Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PRKRIR	5612	broad.mit.edu	37	11	76063689	76063689	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr11:76063689G>C	uc001oxh.1	-	4	505	c.505C>G	c.(505-507)Cta>Gta	p.L169V	PRKRIR_uc021qnn.1_5'UTR|PRKRIR_uc010rrz.1_5'UTR	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	169					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ATTTCAAATAGAGATTTTAGG	0.413000														7			16		0	0	0.000308642	0	0
ZNF30	90075	broad.mit.edu	37	19	35434184	35434184	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:35434184G>A	uc010edq.1	+	4	695	c.317G>A	c.(316-318)tGt>tAt	p.C106Y	ZNF30_uc002nxf.2_Missense_Mutation_p.C24Y|ZNF30_uc010edp.1_Missense_Mutation_p.C105Y|ZNF30_uc010edr.1_Missense_Mutation_p.C106Y	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TCTGAAAACTGTCCATCTTTT	0.343000														20			20		0	0	0.000958276	0	0
CSMD2	114784	broad.mit.edu	37	1	34180229	34180229	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr1:34180229C>T	uc001bxm.1	-	20	3541	c.3364G>A	c.(3364-3366)Ggc>Agc	p.G1122S	CSMD2_uc001bxn.1_Missense_Mutation_p.G1082S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1082	CUB 7.					integral to membrane|plasma membrane	protein binding	p.H1122Y(1)|p.N1121N(1)		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)				CGCCGTCTGCCCCCCAGGCAC	0.607000														27			56		0	0	0.000781405	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95191935	95191935	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr4:95191935A>G	uc003htb.4	+	10	1715	c.1538A>G	c.(1537-1539)aAa>aGa	p.K513R	SMARCAD1_uc003htc.4_Missense_Mutation_p.K513R|SMARCAD1_uc003htd.4_Missense_Mutation_p.K513R|SMARCAD1_uc010ila.3_Missense_Mutation_p.K376R|SMARCAD1_uc011cdw.2_Missense_Mutation_p.K83R	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	513	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTGGTACATAAACATGGACTT	0.343000														59			36		0	0	0.00148497	0	0
ENSA	2029	broad.mit.edu	37	1	150601936	150601936	+	Missense_Mutation	SNP	T	G	G	rs148754482	byFrequency	TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr1:150601936T>G	uc009wly.3	-	0	163	c.11A>C	c.(10-12)aAa>aCa	p.K4T	ENSA_uc001evd.3_Missense_Mutation_p.K4T|ENSA_uc001eve.3_Missense_Mutation_p.K4T|ENSA_uc001evg.3_Missense_Mutation_p.K4T|ENSA_uc001evh.3_Missense_Mutation_p.K4T|ENSA_uc009wlz.1_Missense_Mutation_p.K4T|ENSA_uc001evi.3_Missense_Mutation_p.K4T	NM_207043	NP_997051	O43768	ENSA_HUMAN	Homo sapiens endosulfine alpha (ENSA), transcript variant 2, mRNA.	4					G2/M transition of mitotic cell cycle|cell division|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTTCTTGTTTCTGGGACAT	0.662000														30			23		0	0	0.000409698	0	0
EP400	57634	broad.mit.edu	37	12	132472274	132472274	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr12:132472274G>C	uc001ujn.3	+	6	2400	c.2248G>C	c.(2248-2250)Gcg>Ccg	p.A750P	EP400_uc021rgq.1_Missense_Mutation_p.A749P|EP400_uc001ujm.3_Missense_Mutation_p.A750P|EP400_uc001ujj.2_Missense_Mutation_p.A713P|EP400_uc001ujk.3_Missense_Mutation_p.A786P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	786					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCAGCGCATTGCGGAGCTGAG	0.577000														26			10		0	0	0.000978159	0	0
EXOC4	60412	broad.mit.edu	37	7	133692515	133692515	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:133692515A>G	uc003vrk.3	+	16	2649	c.2614A>G	c.(2614-2616)Agg>Ggg	p.R872G	EXOC4_uc011kpo.2_Missense_Mutation_p.R771G|EXOC4_uc003vrl.3_Missense_Mutation_p.R482G|EXOC4_uc011kpp.2_Missense_Mutation_p.R404G|EXOC4_uc011kpq.2_Missense_Mutation_p.R160G	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	872					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GAAAATGTGTAGGAACATTTT	0.502000														45			29		0	0	0.00178596	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098800	178098800	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:178098800T>C	uc002ulh.4	-	1	800	c.245A>G	c.(244-246)gAa>gGa	p.E82G	NFE2L2_uc002ulg.4_Missense_Mutation_p.E66G|NFE2L2_uc010zfa.2_Missense_Mutation_p.E66G|NFE2L2_uc002uli.4_Missense_Mutation_p.E66G|NFE2L2_uc010fra.3_Missense_Mutation_p.E66G|NFE2L2_uc010frb.3_Missense_Mutation_p.E66G	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	82					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E82D(8)|p.E82Q(6)|p.E82G(6)|p.G81D(5)|p.G81V(4)|p.G81S(2)|p.E82V(2)|p.G81_F83delGEF(2)|p.G81C(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TGGGAGAAATTCACCTGTCTC	0.433000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)				49			36		0	0	0.000953801	0	0
SLK	9748	broad.mit.edu	37	10	105750528	105750528	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr10:105750528A>G	uc001kxo.1	+	1	280	c.246A>G	c.(244-246)atA>atG	p.I82M	SLK_uc001kxp.1_Missense_Mutation_p.I82M	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	82	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGATTGACATATTAGCATCTT	0.363000														34			24		0	0	0.000720815	0	0
AFAP1	60312	broad.mit.edu	37	4	7857226	7857226	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr4:7857226T>G	uc011bwk.1	-	3	574	c.301A>C	c.(301-303)Agc>Cgc	p.S101R	AFAP1_uc003gkg.1_Missense_Mutation_p.S101R	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	101	Pro-rich.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTTCCGGGGCTCAGCGGCACA	0.562000														28			21		0	0	0.000375601	0	0
FAM71D	161142	broad.mit.edu	37	14	67688507	67688507	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr14:67688507C>A	uc001xja.2	+	6	1462	c.1172C>A	c.(1171-1173)aCt>aAt	p.T391N	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	391										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		AGCTTGAGAACTGAATCAAAC	0.353000														34			7		0.000442599	0.0094405	0.000442599	1	0
