Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PCDH15	65217	broad.mit.edu	37	10	55839185	55839185	+	Splice_Site	SNP	C	C	T			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr10:55839185C>T	uc010qhy.1	-	18	2408	c.2013_splice	c.e18-1	p.T671_splice	PCDH15_uc010qhq.2_Splice_Site_p.T671_splice|PCDH15_uc010qhr.2_Splice_Site_p.T666_splice|PCDH15_uc021pqv.1_Splice_Site_p.T666_splice|PCDH15_uc021pqw.1_Splice_Site_p.T678_splice|PCDH15_uc010qht.2_Splice_Site_p.T673_splice|PCDH15_uc021pqx.1_Splice_Site_p.T666_splice|PCDH15_uc001jjv.1_Splice_Site_p.T644_splice|PCDH15_uc021pqy.1_Splice_Site_p.T666_splice|PCDH15_uc021pqz.1_Splice_Site_p.T644_splice|PCDH15_uc010qhv.1_Splice_Site_p.T666_splice|PCDH15_uc010qhw.1_Splice_Site_p.T629_splice|PCDH15_uc010qhx.1_Splice_Site_p.S595_splice|PCDH15_uc010qhz.1_Splice_Site_p.T666_splice|PCDH15_uc010qia.1_Splice_Site_p.T644_splice|PCDH15_uc001jju.1_Splice_Site_p.T666_splice|PCDH15_uc010qib.1_Splice_Site_p.T644_splice|PCDH15_uc001jjw.3_Splice_Site_p.T666_splice	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	666	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATCCCCGTGCTAGTGACAAA	0.413000										HNSCC(58;0.16)			4	219					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63008557	63008557	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr15:63008557G>A	uc002alb.4	+	19	2662	c.2662G>A	c.(2662-2664)Gac>Aac	p.D888N		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	888	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAGAATGAGGACCAGCAGCA	0.483000													3	77					0	0	1	0	0
GUSBP11	91316	broad.mit.edu	37	22	23981105	23981105	+	RNA	SNP	A	A	C			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:23981105A>C	uc002zxh.4	-	4		c.3385T>G			GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Non-coding_Transcript|GUSBP11_uc010gua.3_Non-coding_Transcript|GUSBP11_uc002zxl.4_Non-coding_Transcript|GUSBP11_uc011aiz.2_Non-coding_Transcript					Homo sapiens glucuronidase, beta pseudogene 11 (GUSBP11), non-coding RNA.																		GAACAGAATGACCGACGGGGT	0.562000													3	40					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16488065	16488065	+	Splice_Site	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr19:16488065G>A	uc002ndx.3	-	22	2254	c.2248_splice	c.e22-1	p.P750_splice	EPS15L1_uc002ndy.3_Intron|EPS15L1_uc010xpe.1_Intron|EPS15L1_uc002ndz.1_Splice_Site_p.P750_splice|EPS15L1_uc010xpf.1_Splice_Site_p.P653_splice|EPS15L1_uc002nea.1_Intron|EPS15L1_uc010eah.1_Intron	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	750	15 X 3 AA repeats of D-P-F.|Pro-rich.				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						GAAGGTGGGGGCTGTAAGAGA	0.517000											OREG0025332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	112					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													4	6					0	0	1	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153631329	153631329	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chrX:153631329G>A	uc004fks.1	-	6	919	c.728C>T	c.(727-729)gCg>gTg	p.A243V	RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Missense_Mutation_p.A243V|DNASE1L1_uc004fku.1_Missense_Mutation_p.A243V|DNASE1L1_uc004fkv.1_Missense_Mutation_p.A243V|DNASE1L1_uc004fkw.1_Missense_Mutation_p.A243V	NM_006730	NP_006721	P49184	DNSL1_HUMAN	Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA.	243					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAAGGCAGCCGCAGTGTGCAG	0.657000													3	77					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117245849	117245849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr6:117245849C>T	uc003pxm.3	+	14	1636	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	525					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.R525*(2)|p.R525Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCATTTGATTCGAATGCTTCT	0.388000													20	93					0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120650308	120650308	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:120650308C>T	uc001txv.3	-	10	1769	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	LOC100506649_uc021reu.1_Non-coding_Transcript|PXN_uc001txu.3_Missense_Mutation_p.E341K|PXN_uc001txx.3_Missense_Mutation_p.E362K|PXN_uc001txt.3_Missense_Mutation_p.E529K|PXN_uc001txy.3_Missense_Mutation_p.E495K|PXN_uc001txz.3_Non-coding_Transcript	NM_001243756	NP_001230685	P49023	PAXI_HUMAN	Homo sapiens paxillin (PXN), transcript variant 3, mRNA.	529	LIM zinc-binding 4.