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
CRNN	49860	broad.mit.edu	37	1	152382749	152382749	+	Missense_Mutation	SNP	G	G	A	rs3814301		TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:152382749G>A	uc001ezx.2	-	2	883	c.809C>T	c.(808-810)aCc>aTc	p.T270I		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	270	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTGGGTCTCAGTCCC	0.612000													9	519					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr22:22663086T>G	uc021wml.1	+	30		c.2444T>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGCCACATAAGTTGTCCT	0.299000													6	18					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19984249	19984249	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chrX:19984249G>A	uc004czp.3	-	1	560	c.560C>T	c.(559-561)tCa>tTa	p.S187L	CXorf23_uc011mjg.2_5'Flank|CXorf23_uc004czo.3_Missense_Mutation_p.S137L	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	187						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTTCTAGTTGACTGGGAGTA	0.408000													27	7					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106378213	106378213	+	Splice_Site	SNP	G	G	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr14:106378213G>C	uc021ser.1	-	3389		c.53681_splice	c.e3389+1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron					Parts of antibodies, mostly variable regions.																		CCAGGGAATAGAGAGGGTCCA	0.622000													11	11					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57094190	57094190	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:57094190C>T	uc001njt.3	-	15	2312	c.2045G>A	c.(2044-2046)aGg>aAg	p.R682K	TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	682	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GCTCCTCCTCCTCTTCTTTTT	0.542000													32	41					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74905217	74905217	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:74905217G>T	uc001dge.2	+	21	2292	c.2225G>T	c.(2224-2226)cGg>cTg	p.R742L	FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.R742L|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.R641L	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	641	Poly-Ser.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CAGTGCACTCGGTACACCATC	0.488000													3	57					0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192335057	192335057	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:192335057A>C	uc001gsh.3	+	4	436	c.262A>C	c.(262-264)Att>Ctt	p.I88L		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	88	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						ACAGATTAACATTGACTTCGG	0.303000													29	45					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135438836	135438836	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr10:135438836G>T	uc010qvg.2	-	3	657	c.604C>A	c.(604-606)Ctt>Att	p.L202I		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	202						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCACAGGTAAGTGGAGAATGG	0.552000													4	61					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114483922	114483922	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:114483922T>G	uc001eem.3	+	1	1078	c.917T>G	c.(916-918)cTc>cGc	p.L306R	HIPK1_uc001eel.3_Missense_Mutation_p.L306R|HIPK1_uc001een.3_Missense_Mutation_p.L306R	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	306	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGATGAAGCTCAAGAGTCTT	0.463000													10	66					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73235281	73235281	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr9:73235281C>T	uc004aid.3	-	15	2048	c.1804_splice	c.e15-1	p.D602_splice	TRPM3_uc004ahu.3_Splice_Site_p.D432_splice|TRPM3_uc004ahv.3_Splice_Site_p.D404_splice|TRPM3_uc004ahw.3_Splice_Site_p.D474_splice|TRPM3_uc004ahx.3_Splice_Site_p.D461_splice|TRPM3_uc004ahy.3_Splice_Site_p.D464_splice|TRPM3_uc004ahz.3_Splice_Site_p.D451_splice|TRPM3_uc004aia.3_Splice_Site_p.D449_splice|TRPM3_uc004aib.3_Splice_Site_p.D439_splice|TRPM3_uc004aic.3_Splice_Site_p.D602_splice	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	627						integral to membrane	calcium channel activity			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						GGAATATCATCCTGTAATTAC	0.443000													55	85					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26628173	26628173	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr8:26628173G>A	uc003xfc.1	-	1	1330	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Silent_p.F298F|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Silent_p.F298F|ADRA1A_uc003xfh.1_Silent_p.F298F	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	298					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGAAATCAGGGAAGAAAGACC	0.388000													16	25					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1570724	1570724	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:1570724G>A	uc002cmb.3	-	26	3901	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	IFT140_uc002clz.3_Missense_Mutation_p.S793F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1180										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGGTCCGAGGAGTCCTTGGC	0.612000													7	19					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934878	30934878	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:30934878A>G	uc002nsu.1	+	1	547	c.409A>G	c.(409-411)Aag>Gag	p.K137E	ZNF536_uc010edd.1_Missense_Mutation_p.K137E	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTCTGCGGCAAGCGCTTCCG	0.632000													10	48					0	0	1	0	0