SIRT7	51547	broad.mit.edu	37	17	79870325	79870325	+	Silent	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:79870325G>A	uc002kcj.2	-	9	1221	c.1170C>T	c.(1168-1170)tgC>tgT	p.C390C	PCYT2_uc010wvb.2_5'Flank|PCYT2_uc002kce.2_5'Flank|PCYT2_uc002kch.2_5'Flank|PCYT2_uc002kci.2_5'Flank|PCYT2_uc002kcf.2_5'Flank|PCYT2_uc010wvc.2_5'Flank	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	Homo sapiens sirtuin 7 (SIRT7), mRNA.	390					chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGCGTTTTGTGCAGCCCCTGC	0.597000														93			84		0	0	0.000781405	0	0
ZNF708	7562	broad.mit.edu	37	19	21493348	21493348	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:21493348A>G	uc002npq.1	-	1	283	c.85T>C	c.(85-87)Tat>Cat	p.Y29H	ZNF708_uc002npr.1_Intron|ZNF708_uc010ecs.1_Intron	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ACATTCCTATATAAATTCTGC	0.333000														42			38		0	0	0.00148497	0	0
FMO2	2327	broad.mit.edu	37	1	171174553	171174553	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr1:171174553C>A	uc001ghk.1	+	6	1080	c.963C>A	c.(961-963)aaC>aaA	p.N321K	FMO2_uc010pmd.1_Missense_Mutation_p.N101K	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	321					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGAGGAGAACATTGATGTCA	0.398000														35			14		7.93312e-07	1.73013e-05	0.000219431	1	0
CLASP1	23332	broad.mit.edu	37	2	122122716	122122716	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:122122716A>C	uc002tnc.3	-	34	4418	c.4028T>G	c.(4027-4029)tTc>tGc	p.F1343C	CLASP1_uc010yyv.2_Missense_Mutation_p.F390C|CLASP1_uc002tmz.3_Missense_Mutation_p.F429C|CLASP1_uc002tna.3_Missense_Mutation_p.F390C|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.F1284C|CLASP1_uc010yza.2_Missense_Mutation_p.F1276C|CLASP1_uc021vnl.1_Missense_Mutation_p.F1282C|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tmy.3_Missense_Mutation_p.F180C|CLASP1_uc002tnf.3_Missense_Mutation_p.F246C	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	1344	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AATGGTCTTGAAGTGCTCCTC	0.557000														14			17		0	0	0.00074312	0	0
RGS3	5998	broad.mit.edu	37	9	116269730	116269730	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr9:116269730C>T	uc004bhq.3	+	13	1458	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	RGS3_uc004bhr.3_Missense_Mutation_p.R305W|RGS3_uc004bhs.3_Missense_Mutation_p.R307W|RGS3_uc004bht.3_Missense_Mutation_p.R136W|RGS3_uc010muy.3_Missense_Mutation_p.R136W|RGS3_uc004bhu.3_Missense_Mutation_p.R43W	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	417					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTCCAGGCACGGCCTGAGCA	0.672000														24			17		0	0	0.000566183	0	0
KBTBD7	84078	broad.mit.edu	37	13	41766948	41766948	+	Silent	SNP	A	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr13:41766948A>T	uc001uxw.1	-	0	1755	c.1446T>A	c.(1444-1446)gtT>gtA	p.V482V	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	482							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GATAGTTCTGAACCACTATGA	0.433000														22			21		0	0	0.00152264	0	0
DNAH9	1770	broad.mit.edu	37	17	11593357	11593357	+	Silent	SNP	G	A	A	rs140079277	byFrequency	TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:11593357G>A	uc002gne.3	+	19	4286	c.4218G>A	c.(4216-4218)gcG>gcA	p.A1406A	DNAH9_uc010coo.3_Silent_p.A700A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1406	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A1406S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACCCTAGCGCACCTGCTGC	0.577000														21			7		0	0	0.000274275	0	0
PLCG2	5336	broad.mit.edu	37	16	81922847	81922847	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr16:81922847A>T	uc002fgt.3	+	9	1014	c.836A>T	c.(835-837)gAa>gTa	p.E279V	PLCG2_uc010chg.1_Missense_Mutation_p.E279V	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	279					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACCATGCGTGAAACTGCTGAG	0.463000														19			9		0	0	0.000442599	0	0
DPF3	8110	broad.mit.edu	37	14	73238479	73238479	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr14:73238479T>G	uc001xnc.2	-	1	168	c.155A>C	c.(154-156)aAc>aCc	p.N52T	DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.N52T|DPF3_uc010ttq.1_Missense_Mutation_p.N62T	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	52					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GATGTAGCAGTTGTTCTGGGC	0.622000														38			29		0	0	0.000409698	0	0
THSD4	79875	broad.mit.edu	37	15	72063439	72063439	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:72063439G>C	uc002atb.1	+	15	2885	c.2806G>C	c.(2806-2808)Gaa>Caa	p.E936Q	THSD4_uc002ate.2_Missense_Mutation_p.E576Q|THSD4_uc002atg.1_Missense_Mutation_p.E139Q	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	936	TSP type-1 6.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGGGTCCGGGAAGTGCGGTG	0.507000														67			51		0	0	0.000781405	0	0
ZNF609	23060	broad.mit.edu	37	15	64966235	64966235	+	Silent	SNP	G	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:64966235G>T	uc002ann.3	+	3	1182	c.1182G>T	c.(1180-1182)ggG>ggT	p.G394G		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	394						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAGCAAAGGGACCAGTAACA	0.577000														78			44		4.10826e-27	9.27225e-26	0.000781405	1	0
PLAC4	191585	broad.mit.edu	37	21	42551311	42551311	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr21:42551311A>G	uc002yyz.3	-	0	5856	c.245T>C	c.(244-246)aTa>aCa	p.I82T	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	82													Prostate(19;2.29e-06)				gagtgagggtatccagggtga	0.602000														4			2		0	0	6.4e-05	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														19			4		0	0	0.00024832	0	0
