			GTGTGCTTTTCAAGAAATAAC	0.383000													29	49					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127926	152127926	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:152127926G>A	uc001ezs.1	-	2	1714	c.1649C>T	c.(1648-1650)aCa>aTa	p.T550I		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	550	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGTCTGTCTGTCTGACCATA	0.522000													37	702					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49724229	49724229	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:49724229G>T	uc011bcs.1	-	6	803	c.731C>A	c.(730-732)tCg>tAg	p.S244*	MST1_uc003cxg.3_Silent_p.L245L|MST1_uc010hkx.2_Silent_p.L166L|MST1_uc011bct.1_Silent_p.L245L|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank			P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	404	Kringle 2.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACCTTGGTCGAGGAACCTGG	0.622000													6	25					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116067643	116067643	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr10:116067643G>C	uc010qse.2	-	10	1453	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	AFAP1L2_uc001lbn.3_Silent_p.L331L|AFAP1L2_uc001lbo.3_Silent_p.L331L|AFAP1L2_uc001lbp.3_Silent_p.L359L|AFAP1L2_uc001lbr.1_Silent_p.L331L|AFAP1L2_uc010qsd.2_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	331	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGCTCAGTTTGAGGCCAGCAG	0.483000													7	43					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133936606	133936606	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr9:133936606G>C	uc004caa.1	+	12	2441	c.2343G>C	c.(2341-2343)caG>caC	p.Q781H		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	781	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCCGGGCCAGAGAGGTAAGT	0.687000													3	17					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	853445	853445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr4:853445G>A	uc003gbm.4	-	23	3431	c.3232C>T	c.(3232-3234)Cag>Tag	p.Q1078*	GAK_uc003gbn.4_Nonsense_Mutation_p.Q999*|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Nonsense_Mutation_p.Q931*	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1078					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCCGGGTTCTGAGACTTGGTC	0.612000													20	68					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904455	5904455	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr20:5904455G>A	uc002wmg.3	+	3	1971	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	CHGB_uc010zqz.2_Silent_p.L238L	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	555						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAAATGAGCTGACCTTGAACG	0.453000													20	55					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79804400	79804400	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr17:79804400C>G	uc002kbn.1	-	6	1158	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	321					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			ATCTCCTCCTCCAGGGTGATG	0.577000													20	59					0	0	1	0	0
CT62	196993	broad.mit.edu	37	15	71403760	71403760	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr15:71403760G>C	uc002ata.2	-	3	654	c.141C>G	c.(139-141)ctC>ctG	p.L47L		NM_001102658	NP_001096128	P0C5K7	CT62_HUMAN	Homo sapiens cancer/testis antigen 62 (CT62), mRNA.	47										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						CAGCATTCCAGAGTTCCTGGA	0.493000													6	11					0	0	1	0	0
POLD4	57804	broad.mit.edu	37	11	67120989	67120989	+	Splice_Site	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:67120989G>A	uc001okn.3	-	1		c.1_splice	c.e1-1		LOC100130987_uc010rpo.1_Intron|POLD4_uc001okm.3_5'UTR			Q9HCU8	DPOD4_HUMAN	Homo sapiens polymerase (DNA-directed), delta 4 (POLD4), mRNA.						DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			GCGGCGGGCAGACAAGATGAC	0.637000													3	3					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86205661	86205661	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr15:86205661G>C	uc002blu.1	+	11	4958	c.4788G>C	c.(4786-4788)ctG>ctC	p.L1596L	AKAP13_uc002blt.1_Intron|AKAP13_uc002blv.1_Intron|AKAP13_uc010bnf.1_Intron|AKAP13_uc002blw.1_Intron|AKAP13_uc010bne.1_Intron	NM_006738	NP_006729	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 1, mRNA.	1596					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTGCTGGCCTGAGTGCTGACT	0.478000													29	75					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	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				22	41					0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112701951	112701951	+	Silent	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr12:112701951C>T	uc021reb.1	-	16	2649	c.2253G>A	c.(2251-2253)ttG>ttA	p.L751L	C12orf51_uc010syk.1_Silent_p.L286L|C12orf51_uc001tts.2_Silent_p.L286L|C12orf51_uc001ttt.3_Silent_p.L286L	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CAGGTTTAATCAAAATAGTGT	0.408000													4	12					0	0	1	0	0
NDUFAF6	137682	broad.mit.edu	37	8	96044311	96044311	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr8:96044311G>A	uc003yhj.3	+	1	309	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	NDUFAF6_uc011lgs.2_Non-coding_Transcript|NDUFAF6_uc003yhi.3_Missense_Mutation_p.E44K|NDUFAF6_uc003yhk.3_Non-coding_Transcript	NM_152416	NP_689629	Q330K2	CH038_HUMAN	Homo sapiens chromosome 8 open reading frame 38 (C8orf38), nuclear gene encoding mitochondrial protein, mRNA.	96					biosynthetic process	mitochondrion	transferase activity										CTTTAATGTGGAACTGGCTCA	0.383000													17	44					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66264824	66264824	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:66264824G>C	uc001oig.1	+	15	1816	c.1754G>C	c.(1753-1755)gGa>gCa	p.G585A	DPP3_uc001oif.1_Missense_Mutation_p.G585A|DPP3_uc010rpe.1_Missense_Mutation_p.G574A|BBS1_uc001oih.1_5'UTR	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	585					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	p.G585E(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCTGGCGAGGGACTCGTTACC	0.622000													29	49					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81259151	81259151	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:81259151C>G	uc001xux.2	-	12	1684	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	505						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GATTGTTTCTCCAACGCTCGT	0.418000													19	97					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96503564	96503564	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr5:96503564G>A	uc003kmz.3	-	7	1114	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	RIOK2_uc003kna.3_Missense_Mutation_p.S335L	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.	335	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATCTGAAAATGAGAATTCAGA	0.418000													28	122					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533689	92533689	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:92533689G>A	uc001pdj.4	+	8	7527	c.7510G>A	c.(7510-7512)Gag>Aag	p.E2504K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2504	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATACGTAGCTGAGGTGAGAGA	0.493000										TCGA Ovarian(4;0.039)			11	31					0	0	1	0	0