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
CLCN6	1185	broad.mit.edu	37	1	11897130	11897130	+	Missense_Mutation	SNP	G	G	C	rs137976806		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:11897130G>C	uc001ate.4	+	18	2168	c.2055G>C	c.(2053-2055)gaG>gaC	p.E685D	CLCN6_uc010oat.2_Missense_Mutation_p.E401D|CLCN6_uc010oau.2_Missense_Mutation_p.E663D	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	685					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCAGCGAGCTACGGAACA	0.622												
CSMD2	114784	broad.mit.edu	37	1	34035009	34035009	+	Missense_Mutation	SNP	T	T	C	rs143469891	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:34035009T>C	uc001bxm.1	-	51	8273	c.8096A>G	c.(8095-8097)aAt>aGt	p.N2699S	CSMD2_uc001bxn.1_Missense_Mutation_p.N2701S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2701	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAGAGCCCATTGGCCATGCA	0.547												
ZC3H12A	80149	broad.mit.edu	37	1	37948728	37948728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:37948728G>A	uc001cbb.4	+	5	1466	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZC3H12A_uc001cbc.1_Missense_Mutation_p.G234D	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	439					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGACTCGGGCATTGGCTCC	0.662												
CACNA1E	777	broad.mit.edu	37	1	181700365	181700365	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:181700365C>A	uc009wxt.3	+	18	2490	c.2295C>A	c.(2293-2295)caC>caA	p.H765Q	CACNA1E_uc001gow.3_Missense_Mutation_p.H765Q|CACNA1E_uc009wxs.3_Intron|CACNA1E_uc001gox.1_5'Flank	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	765					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGCAGCCACCTGTATGTGT	0.522												
OR4C6	219432	broad.mit.edu	37	11	55433335	55433335	+	Silent	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr11:55433335G>A	uc010rik.2	+	0	693	c.693G>A	c.(691-693)cgG>cgA	p.R231R		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231R(2)|p.R231W(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTAAAGGGCGGCACAAAGCCC	0.507												
HELB	92797	broad.mit.edu	37	12	66725048	66725048	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr12:66725048G>T	uc001sti.2	+	11	2813	c.2785G>T	c.(2785-2787)Gag>Tag	p.E929*	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	929					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GATTGCAGAGGAGTCTCAGCT	0.532												
RB1	5925	broad.mit.edu	37	13	49039505	49039505	+	Splice_Site	SNP	G	G	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr13:49039505G>T	uc001vcb.3	+	23	2655	c.2489_splice	c.e23+1	p.R830_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	830	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAAGATCAAGGTGTGTGTTTT	0.358		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
C14orf37	145407	broad.mit.edu	37	14	58605421	58605421	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr14:58605421delT	uc010tro.2	-	2	968	c.770delA	c.(769-771)aatfs	p.N257fs	C14orf37_uc001xdc.3_Frame_Shift_Del_p.N219fs|C14orf37_uc001xdd.3_Frame_Shift_Del_p.N219fs|C14orf37_uc001xde.3_Frame_Shift_Del_p.N219fs	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	219						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGTCTTTGGATTGGTGGTTAG	0.448												
ZSCAN29	146050	broad.mit.edu	37	15	43658653	43658653	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr15:43658653G>A	uc001zrk.1	-	2	1024	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	ZSCAN29_uc001zrj.1_Missense_Mutation_p.R173W|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R292W|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.R292W	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	293					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCCAGGGTCCGGAGGAAGCCA	0.542												
FANCI	55215	broad.mit.edu	37	15	89859689	89859689	+	Nonstop_Mutation	SNP	A	A	C			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr15:89859689A>C	uc010bnp.1	+	37	4076	c.3986A>C	c.(3985-3987)tAa>tCa	p.*1329S	FANCI_uc002bnm.1_Nonstop_Mutation_p.*1269S|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Nonstop_Mutation_p.*1089S|FANCI_uc002bnq.1_Nonstop_Mutation_p.*742S|POLG_uc002bns.4_3'UTR|POLG_uc002bnr.4_3'UTR	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	0					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGGAAAAAATAAATGAAATGC	0.438								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
CHST5	23563	broad.mit.edu	37	16	75563927	75563927	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr16:75563927C>T	uc002fej.1	-	4	695	c.374G>A	c.(373-375)cGc>cAc	p.R125H	CHST5_uc002fei.3_Missense_Mutation_p.R119H|CHST5_uc021tlk.1_Missense_Mutation_p.R119H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	119					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AAAGATAGAGCGCATCAGGTC	0.617												
KARS	3735	broad.mit.edu	37	16	75670442	75670442	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr16:75670442C>G	uc002feq.3	-	3	440	c.392G>C	c.(391-393)aGg>aCg	p.R131T	KARS_uc002fer.3_Missense_Mutation_p.R159T|KARS_uc010cgz.3_5'UTR	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	131					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GGCATGGATCCTACCTAGAAA	0.408												