GTF3C3	9330	broad.mit.edu	37	2	197629315	197629315	+	Missense_Mutation	SNP	G	A	A	rs143599816	byFrequency	TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:197629315G>A	uc002uts.3	-	17	2790	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	GTF3C3_uc010zgu.2_Missense_Mutation_p.T849M	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	878						transcription factor TFIIIC complex	DNA binding|protein binding	p.Q877E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATACAAAAGCGTTTGAGCCAT	0.448000														35			38		0	0	0.00111076	0	0
DOCK9	23348	broad.mit.edu	37	13	99540613	99540613	+	Splice_Site	SNP	C	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr13:99540613C>T	uc001vnt.2	-	17	2035	c.1980_splice	c.e17+1	p.K660_splice	DOCK9_uc001vnw.2_Splice_Site_p.K659_splice|DOCK9_uc021rlw.1_Splice_Site_p.K659_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.K660_splice|DOCK9_uc010tis.1_Splice_Site_p.K659_splice|DOCK9_uc010tit.1_Splice_Site_p.K660_splice|DOCK9_uc010afu.1_Splice_Site_p.K475_splice	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	660	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCACACTCACCTTGGCAAAA	0.398000														168			19		0	0	0.00121646	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364264	142364264	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:142364264T>C	uc003vzx.3	+	0	65	c.31T>C	c.(31-33)Ttt>Ctt	p.F11L	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_5'Flank|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTGGGGCCTTTTATCTCCT	0.488000														33			3		0	0	6.4e-05	0	0
KIAA1549	57670	broad.mit.edu	37	7	138595898	138595898	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:138595898G>T	uc011kql.2	-	3	3188	c.3139C>A	c.(3139-3141)Caa>Aaa	p.Q1047K	KIAA1549_uc011kqj.2_Missense_Mutation_p.Q1047K	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1047						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCACCTGTTTGAACTTGGAAC	0.328000			O	BRAF	pilocytic astrocytoma									16			7		0.000274275	0.0059152	0.000274275	1	0
BCAM	4059	broad.mit.edu	37	19	45322619	45322619	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:45322619C>T	uc002ozu.3	+	11	1534	c.1490C>T	c.(1489-1491)cCc>cTc	p.P497L	BCAM_uc002ozt.1_Missense_Mutation_p.P497L	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	497	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAGCCAATCCCCGGACGGCAG	0.662000														20			17		0	0	0.000958276	0	0
OCA2	4948	broad.mit.edu	37	15	28090200	28090200	+	Splice_Site	SNP	T	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:28090200T>A	uc001zbh.4	-	23	2449	c.2339_splice	c.e23-1	p.G780_splice	OCA2_uc010ayv.3_Splice_Site_p.G756_splice	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	780					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TCCCGTTACCTAAAGTCAAAA	0.413000									Oculocutaneous Albinism					34			20		0	0	0.000958276	0	0
OR2F1	26211	broad.mit.edu	37	7	143657509	143657509	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:143657509G>T	uc003wds.1	+	0	490	c.446G>T	c.(445-447)tGg>tTg	p.W149L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATCACATCCTGGGTCAGTGGC	0.527000														47			79		9.35349e-44	2.1359e-42	0.000781405	1	0
CHCHD3	54927	broad.mit.edu	37	7	132754922	132754922	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:132754922G>A	uc022alw.1	-	1	280	c.149C>T	c.(148-150)tCt>tTt	p.S50F	CHCHD3_uc003vre.3_Missense_Mutation_p.S50F|CHCHD3_uc010lmi.3_Non-coding_Transcript|CHCHD3_uc011kpn.1_Missense_Mutation_p.S50F	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 3 (CHCHD3), mRNA.	50					inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						ATAAGCACCAGAATACCGCTG	0.353000														48			12		0	0	0.000308642	0	0
POLK	51426	broad.mit.edu	37	5	74872636	74872636	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr5:74872636A>C	uc003kdw.3	+	5	668	c.572A>C	c.(571-573)aAt>aCt	p.N191T	POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc003kea.3_Missense_Mutation_p.N191T|POLK_uc003keb.3_Missense_Mutation_p.N191T|POLK_uc010izq.3_Missense_Mutation_p.N191T|POLK_uc003kec.3_Missense_Mutation_p.N101T|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_Missense_Mutation_p.N101T|POLK_uc003kee.3_Missense_Mutation_p.N191T	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	191	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TATGATCCCAATTTTATGGCC	0.328000								DNA polymerases (catalytic subunits)						27			20		0	0	0.00188189	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413807	61413807	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr10:61413807A>G	uc010qig.1	-	4	1426	c.977T>C	c.(976-978)cTt>cCt	p.L326P		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	326					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						ATCTTCCATAAGTAATGAAGG	0.363000														39			26		0	0	0.000878237	0	0
MGAM	8972	broad.mit.edu	37	7	141750617	141750617	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:141750617G>T	uc003vwy.3	+	23	2812	c.2758G>T	c.(2758-2760)Gtc>Ttc	p.V920F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	920					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACACAATGGTGTCCCAAGTCA	0.388000														119			33		1.22384e-17	2.69939e-16	0.000491102	1	0
MON2	23041	broad.mit.edu	37	12	62959064	62959064	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr12:62959064A>G	uc001sre.3	+	26	4471	c.4080A>G	c.(4078-4080)atA>atG	p.I1360M	MON2_uc010ssn.2_Missense_Mutation_p.I1360M|MON2_uc009zqj.3_Missense_Mutation_p.I1360M|MON2_uc010ssl.2_Missense_Mutation_p.I1288M|MON2_uc010ssm.2_Missense_Mutation_p.I1337M|MON2_uc001srf.3_Missense_Mutation_p.I1123M|MON2_uc001srg.3_Missense_Mutation_p.I235M	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1361					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATCCAGCTATATTTGACCAGT	0.348000														90			73		0	0	0.000781405	0	0