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGCGCCGCTCGTGGTAGTGC	0.642000													23	114					0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37369385	37369385	+	Splice_Site	SNP	C	C	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:37369385C>A	uc002hrs.3	-	10	1279	c.994_splice	c.e10-1	p.G332_splice	STAC2_uc010cvt.3_Splice_Site_p.G190_splice	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	332	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCGATCTTGCCCTGGGGATGA	0.612000													5	167					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38047326	38047326	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:38047326C>T	uc003chj.3	+	16	2280	c.1994C>T	c.(1993-1995)gCg>gTg	p.A665V	VILL_uc003chl.3_Missense_Mutation_p.A665V	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	665					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAAGGAGGCGGTGGCCTGG	0.657000													18	157					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr6:45390463G>A	uc011dvx.2	+	2	402	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_uc011dvy.2_Silent_p.Q64Q|RUNX2_uc003oxt.3_Silent_p.Q50Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736000													3	54					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198665988	198665988	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr1:198665988C>T	uc001gur.1	+	3	422	c.242C>T	c.(241-243)aCc>aTc	p.T81I	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc021pgy.1_Missense_Mutation_p.T83I|PTPRC_uc010ppg.1_Intron|PTPRC_uc001guu.1_Missense_Mutation_p.T124I|PTPRC_uc001guv.1_Intron|PTPRC_uc001guw.1_Intron	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	81					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AATACTTCCACCCAAGTATCC	0.413000													16	145					0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31961946	31961946	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr20:31961946G>A	uc010gek.3	-	9	1346	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	CDK5RAP1_uc002wyy.3_Missense_Mutation_p.R304C|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.R394C|CDK5RAP1_uc002wza.3_Missense_Mutation_p.R394C|CDK5RAP1_uc010gel.3_Missense_Mutation_p.R304C|CDK5RAP1_uc010gem.3_Missense_Mutation_p.R317C|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R394C|CDK5RAP1_uc002wzb.1_5'Flank	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	408					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TCCAACACACGGCTGCTTCCA	0.502000													61	372					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139912649	139912649	+	Silent	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr9:139912649G>A	uc004ckm.1	-	13	2111	c.2061C>T	c.(2059-2061)taC>taT	p.Y687Y	ABCA2_uc022bpy.1_Silent_p.Y588Y|ABCA2_uc022bpz.1_Silent_p.Y658Y|ABCA2_uc011mem.1_Silent_p.Y657Y|ABCA2_uc004ckl.1_Silent_p.Y588Y|ABCA2_uc004ckn.1_Non-coding_Transcript|ABCA2_uc004cko.1_Silent_p.Y434Y	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	657					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGACGAAGCCGTAGAGGAAGT	0.642000													3	49					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415601	19415601	+	RNA	SNP	T	T	C			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr13:19415601T>C	uc010tcj.1	-	0		c.30509A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		gcactccagcttgggcaacaa	0.433000													2	8					0	0	1	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998648	8998648	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr8:8998648A>C	uc022arp.1	-	0	514	c.514T>G	c.(514-516)Tac>Gac	p.Y172D	PPP1R3B_uc003wsn.4_Missense_Mutation_p.Y172D|PPP1R3B_uc003wso.4_Missense_Mutation_p.Y172D	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	172	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AAGTCTGTGTAGCTCTTCCAG	0.493000													20	156					0	0	1	0	0