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr17:7578457C>T	uc002gim.2	-	4	667	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
CYP4F2	8529	broad.mit.edu	37	19	15989675	15989675	+	Missense_Mutation	SNP	C	C	T	rs143677430	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:15989675C>T	uc002nbs.1	-	12	1519	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	CYP4F2_uc010xot.1_Missense_Mutation_p.R341H	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	490					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGCAGGACGCGGAAGCGCAG	0.672												
RPSA	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.Q111E(12)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTTCACTAACCAGATCCAGGC	0.567												
ZNF578	147660	broad.mit.edu	37	19	53014344	53014344	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:53014344G>T	uc002pzp.4	+	5	954	c.710G>T	c.(709-711)gGc>gTc	p.G237V		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AATGAGACTGGCGAAGCCTTT	0.313												
LAIR1	3903	broad.mit.edu	37	19	54875933	54875933	+	Silent	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:54875933G>A	uc002qfk.1	-	1	349	c.39C>T	c.(37-39)ctC>ctT	p.L13L	LAIR1_uc002qfl.1_Silent_p.L13L|LAIR1_uc002qfm.1_Silent_p.L13L|LAIR1_uc002qfn.1_Silent_p.L13L|LAIR1_uc010yex.2_Silent_p.L7L|LAIR1_uc002qfo.3_Intron	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	13						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GGGCCAGGCAGAGCACTGGAA	0.617												
TTN	7273	broad.mit.edu	37	2	179458768	179458768	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr2:179458768C>T	uc021vsy.1	-	245	50873	c.50648G>A	c.(50647-50649)cGt>cAt	p.R16883H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10578H|TTN_uc021vta.1_Missense_Mutation_p.R10511H|TTN_uc021vtb.1_Missense_Mutation_p.R10386H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17810	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATCTGAACGTTTGGCCTT	0.418												
SF3B1	23451	broad.mit.edu	37	2	198267698	198267698	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr2:198267698C>T	uc002uue.3	-	12	1829	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	594				R -> L (in Ref. 1; AAC97189).	nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AATGATCTCTCGGCCTTCCAC	0.338			Mis		myelodysplastic syndrome							
PTPRA	5786	broad.mit.edu	37	20	3003414	3003414	+	Missense_Mutation	SNP	G	G	A	rs117251752	by1000genomes	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:3003414G>A	uc010zqd.2	+	14	1758	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M	PTPRA_uc002whj.3_Missense_Mutation_p.V470M|PTPRA_uc002whk.3_Missense_Mutation_p.V461M|PTPRA_uc002whl.3_Missense_Mutation_p.V461M|PTPRA_uc002whm.3_Missense_Mutation_p.V237M|PTPRA_uc002whn.3_Missense_Mutation_p.V461M|PTPRA_uc002who.3_Missense_Mutation_p.V133M	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	470	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAAGGTGGACGTGTATGGCTT	0.577												
KIF16B	55614	broad.mit.edu	37	20	16496298	16496298	+	Silent	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:16496298G>A	uc002wpg.2	-	3	402	c.243C>T	c.(241-243)acC>acT	p.T81T	KIF16B_uc010gch.2_Silent_p.T81T|KIF16B_uc010gci.2_Silent_p.T81T|KIF16B_uc010gcj.2_Silent_p.T81T	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	81	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGTGCCGAGGGTTTTGAAAA	0.373												
WFDC8	90199	broad.mit.edu	37	20	44181787	44181787	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:44181787T>C	uc002xow.3	-	4	653	c.574A>G	c.(574-576)Agg>Ggg	p.R192G	WFDC8_uc002xox.3_Missense_Mutation_p.R192G	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	192	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GTCCAGGCCCTGGCACAAACA	0.502												
TPTE	7179	broad.mit.edu	37	21	10951271	10951271	+	Silent	SNP	T	T	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr21:10951271T>A	uc002yip.1	-	9	809	c.441A>T	c.(439-441)gtA>gtT	p.V147V	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.V129V|TPTE_uc002yir.1_Silent_p.V109V|TPTE_uc010gkv.1_Silent_p.V9V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	147					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTACCTTTCTACAAATACTC	0.358												
PLCD1	5333	broad.mit.edu	37	3	38052749	38052749	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:38052749G>A	uc003chm.3	-	4	1163	c.809C>T	c.(808-810)gCg>gTg	p.A270V	PLCD1_uc003chn.3_Missense_Mutation_p.A249V	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	249					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GAGGGCCAGCGCAGGCCCTGC	0.687												
CX3CR1	1524	broad.mit.edu	37	3	39307436	39307436	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:39307436C>T	uc021wwc.1	-	1	701	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	CX3CR1_uc021wwa.1_Missense_Mutation_p.V189M|CX3CR1_uc021wwb.1_Missense_Mutation_p.V189M|CX3CR1_uc003cjl.3_Missense_Mutation_p.V189M|CX3CR1_uc021wwd.1_Missense_Mutation_p.V189M	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	189					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTGCGGAGCACGGGCCAGATT	0.483												