PDLIM1	9124	broad.mit.edu	37	10	96998413	96998413	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr10:96998413T>G	uc001kkh.3	-	5	824	c.715A>C	c.(715-717)Agt>Cgt	p.S239R		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	239					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTTTAACACTTCTGAATCCT	0.468000														37			21		0	0	0.00152264	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100871170	100871170	+	Silent	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:100871170G>A	uc002bvv.1	-	2	619	c.540C>T	c.(538-540)atC>atT	p.I180I	ADAMTS17_uc002bvx.1_5'UTR	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	180					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ATTTGCGCCTGATCAGATGTT	0.582000														34			42		0	0	0.00195071	0	0
ATP2C1	27032	broad.mit.edu	37	3	130673864	130673864	+	Silent	SNP	C	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr3:130673864C>T	uc011bli.2	+	8	1094	c.798C>T	c.(796-798)gtC>gtT	p.V266V	ATP2C1_uc011blg.2_Silent_p.V266V|ATP2C1_uc011blh.2_Silent_p.V227V|ATP2C1_uc003enk.3_Silent_p.V216V|ATP2C1_uc003enl.3_Silent_p.V232V|ATP2C1_uc003enm.3_Silent_p.V232V|ATP2C1_uc003enn.3_Silent_p.V216V|ATP2C1_uc003eno.3_Silent_p.V232V|ATP2C1_uc003enp.3_Silent_p.V232V|ATP2C1_uc003ent.3_Silent_p.V232V|ATP2C1_uc003ens.3_Silent_p.V232V	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	232					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AGGGTGTTGTCATTGGAACAG	0.343000									Hailey-Hailey disease					30			13		0	0	0.000308642	0	0
BMP7	655	broad.mit.edu	37	20	55777539	55777539	+	Missense_Mutation	SNP	G	A	A	rs112344257		TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr20:55777539G>A	uc010gip.1	-	2	1281	c.752C>T	c.(751-753)aCg>aTg	p.T251M	BMP7_uc002xyc.3_Missense_Mutation_p.T251M	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	251					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ACCATCCAGCGTCTCCACCGA	0.612000														5			16		0	0	0.000308642	0	0
MLL2	8085	broad.mit.edu	37	12	49436618	49436618	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr12:49436618C>G	uc001rta.4	-	25	5688	c.5688G>C	c.(5686-5688)aaG>aaC	p.K1896N		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1896					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Q1896*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCAGAACATCCTTGAAGAGCT	0.537000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				51			3		0	0	6.4e-05	0	0
CLIP2	7461	broad.mit.edu	37	7	73752800	73752800	+	Silent	SNP	A	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:73752800A>T	uc003uam.3	+	2	471	c.144A>T	c.(142-144)tcA>tcT	p.S48S	CLIP2_uc003uan.3_Silent_p.S48S	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	48						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACAAACAGTCATCTGGACCCT	0.657000														8			12		0	0	0.000308642	0	0
PDZRN3	23024	broad.mit.edu	37	3	73440201	73440201	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr3:73440201C>T	uc003dpl.1	-	5	1417	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	PDZRN3_uc011bgh.1_Missense_Mutation_p.D98N|PDZRN3_uc010hoe.1_Missense_Mutation_p.D139N|PDZRN3_uc011bgf.1_Missense_Mutation_p.D158N|PDZRN3_uc011bgg.1_Missense_Mutation_p.D161N	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	441	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCGTCTTCATCGTCCGTCCGG	0.438000														297			12		0	0	0.000219431	0	0
MAML1	9794	broad.mit.edu	37	5	179192887	179192887	+	Silent	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr5:179192887G>A	uc003mkm.3	+	1	1139	c.876G>A	c.(874-876)ttG>ttA	p.L292L	MAML1_uc003mkn.1_Silent_p.L292L	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	292					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACCCCCTTGGCACAGGACA	0.527000														66			53		0	0	0.000781405	0	0
LZTS1	11178	broad.mit.edu	37	8	20107305	20107305	+	Silent	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr8:20107305G>A	uc003wzr.3	-	2	1830	c.1719C>T	c.(1717-1719)gcC>gcT	p.A573A	LZTS1_uc010ltg.2_Silent_p.A514A	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	573					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGGGCTCCCCGGCGCTGTCCC	0.632000														55			48		0	0	0.000781405	0	0
P2RX5	5026	broad.mit.edu	37	17	3583061	3583061	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:3583061G>A	uc002fwi.3	-	10	1481	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.S301F|P2RX5_uc002fwk.3_Missense_Mutation_p.S360F|P2RX5_uc002fwj.3_Missense_Mutation_p.S336F|P2RX5_uc002fwl.3_Missense_Mutation_p.S337F	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	361					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGCCTCCTGGGAACTGTCTTC	0.647000														20			8		0	0	0.000442599	0	0
RNF213	57674	broad.mit.edu	37	17	78293016	78293016	+	Silent	SNP	C	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:78293016C>G	uc002jyh.2	+	17	3218	c.3075C>G	c.(3073-3075)gcC>gcG	p.A1025A	RNF213_uc002jyf.3_Silent_p.A976A|RNF213_uc021uen.1_Silent_p.A976A|RNF213_uc002jyg.1_Silent_p.A707A	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	976										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGATCACTGCCTACTGCAATA	0.522000														110			60		0	0	0.000781405	0	0