C22orf23	84645	broad.mit.edu	37	22	38340508	38340508	+	Silent	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr22:38340508C>T	uc003auj.2	-	5	707	c.498G>A	c.(496-498)caG>caA	p.Q166Q	C22orf23_uc021wpl.1_Silent_p.Q145Q	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA.	166								p.I165I(1)		endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CTTTCCTCTCCTGGATTTCCT	0.537000													3	45					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62554330	62554330	+	Silent	SNP	A	A	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:62554330A>T	uc001nvc.3	+	10	1632	c.1431A>T	c.(1429-1431)gcA>gcT	p.A477A	TMEM179B_uc001nvd.4_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.	477					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGCCGGCGGCAGCCCCGGACT	0.736000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	9					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45968454	45968454	+	Silent	SNP	A	A	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr15:45968454A>G	uc001zvu.3	+	6	1003	c.810A>G	c.(808-810)aaA>aaG	p.K270K	SQRDL_uc001zvv.3_Silent_p.K270K	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	270							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GAGCCGATAAACAAGAGGCTG	0.483000													49	61					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35152284	35152284	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr15:35152284T>A	uc001ziv.3	-	33	4283	c.4102A>T	c.(4102-4104)Atg>Ttg	p.M1368L		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	1368						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TGCATGTACATGTTGTATACA	0.313000													21	36					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49797195	49797195	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:49797195G>A	uc002pmz.3	-	8	1741	c.1507C>T	c.(1507-1509)Ctg>Ttg	p.L503L	SLC6A16_uc002pna.3_Silent_p.L503L	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	503						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGCAACATCAGGAAGAAGATA	0.493000													33	54					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	88325	88325	+	Silent	SNP	G	G	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chrGL000219.1:88325G>T	uc022brb.1	-	2	319	c.6C>A	c.(4-6)gtC>gtA	p.V2V	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		AGGGTAAAAAGACCATTGTCG	0.413000													5	73					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13659706	13659706	+	Silent	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:13659706C>T	uc011avc.2	+	5	2242	c.1860C>T	c.(1858-1860)tgC>tgT	p.C620C	FBLN2_uc011auz.2_Silent_p.C646C|FBLN2_uc011avb.2_Silent_p.C620C|FBLN2_uc011ava.2_Silent_p.C620C	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	620	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCACCTTTGCATCAATACTG	0.627000													39	54					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129151	152129151	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:152129151C>T	uc001ezs.1	-	2	489	c.424G>A	c.(424-426)Gga>Aga	p.G142R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	142	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.G142*(2)		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						TGGGAATCTCCGTCTTGTCTC	0.522000													6	527					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311344	311344	+	RNA	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chrGL000192.1:311344C>T	uc010yij.1	-	6		c.1025G>A			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TACCTTGCTGCAATTAAGAGC	0.577000													3	34					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133045963	133045963	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:133045963T>C	uc011ecm.2	-	4	1103	c.211A>G	c.(211-213)Aag>Gag	p.K71E	VNN3_uc010kfs.3_Missense_Mutation_p.K37E|VNN3_uc011ecl.2_Non-coding_Transcript|VNN3_uc011ecn.2_Missense_Mutation_p.K71E|VNN3_uc010kfu.3_Missense_Mutation_p.K71E|VNN3_uc010kfv.3_Non-coding_Transcript|VNN3_uc010kfw.3_Missense_Mutation_p.K71E|VNN3_uc010kfx.3_Missense_Mutation_p.K37E|VNN3_uc010kfy.3_Missense_Mutation_p.K37E|VNN3_uc010kfz.3_Missense_Mutation_p.K37E					Homo sapiens vanin 3 (VNN3), transcript variant 3, non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		GAAAATGGCTTGACACTGCTG	0.478000													4	101					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573204	64573204	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr10:64573204G>A	uc010qio.2	-	2	1253	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	EGR2_uc010qim.2_Silent_p.F398F|EGR2_uc010qin.2_Silent_p.F348F|EGR2_uc001jmi.3_Silent_p.F398F|EGR2_uc009xph.3_Silent_p.F398F	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	398					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGTCACAGGCGAAGGGCTTCT	0.587000													4	131					0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54326364	54326364	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr5:54326364C>G	uc003jpl.1	+	2	359	c.315C>G	c.