CLEC3B	7123	broad.mit.edu	37	3	45077251	45077251	+	Silent	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:45077251C>T	uc003cok.4	+	2	540	c.444C>T	c.(442-444)acC>acT	p.T148T		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	148	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGACATGACCGGCGCCCGCA	0.667												
ARMC8	25852	broad.mit.edu	37	3	137991889	137991889	+	Silent	SNP	A	A	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:137991889A>G	uc003esa.1	+	17	1885	c.1518A>G	c.(1516-1518)ttA>ttG	p.L506L	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.L489L|ARMC8_uc011bmg.1_Silent_p.L453L|ARMC8_uc011bmh.1_Silent_p.L447L|ARMC8_uc003esb.1_Silent_p.L478L|ARMC8_uc003esc.1_Silent_p.L278L|ARMC8_uc003esf.1_Silent_p.L89L	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	520							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TCCGGTTATTATCAGATTCAG	0.368												
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	A	G	rs12107841	by1000genomes	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587												
TEC	7006	broad.mit.edu	37	4	48140944	48140944	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr4:48140944C>T	uc003gxz.3	-	15	1722	c.1631G>A	c.(1630-1632)aGc>aAc	p.S544N		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	544	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATCTGATTTGCTGCTGAAGCG	0.438												
KIAA0922	23240	broad.mit.edu	37	4	154517485	154517485	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr4:154517485G>A	uc010ipp.3	+	19	2123	c.2071G>A	c.(2071-2073)Gta>Ata	p.V691I	KIAA0922_uc003inm.4_Missense_Mutation_p.V690I|KIAA0922_uc010ipq.3_Missense_Mutation_p.V459I	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	690						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAGGGTTGGCGTAGTTTTCAC	0.423												
KIAA0825	285600	broad.mit.edu	37	5	93856069	93856069	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr5:93856069T>G	uc011cuk.2	-	4	1111	c.854A>C	c.(853-855)gAa>gCa	p.E285A	KIAA0825_uc003kkp.2_Missense_Mutation_p.E285A	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN	Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.	285										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TGCCATTTCTTCTGTAACAGT	0.348												
CYP21A2	1589	broad.mit.edu	37	6	32006249	32006249	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr6:32006249G>A	uc003nze.2	+	0	157	c.50G>A	c.(49-51)cGc>cAc	p.R17H	CYP21A2_uc003nzf.2_Missense_Mutation_p.R17H	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	16					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GCTGGCGCCCGCCTGCTGTGG	0.677												
COL12A1	1303	broad.mit.edu	37	6	75797410	75797410	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr6:75797410G>A	uc021zbv.1	-	63	9099	c.9064C>T	c.(9064-9066)Ccc>Tcc	p.P3022S	COL12A1_uc021zbw.1_Missense_Mutation_p.P1858S|COL12A1_uc003phs.3_Missense_Mutation_p.P3022S|COL12A1_uc003pht.3_Missense_Mutation_p.P1858S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	3022	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.P3022T(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGCCAGGGGGACCTCTTGAA	0.522												
MEST	4232	broad.mit.edu	37	7	130139717	130139717	+	Silent	SNP	T	T	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr7:130139717T>A	uc003vqg.3	+	7	792	c.536_splice	c.e7-1	p.G179_splice	MEST_uc003vqc.3_Splice_Site_p.G170_splice|MEST_uc003vqd.3_Splice_Site_p.G170_splice|MEST_uc022alp.1_Splice_Site_p.G170_splice|MEST_uc003vqf.3_Splice_Site_p.G170_splice|MEST_uc011kph.2_Splice_Site_p.G165_splice	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	179					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CTTCTACAGGTATCTTTCCTG	0.413												
OR2F2	135948	broad.mit.edu	37	7	143632696	143632696	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr7:143632696T>G	uc011ktv.2	+	0	371	c.371T>G	c.(370-372)gTg>gGg	p.V124G		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H123Y(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GACCGCCATGTGGCTGTGTCT	0.562												
FBXO32	114907	broad.mit.edu	37	8	124518764	124518764	+	Silent	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr8:124518764C>T	uc003yqr.3	-	6	941	c.702G>A	c.(700-702)ctG>ctA	p.L234L	FBXO32_uc003yqp.2_Silent_p.L89L|FBXO32_uc010mdk.3_Silent_p.L141L	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA.	234	F-box.									autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCATGATGTTCAGTTGTAGGC	0.622												
TEK	7010	broad.mit.edu	37	9	27206739	27206739	+	Missense_Mutation	SNP	C	C	T	rs147231791	by1000genomes	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr9:27206739C>T	uc011lno.2	+	13	2837	c.2395C>T	c.(2395-2397)Cgc>Tgc	p.R799C	TEK_uc003zqi.4_Missense_Mutation_p.R842C|TEK_uc011lnp.2_Missense_Mutation_p.R694C|TEK_uc003zqj.1_Missense_Mutation_p.R776C	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	842					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTTAAGGCGCGCATCAAGAA	0.453												
FAM75D1	389763	broad.mit.edu	37	9	84607173	84607173	+	Silent	SNP	A	A	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr9:84607173A>G	uc004amn.3	+	3	1835	c.1788A>G	c.(1786-1788)ctA>ctG	p.L596L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	596						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CTAGTCCTCTATTCCTGATTA	0.512