PRRC2A	7916	broad.mit.edu	37	6	31595867	31595867	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr6:31595867C>T	uc003nvb.4	+	11	1865	c.1616C>T	c.(1615-1617)gCc>gTc	p.A539V	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.A539V	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	539	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCAGCATCAGCCCCAACACCA	0.627000														71			44		0	0	0.000781405	0	0
HEATR5B	54497	broad.mit.edu	37	2	37235951	37235951	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:37235951G>A	uc002rpp.1	-	27	4421	c.4325C>T	c.(4324-4326)tCa>tTa	p.S1442L	HEATR5B_uc010ezy.1_Missense_Mutation_p.S26L|HEATR5B_uc002rpq.4_Missense_Mutation_p.S26L	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1442							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTTTGGTTTTGACTCTGCTTC	0.323000														89			64		0	0	0.000781405	0	0
EPS15L1	58513	broad.mit.edu	37	19	16503124	16503124	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:16503124T>A	uc002ndx.3	-	18	2100	c.2094A>T	c.(2092-2094)ttA>ttT	p.L698F	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.L588F|EPS15L1_uc002ndz.1_Missense_Mutation_p.L698F|EPS15L1_uc010xpf.1_Missense_Mutation_p.L601F|EPS15L1_uc002nea.1_Missense_Mutation_p.L698F|EPS15L1_uc010eah.1_Missense_Mutation_p.L700F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	698	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CCTTCGAAGGTAAGGAAGGGT	0.557000														30			36		0	0	0.00148497	0	0
FN1	2335	broad.mit.edu	37	2	216289927	216289927	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:216289927A>C	uc002vfa.3	-	6	1192	c.926T>G	c.(925-927)gTc>gGc	p.V309G	FN1_uc002vfc.3_Missense_Mutation_p.V309G|FN1_uc002vfe.3_Missense_Mutation_p.V309G|FN1_uc002vff.3_Missense_Mutation_p.V309G|FN1_uc002vfg.3_Missense_Mutation_p.V309G|FN1_uc002vfh.3_Missense_Mutation_p.V309G|FN1_uc002vfi.3_Missense_Mutation_p.V309G|FN1_uc002vfj.3_Missense_Mutation_p.V309G|FN1_uc002vfb.3_Missense_Mutation_p.V309G|FN1_uc002vfl.3_Missense_Mutation_p.V309G	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	309	Collagen-binding.|Fibronectin type-I 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGTCTGTGACACAGTGGCC	0.557000														114			82		0	0	0.000781405	0	0
DLK1	8788	broad.mit.edu	37	14	101201161	101201161	+	Silent	SNP	C	T	T	rs116711857	byFrequency	TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr14:101201161C>T	uc001yhs.4	+	4	1284	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A	DLK1_uc001yhu.4_Silent_p.A287A|DLK1_uc021sbs.1_Silent_p.A72A	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	360					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGACCTGGCCGTCAACATCA	0.567000														46			38		0	0	0.000953801	0	0
PDZD2	23037	broad.mit.edu	37	5	32108145	32108145	+	Silent	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr5:32108145G>A	uc003jhl.3	+	24	8812	c.8424G>A	c.(8422-8424)ctG>ctA	p.L2808L	PDZD2_uc003jhm.3_Silent_p.L2808L|PDZD2_uc003jhn.3_Non-coding_Transcript|PDZD2_uc003jho.3_Non-coding_Transcript	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2808	PDZ 6.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAAACCTCTGGTTGGGCTCA	0.388000														59			47		0	0	0.000781405	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262083	39262083	+	Missense_Mutation	SNP	A	C	C	rs75392608		TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:39262083A>C	uc010wfp.2	+	0	443	c.443A>C	c.(442-444)aAc>aCc	p.N148T		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	148	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgccagcccaactgctgccgc	0.667000														21			4		0	0	0.000602214	0	0
POLG2	11232	broad.mit.edu	37	17	62486981	62486981	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:62486981C>G	uc002jei.3	-	3	999	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	POLG2_uc021ubq.1_Missense_Mutation_p.E34Q|POLG2_uc010deg.2_Missense_Mutation_p.E301Q	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	301					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CACAGGGTTTCTATTAACTCC	0.408000														35			33		0	0	0.000491102	0	0
FCAR	2204	broad.mit.edu	37	19	55385758	55385758	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:55385758C>T	uc002qhr.1	+	0	210	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Nonsense_Mutation_p.Q5*|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_5'UTR|FCAR_uc010esi.1_5'UTR|FCAR_uc002qhu.1_Nonsense_Mutation_p.Q5*|FCAR_uc002qhv.1_Nonsense_Mutation_p.Q5*|FCAR_uc002qhw.1_Nonsense_Mutation_p.Q5*|FCAR_uc002qhx.1_Nonsense_Mutation_p.Q5*|FCAR_uc002qhy.1_Nonsense_Mutation_p.Q5*|FCAR_uc002qhz.1_Nonsense_Mutation_p.Q5*|FCAR_uc002qia.1_Nonsense_Mutation_p.Q5*	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	5					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GGACCCCAAACAGACCACCCT	0.483000														59			38		0	0	0.000781405	0	0
CDH5	1003	broad.mit.edu	37	16	66413245	66413245	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr16:66413245A>C	uc002eom.4	+	1	161	c.5A>C	c.(4-6)cAg>cCg	p.Q2P	CDH5_uc002eon.1_Missense_Mutation_p.Q2P	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	2					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GGGAAGATGCAGAGGCTCATG	0.572000														161			48		0	0	0.000781405	0	0
EPS15L1	58513	broad.mit.edu	37	19	16503123	16503123	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:16503123G>A	uc002ndx.3	-	18	2101	c.2095C>T	c.(2095-2097)Cct>Tct	p.P699S	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.P589S|EPS15L1_uc002ndz.1_Missense_Mutation_p.P699S|EPS15L1_uc010xpf.1_Missense_Mutation_p.P602S|EPS15L1_uc002nea.1_Missense_Mutation_p.P699S|EPS15L1_uc010eah.1_Missense_Mutation_p.P701S	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	699	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ACCTTCGAAGGTAAGGAAGGG	0.562000														32			36		0	0	0.00148497	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160442	9160442	+	RNA	SNP	A	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chrY:9160442A>C	uc004frl.1	-	0		c.42T>G								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		TTGAGGCCACAAATGAAAAGC	0.348000														6			2		0	0	6.4e-05	0	0