(313-315)ttC>ttG	p.F105L		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	105	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TTATACCATTCTCAAGAGTTA	0.388000													29	49					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216224	111216224	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:111216224A>C	uc001dzv.1	-	0	1432	c.1208T>G	c.(1207-1209)tTc>tGc	p.F403C		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	403						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.F403S(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGAGGAAGAAGATGAGCAA	0.582000													23	35					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618812	618812	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:618812G>A	uc001lql.3	-	12	2014	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.P583S|CDHR5_uc009ycd.3_Missense_Mutation_p.P577S|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Missense_Mutation_p.P417S	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	583	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATACTGGGGGGCATCGGCTGA	0.687000													4	152					0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12430640	12430640	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:12430640T>G	uc002mtp.3	-	3	437	c.199A>C	c.(199-201)Atg>Ctg	p.M67L	ZNF563_uc002mtq.2_Missense_Mutation_p.M67L	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTCTCTACCATATGACATCTG	0.308000													29	46					0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90260218	90260218	+	RNA	SNP	T	T	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr2:90260218T>A	uc010yts.2	+	40		c.5486T>A								Parts of antibodies, mostly variable regions.																		ATTTTGCAACTTATTACTGTC	0.498000													8	136					0	0	1	0	0
C3orf27	23434	broad.mit.edu	37	3	128292542	128292542	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:128292542G>A	uc021xdl.1	-	0	31	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	C3orf27_uc003ekq.3_Missense_Mutation_p.R11C	NM_007354	NP_031380	O15544	GR6_HUMAN	Homo sapiens chromosome 3 open reading frame 27 (C3orf27), mRNA.	11										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TCACTGCAGCGGACCACTATC	0.552000													15	27					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48295427	48295427	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:48295427G>T	uc002efi.1	+	4	905	c.816G>T	c.(814-816)atG>atT	p.M272I	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.M228I	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	272					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACATTGTCATGCTAGAGAAAA	0.338000													32	45					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114483936	114483936	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:114483936C>G	uc001eem.3	+	1	1092	c.931C>G	c.(931-933)Ctg>Gtg	p.L311V	HIPK1_uc001eel.3_Missense_Mutation_p.L311V|HIPK1_uc001een.3_Missense_Mutation_p.L311V	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	311	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.L311L(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTCTTGGTCTGATCCACGC	0.478000													11	69					0	0	1	0	0
MON1A	84315	broad.mit.edu	37	3	49947931	49947931	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:49947931G>A	uc003cxz.3	-	3	1417	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	MON1A_uc003cya.3_Missense_Mutation_p.R269C|MON1A_uc003cyb.2_Missense_Mutation_p.R269C	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA.	334							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCCTTTCGGCGCACGAGTGCC	0.657000													3	36					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733190	56733190	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:56733190G>A	uc002qmq.3	-	4	1411	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	ZSCAN5A_uc010ygi.2_Silent_p.D298D|ZSCAN5A_uc002qmr.3_Silent_p.D415D|ZSCAN5A_uc002qms.1_Silent_p.D414D	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	415					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGGCAGACGTCACACGTGT	0.498000													7	35					0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79536065	79536065	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr17:79536065G>A	uc002kau.3	-	13	1608	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	NPLOC4_uc002kat.4_Missense_Mutation_p.R476W|NPLOC4_uc010wur.1_Missense_Mutation_p.R315W|NPLOC4_uc010dic.3_5'Flank|NPLOC4_uc002kas.3_5'UTR	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	476					ER-associated protein catabolic process|Golgi organization|cellular membrane fusion	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AATACATCCCGGTTTTCAATA	0.358000													12	30					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6225029	6225029	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:6225029A>T	uc003mwv.3	-	6	986	c.863T>A	c.(862-864)gTc>gAc	p.V288D	F13A1_uc011dib.2_Missense_Mutation_p.V225D	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	288					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGATGGGGGGACGCCATAGGC	0.507000													41	49					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823900	70823900	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chrX:70823900G>A	uc004eae.2	+	7	1274	c.773G>A	c.