YAE1D1	57002	broad.mit.edu	37	7	39610133	39610133	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr7:39610133G>A	uc003thc.4	+	1	173	c.158G>A	c.(157-159)gGc>gAc	p.G53D		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	Homo sapiens Yae1 domain containing 1 (YAE1D1), mRNA.	53																	ATAGATGCTGGCAAAGCAGTT	0.368000													3	82					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36641948	36641948	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr8:36641948G>A	uc010lvw.3	+	0	107	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	7						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTAAGCTACGAAATGAAACT	0.453000													6	43					0	0	1	0	0
SERHL2	253190	broad.mit.edu	37	22	42967138	42967138	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:42967138C>A	uc003bcr.3	+	9	762	c.660C>A	c.(658-660)agC>agA	p.S220R	SERHL2_uc011apn.1_Missense_Mutation_p.S237R|SERHL2_uc010gyz.3_Missense_Mutation_p.S156R|SERHL2_uc010gyy.3_Non-coding_Transcript|SERHL2_uc011apo.2_Non-coding_Transcript|RRP7B_uc003bcs.3_Intron	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	Homo sapiens serine hydrolase-like 2 (SERHL2), mRNA.	220						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CAGAGAACAGCATTGACTTCA	0.537000													3	102					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124236942	124236942	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:124236942G>A	uc001ufr.3	+	16	2416	c.2168G>A	c.(2167-2169)tGt>tAt	p.C723Y		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	723					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GAAATGGCGTGTGAAGAGGTA	0.343000													3	87					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181921	128181921	+	Silent	SNP	C	C	G			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:128181921C>G	uc003ekk.1	-	2	1829	c.168G>C	c.(166-168)ctG>ctC	p.L56L	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Silent_p.L56L	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	56	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGGAGTCAGACAGAACCTCAT	0.612000													23	218					0	0	1	0	0
TCTA	6988	broad.mit.edu	37	3	49449979	49449981	+	In_Frame_Del	DEL	GCT	-	-			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:49449979_49449981delGCT	uc003cwv.4	+	0	341_343	c.120_122delGCT	c.(118-123)aagctg>aag	p.L44del	RHOA_uc010hku.3_5'Flank|RHOA_uc003cwu.3_5'Flank	NM_022171	NP_071503	P57738	TCTA_HUMAN	Homo sapiens T-cell leukemia translocation altered gene (TCTA), mRNA.	44						integral to membrane				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTCTTCAAGCTGCTGCTGCTG	0.645													8	457	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	Frame_Shift_Del	DEL	C	-	-	rs11353848		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr7:149518533delC	uc010lpk.3	+	87	12593	c.12593delC	c.(12592-12594)tccfs	p.S4198fs	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4201	TSP type-1 19.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGAGCAGTCCCAGAGCCAG	0.711													4	6	---	---	---	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	-	-			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr11:281553_281555delGAG	uc010qvs.2	+	3	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_uc010qvt.2_In_Frame_Del_p.E611del	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													7	305	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62299581	62299581	+	Frame_Shift_Del	DEL	C	-	-			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr11:62299581delC	uc001ntl.3	-	4	2608	c.2308delG	c.(2308-2310)gatfs	p.D770fs	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	770					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTTCACATCCACTTCTGGG	0.502													46	333	---	---	---	---					
PRPF40B	25766	broad.mit.edu	37	12	50025258	50025258	+	Frame_Shift_Del	DEL	C	-	-			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:50025258delC	uc001rur.1	+	1	156	c.93delC	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CACCAGCTATCCCCCCCATGC	0.607													7	390	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	-	-			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:121134166_121134168delGAA	uc001tyy.1	+	4	848_850	c.697_699delGAA	c.(697-699)gaadel	p.E238del		NM_014730	NP_055545	Q14165	MLEC_HUMAN	Homo sapiens malectin (MLEC), mRNA.	238	Poly-Glu.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													8	180	---	---	---	---					