DNMBP	23268	broad.mit.edu	37	10	101646325	101646325	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr10:101646325G>C	uc001kqj.2	-	12	3442	c.3350C>G	c.(3349-3351)cCc>cGc	p.P1117R	DNMBP_uc010qpl.1_Missense_Mutation_p.P53R|DNMBP_uc001kqg.2_Missense_Mutation_p.P405R|DNMBP_uc001kqh.2_Missense_Mutation_p.P749R	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1117	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CAGCTTATGGGGCCCTGTAAA	0.502000														117			64		0	0	0.000781405	0	0
HORMAD1	84072	broad.mit.edu	37	1	150689613	150689613	+	Splice_Site	SNP	C	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr1:150689613C>T	uc001evk.2	-	3	296	c.178_splice	c.e3+1	p.D60_splice	HORMAD1_uc001evl.2_Splice_Site_p.D60_splice|HORMAD1_uc001evm.2_Splice_Site_p.W10_splice	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	60	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TATTGTATTACCATCTAGATA	0.294000														45			23		0	0	0.000375601	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414139	157414139	+	Silent	SNP	G	A	A	rs77143062	by1000genomes	TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:157414139G>A	uc003wno.3	-	14	2380	c.2259C>T	c.(2257-2259)tgC>tgT	p.C753C	PTPRN2_uc003wnp.3_Silent_p.C736C|PTPRN2_uc003wnq.3_Silent_p.C724C|PTPRN2_uc003wnr.3_Silent_p.C715C|PTPRN2_uc011kwa.2_Silent_p.C776C	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	753	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCTGGTAGGCGCACAGCGCTT	0.622000														318			14		0	0	0.000219431	0	0
PCSK6	5046	broad.mit.edu	37	15	101933522	101933522	+	Silent	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:101933522G>A	uc002bxa.2	-	8	1415	c.1101C>T	c.(1099-1101)tcC>tcT	p.S367S	PCSK6_uc010bpd.3_Silent_p.S238S|PCSK6_uc002bwy.3_Silent_p.S367S|PCSK6_uc010bpe.3_Silent_p.S364S|PCSK6_uc002bxb.2_Silent_p.S367S|PCSK6_uc002bxc.1_Silent_p.S367S|PCSK6_uc002bxd.1_Silent_p.S367S|PCSK6_uc002bxe.3_Silent_p.S367S|PCSK6_uc002bxg.1_Silent_p.S367S	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	368	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.S367S(4)|p.S202S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGCTGCTGACGGAGATGGTGT	0.597000														20			16		0	0	0.000566183	0	0
SREBF1	6720	broad.mit.edu	37	17	17722461	17722461	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:17722461T>C	uc002gru.2	-	4	1128	c.934A>G	c.(934-936)Agc>Ggc	p.S312G	SREBF1_uc002grp.2_5'Flank|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.S58G|SREBF1_uc002grs.2_Missense_Mutation_p.S288G|SREBF1_uc002grt.2_Missense_Mutation_p.S342G|SREBF1_uc010cpp.1_Missense_Mutation_p.S288G|SREBF1_uc010cpq.1_Missense_Mutation_p.S312G	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	312	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGGGCCTTGCTGCCAGCTGCG	0.607000														40			25		0	0	0.001512	0	0
ELL	8178	broad.mit.edu	37	19	18557590	18557590	+	Silent	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:18557590G>A	uc002njh.3	-	8	1572	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	ELL_uc010ebq.3_Silent_p.P443P|ELL_uc002njg.3_Silent_p.P367P	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	500					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		ACGTGGACGTGGGAACACTGG	0.607000			T	MLL	AL									18			13		0	0	0.000308642	0	0
BNC1	646	broad.mit.edu	37	15	83932666	83932666	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:83932666G>A	uc002bjt.1	-	3	1425	c.1337C>T	c.(1336-1338)aCg>aTg	p.T446M	BNC1_uc010uos.1_Missense_Mutation_p.T434M	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	446					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T446T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTCTGGGGACGTCACTGTGAA	0.527000														37			26		0	0	0.000586117	0	0
MUC5B	727897	broad.mit.edu	37	11	1247945	1247945	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr11:1247945C>G	uc001lta.3	+	3	359	c.300C>G	c.(298-300)aaC>aaG	p.N100K	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Missense_Mutation_p.N100K	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	100	VWFD 1.			FPGLCN -> LPCLCK (in Ref. 2; AAC67545).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCTTTGCAACTACGTGTTCT	0.632000														22			7		0	0	8.12818e-05	0	0
EP400	57634	broad.mit.edu	37	12	132472272	132472272	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr12:132472272T>A	uc001ujn.3	+	6	2398	c.2246T>A	c.(2245-2247)aTt>aAt	p.I749N	EP400_uc021rgq.1_Missense_Mutation_p.I748N|EP400_uc001ujm.3_Missense_Mutation_p.I749N|EP400_uc001ujj.2_Missense_Mutation_p.I712N|EP400_uc001ujk.3_Missense_Mutation_p.I785N	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	785					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CATCAGCGCATTGCGGAGCTG	0.577000														26			9		0	0	0.000978159	0	0
C6orf226	441150	broad.mit.edu	37	6	42858492	42858492	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr6:42858492G>A	uc003osw.3	-	0	63	c.35C>T	c.(34-36)cCg>cTg	p.P12L		NM_001008739	NP_001008739	Q5I0X4	CF226_HUMAN	Homo sapiens chromosome 6 open reading frame 226 (C6orf226), mRNA.	12										lung(2)	2						GGCAGAGGCCGGGGCCGAGCA	0.672000														45			24		0	0	0.000586117	0	0
PKHD1	5314	broad.mit.edu	37	6	51917922	51917922	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr6:51917922C>T	uc003pah.1	-	20	2368	c.2092G>A	c.(2092-2094)Ggc>Agc	p.G698S	PKHD1_uc003pai.3_Missense_Mutation_p.G698S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	698					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGAACAGGCCCGTCTCCTGG	0.517000														32			19		0	0	0.00188189	0	0