(772-774)aGc>aAc	p.S258N	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	258	Asp/Ser-rich.					nucleus		p.S258N(4)|p.D257N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.557000													5	63					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	RNA	SNP	C	C	T	rs2262202		TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:16946437C>T	uc010ocf.2	-	2		c.461G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCCTTCCGCCGGGCCAGCAG	0.672000													4	19					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56078884	56078884	+	Silent	SNP	G	G	A	rs141486781		TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr12:56078884G>A	uc001shh.3	-	24	3604	c.3384C>T	c.(3382-3384)ccC>ccT	p.P1128P	ITGA7_uc001shg.3_Silent_p.P1124P|ITGA7_uc010sps.2_Silent_p.P1031P|ITGA7_uc001shf.3_3'UTR|ITGA7_uc009znw.3_Silent_p.P371P|ITGA7_uc009znx.3_Silent_p.P1005P	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	1168					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCCCAGCTCGGGATGCCCGT	0.687000													13	25					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54216177	54216177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:54216177C>T	uc003pcj.2	+	7	1254	c.1108C>T	c.(1108-1110)Caa>Taa	p.Q370*	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	370					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAAATCATGCAAAATGGACC	0.318000													7	20					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:29910693A>G	uc003nol.3	+	1	317	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Missense_Mutation_p.Q78R|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Silent_p.A121A|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity	p.Q78R(4)|p.Q78*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			6	25					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5853449	5853449	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr12:5853449T>A	uc001qnm.2	-	11	1285	c.1213A>T	c.(1213-1215)Atg>Ttg	p.M405L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	410						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGGGACACATGGTGAAGGCA	0.537000													21	36					0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35753475	35753475	+	Silent	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:35753475C>T	uc002nyl.3	+	4	1025	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	LSR_uc010xsr.2_Intron|LSR_uc002nym.3_Silent_p.L249L|LSR_uc002nyn.3_Intron|LSR_uc002nyo.3_Silent_p.L249L|LSR_uc002nyp.3_Silent_p.L231L	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	268					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGTGGTATGCCTGGCTGCCTT	0.622000													23	80					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150444612	150444612	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr5:150444612G>A	uc003lti.3	-	1	286	c.45C>T	c.(43-45)agC>agT	p.S15S	TNIP1_uc010jhq.2_5'Flank|TNIP1_uc010jho.2_5'Flank|TNIP1_uc010jhp.2_5'Flank|TNIP1_uc010jhl.3_5'Flank|TNIP1_uc010jhn.3_Silent_p.S15S|TNIP1_uc010jhm.3_Silent_p.S15S|TNIP1_uc010jhr.2_Silent_p.S15S|TNIP1_uc011dco.2_Silent_p.S15S|TNIP1_uc003ltg.3_Intron|TNIP1_uc003ltk.3_Silent_p.S15S|TNIP1_uc003ltj.3_Silent_p.S15S|TNIP1_uc021ygb.1_Silent_p.S15S|TNIP1_uc010jhs.2_Intron	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	15					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAGGGCACGCTGCCCCCAG	0.577000													3	50					0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57684397	57684397	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr17:57684397G>C	uc002ixn.2	+	17	2351	c.2204G>C	c.(2203-2205)gGa>gCa	p.G735A	DHX40_uc010woe.2_Missense_Mutation_p.G658A|DHX40_uc010wof.2_Missense_Mutation_p.G250A	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	735							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTTCAGATGGAATATCGAAA	0.358000													11	12					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr22:22663087A>G	uc021wml.1	+	30		c.2445A>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GCTGCCACATAAGTTGTCCTT	0.303000													6	17					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77934693	77934693	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:77934693G>C	uc001ozh.3	-	5	1434	c.1332C>G	c.(1330-1332)gaC>gaG	p.D444E	GAB2_uc001ozg.3_Missense_Mutation_p.D406E	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	444					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.D444Y(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AATTGGTGCTGTCCGATCGGC	0.488000													105	141					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130878077	130878077	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr2:130878077C>A	uc010fmh.2	-	2	412	c.12G>T	c.(10-12)gaG>gaT	p.E4D		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	4				E -> G (in Ref. 1; ABP57734).		cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGGAATCAACCTCAACCACCA	0.537000													6	80					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683098	100683098	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr7:100683098C>T	uc003uxp.1	+	2	8454	c.8401C>T	c.