USP14	9097	broad.mit.edu	37	18	163336	163336	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr18:163336T>G	uc002kkf.1	+	1	261	c.45T>G	c.(43-45)ttT>ttG	p.F15L	USP14_uc002kkg.1_Missense_Mutation_p.F15L|USP14_uc010wyr.1_Missense_Mutation_p.F15L	NM_005151	NP_005142	P54578	UBP14_HUMAN	Homo sapiens ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) (USP14), transcript variant 1, mRNA.	15	Ubiquitin-like.				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGGAGAAATTTGAAGGTGTAG	0.373000														7			16		0	0	0.000422831	0	0
IRX6	79190	broad.mit.edu	37	16	55360382	55360382	+	Silent	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr16:55360382G>A	uc002ehy.3	+	1	713	c.180G>A	c.(178-180)gcG>gcA	p.A60A	IRX6_uc002ehx.3_Silent_p.A60A|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	60						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TGGGCAGTGCGCGACCGGAGC	0.657000														16			22		0	0	0.000295444	0	0
EPS15L1	58513	broad.mit.edu	37	19	16551694	16551694	+	Silent	SNP	A	G	G			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:16551694A>G	uc002ndx.3	-	3	198	c.192T>C	c.(190-192)ggT>ggC	p.G64G	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc002ndz.1_Silent_p.G64G|EPS15L1_uc010xpf.1_Splice_Site|EPS15L1_uc002nea.1_Silent_p.G64G|EPS15L1_uc010eah.1_Silent_p.G64G|EPS15L1_uc002nec.1_Silent_p.G64G	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	64	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGAACCCTTTACCTTCTGGAT	0.527000														236			152		0	0	0.000781405	0	0
ASAP2	8853	broad.mit.edu	37	2	9515020	9515020	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:9515020G>C	uc002qzh.2	+	16	2033	c.1693G>C	c.(1693-1695)Gct>Cct	p.A565P	ASAP2_uc002qzi.2_Missense_Mutation_p.A565P	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	565					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ATTGCTCCAAGCTTATGCTGA	0.473000														75			47		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179550284	179550284	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr2:179550284G>A	uc021vsy.1	-	124	28846	c.28621C>T	c.(28621-28623)Cac>Tac	p.H9541Y	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H6202Y|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10468							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)			GAAATAATGTGCAGCTTTTCT	0.353000														28			19		0	0	0.00152264	0	0
PPP4R4	57718	broad.mit.edu	37	14	94640864	94640864	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr14:94640864T>C	uc001ycs.1	+	0	216	c.62T>C	c.(61-63)aTg>aCg	p.M21T	PPP4R4_uc001ycr.3_Missense_Mutation_p.M21T	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	21						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCGGTTACATGGAGGACCTG	0.721000														28			9		0	0	0.000673444	0	0
ZNF608	57507	broad.mit.edu	37	5	123983889	123983889	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr5:123983889A>T	uc003ktq.1	-	3	2371	c.2188T>A	c.(2188-2190)Tct>Act	p.S730T	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.S730T|ZNF608_uc003ktt.1_Missense_Mutation_p.S730T	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	730						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTCAGTTTAGAGAGGTTTTTG	0.483000														23			21		0	0	0.00121646	0	0
FUBP1	8880	broad.mit.edu	37	1	78444626	78444626	+	Silent	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr1:78444626G>A	uc001dii.3	-	0	152	c.63C>T	c.(61-63)ggC>ggT	p.G21G	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Silent_p.G21G|DNAJB4_uc010orn.2_5'Flank	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	21	Gly-rich.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						caccaccaccgccgccaccac	0.602000			"""F, N"""		oligodendroglioma									8			22		0	0	0.000295444	0	0
GGT3P	2679	broad.mit.edu	37	22	18778675	18778675	+	RNA	SNP	C	T	T	rs141850257	by1000genomes	TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr22:18778675C>T	uc011ago.1	-	1		c.145G>A			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		AGACAGAGGCCGACAATGACC	0.627000														1			6		0	0	0.000442599	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451259	110451259	+	Silent	SNP	G	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr8:110451259G>A	uc003yne.3	+	31	3998	c.3894G>A	c.(3892-3894)aaG>aaA	p.K1298K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1298	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L1297I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTTGCCCAAGTTGTCTCCTG	0.393000										HNSCC(38;0.096)				97			65		0	0	0.000781405	0	0
SLC10A4	201780	broad.mit.edu	37	4	48490947	48490948	+	Frame_Shift_Ins	INS	-	TC	TC			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr4:48490947_48490948insTC	uc003gyc.2	+	2	1524_1525	c.1305_1306insTC	c.(1303-1308)acttctfs	p.T435fs	ZAR1_uc003gyd.3_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	435						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCGCTCAGACTTCTCTCTAAAT	0.351													---	51	---	---	16	---					
UFSP1	402682	broad.mit.edu	37	7	100486530	100486530	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr7:100486530delG	uc003uxc.4	-	0	810	c.363delC	c.(361-363)cccfs	p.P121fs	DJ051769_uc010lhm.1_5'Flank	NM_001015072	NP_001015072	Q6NVU6	UFSP1_HUMAN	Homo sapiens UFM1-specific peptidase 1 (non-functional) (UFSP1), mRNA.	121										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGAAGGAGTTGGGGTCAAAGG	0.567													---	93	---	---	106	---					