(8401-8403)Cca>Tca	p.P2801S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2801	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2801S(2)|p.M2800T(1)		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)					TACCAGCATGCCAACCTCAAC	0.502000													7	368					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184614173	184614173	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr4:184614173C>T	uc003ivx.3	+	19	2312	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	TRAPPC11_uc003ivw.3_Nonsense_Mutation_p.Q704*|TRAPPC11_uc010isc.3_Nonsense_Mutation_p.Q48*|TRAPPC11_uc003ivy.3_Nonsense_Mutation_p.Q310*	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	704																	TTTAAATTGGCAGGGAGGAGG	0.453000													34	54					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4523867	4523867	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:4523867G>A	uc002mas.3	-	7	1118	c.1065C>T	c.(1063-1065)caC>caT	p.H355H		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	355						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCACGCAGGCGTGCGCGTGGG	0.741000													11	17					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2824233	2824233	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr8:2824233C>T	uc022aqr.1	-	57	9349	c.8959G>A	c.(8959-8961)Gga>Aga	p.G2987R	CSMD1_uc011kwj.2_Missense_Mutation_p.G2317R|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2988	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAATCATTCCGTTGGTGGGT	0.527000													7	8					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37512505	37512505	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:37512505G>A	uc003chd.3	+	1	246	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	ITGA9_uc003chc.3_Missense_Mutation_p.V65M	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	65					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAGGGTCCTTGTGGGCGCACC	0.522000													13	34					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142141706	142141706	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:142141706A>T	uc003eus.3	-	6	836	c.769T>A	c.(769-771)Tat>Aat	p.Y257N	XRN1_uc003eut.3_Missense_Mutation_p.Y257N|XRN1_uc003euu.3_Missense_Mutation_p.Y257N|XRN1_uc003euv.1_Missense_Mutation_p.Y118N|XRN1_uc003euw.3_Missense_Mutation_p.Y257N|XRN1_uc011bnh.2_Missense_Mutation_p.Y47N	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	257					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGTCAATATACTCTCTCATT	0.328000													18	52					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45495926	45495926	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:45495926G>A	uc002pai.3	+	13	1835	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	CLPTM1_uc010xxf.2_Missense_Mutation_p.R492Q|CLPTM1_uc010xxg.2_Missense_Mutation_p.R580Q|CLPTM1_uc021uvo.1_Silent_p.P91P	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	594					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GACCCCACCCGAGTCAACGAG	0.647000													4	119					0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45233391	45233391	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr2:45233391G>A	uc002ruo.3	-	1	1087	c.794C>T	c.(793-795)gCg>gTg	p.A265V		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	265						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGTGGGTCCGCTCCACCTCC	0.687000													12	81					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44099419	44099419	+	Silent	SNP	G	G	A			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:44099419G>A	uc002oww.2	-	0	190	c.72C>T	c.(70-72)atC>atT	p.I24I	IRGQ_uc010eiv.2_Silent_p.I24I|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	24							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				ACAGCGCTGCGATCAGCGCGG	0.672000													18	47					0	0	1	0	0
KLHDC9	126823	broad.mit.edu	37	1	161068706	161068706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:161068706delC	uc001fxr.3	+	0	526	c.381delC	c.(379-381)tgcfs	p.C127fs	KLHDC9_uc001fxq.3_5'UTR|KLHDC9_uc021pbt.1_5'UTR|KLHDC9_uc021pbu.1_Frame_Shift_Del_p.C127fs|KLHDC9_uc001fxs.3_Frame_Shift_Del_p.C127fs	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	Homo sapiens kelch domain containing 9 (KLHDC9), transcript variant 1, mRNA.	127										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGGTGACTGCCCCCCCGCCG	0.687													2	4	---	---	---	---					
RBKS	64080	broad.mit.edu	37	2	28004505	28004506	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr2:28004505_28004506insT	uc002rlo.1	-	7	956_957	c.945_946insA	c.(943-948)aaagacfs	p.K315fs	RBKS_uc010ezi.1_Frame_Shift_Ins_p.K248fs	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	Homo sapiens ribokinase (RBKS), mRNA.	315					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCGGAAGGTCTTTTTTGTAAG	0.421													38	67	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:137880741_137880743delTCG	uc003erv.3	-	7	1777_1779	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_uc003eru.3_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.3_In_Frame_Del_p.309_310DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	541						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													7	135	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72830880	72830881	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:72830880_72830881insCT	uc002fck.3	-	8	6373_6374	c.5700_5701insAG	c.(5698-5703)gagggcfs	p.E1900fs	ZFHX3_uc002fcl.3_Frame_Shift_Ins_p.E986fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1900					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCGGTGTTGCCCTCTCCCCCCT	0.545													16	32	---	---	---	---					