DOCK5	80005	broad.mit.edu	37	8	26227846	26227849	+	Frame_Shift_Del	DEL	CACA	-	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr8:26227846_26227849delCACA	uc003xeu.3	+	9	1590_1593	c.1261_1264delCACA	c.(1261-1266)cacacafs	p.H421fs	DOCK5_uc003xek.3_Frame_Shift_Del_p.H422fs|DOCK5_uc011laf.2_Frame_Shift_Del_p.H431fs|DOCK5_uc022atb.1_Non-coding_Transcript	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	481						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAAATCCTTCACACAGCCTGGCA	0.426													---	34	---	---	11	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	-	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr8:41798420_41798422delCTC	uc010lxb.3	-	15	3521_3523	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_uc010lxc.3_In_Frame_Del_p.E993del|KAT6A_uc003xon.4_In_Frame_Del_p.E993del	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													---	190	---	---	7	---					
LOC728558	728558	broad.mit.edu	37	10	97607150	97607150	+	Splice_Site	DEL	T	-	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr10:97607150delT	uc001klg.2	-	4		c.533_splice	c.e4+1		ENTPD1_uc001kli.4_Intron|ENTPD1_uc010qoj.2_Intron|ENTPD1_uc010qok.2_Intron|ENTPD1_uc010qol.2_Intron|ENTPD1_uc001klh.4_Intron|ENTPD1_uc010qom.2_Intron|ENTPD1_uc010qon.2_Intron|ENTPD1_uc009xva.3_Intron					Homo sapiens uncharacterized LOC728558 (LOC728558), non-coding RNA.																		AGACTGTACCTTTTGTATCCA	0.403													---	22	---	---	18	---					
LNX2	222484	broad.mit.edu	37	13	28136573	28136575	+	In_Frame_Del	DEL	CCG	-	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr13:28136573_28136575delCCG	uc001url.4	-	4	1508_1510	c.1199_1201delCGG	c.(1198-1203)ccggag>cag	p.400_401PE>Q	LNX2_uc001urm.1_In_Frame_Del_p.400_401PE>Q	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	400	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GCAGCAAGCTCCGGAGTTCCATA	0.512													---	87	---	---	58	---					
ITPKA	3706	broad.mit.edu	37	15	41794669	41794670	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:41794669_41794670insA	uc001znz.3	+	4	1148_1149	c.1078_1079insA	c.(1078-1080)gaafs	p.E360fs		NM_002220	NP_002211	P23677	IP3KA_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase A (ITPKA), mRNA.	360					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCGCGTCTTTGAAGAGTTTGTG	0.604													---	49	---	---	29	---					
C15orf43	145645	broad.mit.edu	37	15	45270783	45270783	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr15:45270783delA	uc001zuk.3	+	6	634	c.620delA	c.(619-621)gaafs	p.E207fs		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	207										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GTTCAAAATGAAATTAATATG	0.294													---	27	---	---	18	---					
NF1	4763	broad.mit.edu	37	17	29490388	29490388	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:29490388delC	uc002hgg.3	+	3	856	c.473delC	c.(472-474)tctfs	p.S158fs	NF1_uc002hge.2_Frame_Shift_Del_p.S158fs|NF1_uc002hgf.2_Frame_Shift_Del_p.S158fs|NF1_uc002hgh.3_Frame_Shift_Del_p.S158fs|NF1_uc010csn.2_Frame_Shift_Del_p.L54fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	158					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGTCGCATTTCTACCAGGTTA	0.368			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	48	---	---	56	---					
NF1	4763	broad.mit.edu	37	17	29552188	29552189	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr17:29552188_29552189delAG	uc002hgg.3	+	16	2304_2305	c.1921_1922delAG	c.(1921-1923)agtfs	p.S641fs	NF1_uc002hgh.3_Frame_Shift_Del_p.S641fs|NF1_uc010csn.2_Frame_Shift_Del_p.S501fs|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	641					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGAAATACCAGTCAAATGTCC	0.406			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	107	---	---	70	---					
C19orf45	374877	broad.mit.edu	37	19	7570473	7570475	+	In_Frame_Del	DEL	CGG	-	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr19:7570473_7570475delCGG	uc002mgm.2	+	5	1107_1109	c.966_968delCGG	c.(964-969)cccggc>ccc	p.G323del	C19orf45_uc010xjo.1_5'UTR	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	323										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GCCCCGGCCCCGGCAGTCTGGAC	0.571													---	46	---	---	25	---					
PARD6B	84612	broad.mit.edu	37	20	49366983	49366991	+	In_Frame_Del	DEL	TCAAAAACT	-	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr20:49366983_49366991delTCAAAAACT	uc002xvo.3	+	2	1320_1328	c.1077_1085delTCAAAAACT	c.(1075-1086)gatcaaaaactc>gac	p.QKL360del		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	360					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATGCTCCAGATCAAAAACTCTTAGAAGAA	0.397													---	52	---	---	22	---					
PLAC4	191585	broad.mit.edu	37	21	42551313	42551313	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chr21:42551313delC	uc002yyz.3	-	0	5854	c.243delG	c.(241-243)tggfs	p.W81fs	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	81													Prostate(19;2.29e-06)				gtgagggtatccagggtgagt	0.607													---	4	---	---	2	---					
PORCN	64840	broad.mit.edu	37	X	48371012	48371012	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-7044-01A-11D-1961-08	TCGA-BQ-7044-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0589e51-4685-4613-8004-44efad45180f	12341a8c-b9d0-445d-b2fd-ed077738ba31	g.chrX:48371012delG	uc010nie.1	+	5	749	c.591delG	c.(589-591)ctgfs	p.L197fs	PORCN_uc004djr.1_Frame_Shift_Del_p.L197fs|PORCN_uc004djs.1_Frame_Shift_Del_p.L197fs|PORCN_uc011mlx.1_Frame_Shift_Del_p.L126fs|PORCN_uc004dju.1_Frame_Shift_Del_p.L66fs|PORCN_uc004djv.1_Frame_Shift_Del_p.L197fs|PORCN_uc004djw.1_Frame_Shift_Del_p.L197fs	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	197					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCGGAGCCTGGCACTGGCCC	0.647													---	0	---	---	11	---					
