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
LRRC66	339977	broad.mit.edu	37	4	52861445	52861445	+	Silent	SNP	G	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:52861445G>A	uc003gzi.3	-	3	1750	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	581						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTATTTCTCCGGAGAGGGAAG	0.498000														189			9		0	0	1	0	0
HNRPLL	92906	broad.mit.edu	37	2	38818735	38818735	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:38818735C>A	uc021vgc.1	-	1	655	c.245G>T	c.(244-246)gGa>gTa	p.G82V	HNRPLL_uc021vgb.1_Missense_Mutation_p.G77V	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L-like (HNRPLL), transcript variant 1, mRNA.	82	RRM 1.				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(2)	10		all_hematologic(82;0.248)				TTCACAGAGTCCTCGAACATG	0.403000														18			64		6.72169e-28	6.89858e-28	1	1	0
ZNF592	9640	broad.mit.edu	37	15	85334093	85334093	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:85334093A>G	uc002bld.3	+	4	2714	c.2378A>G	c.(2377-2379)tAt>tGt	p.Y793C	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	793					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCCTGCACTATGCCCGCAAG	0.562000														126			15		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18692186	18692186	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:18692186C>T	uc001bau.2	+	5	1393	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M	IGSF21_uc001bav.2_Missense_Mutation_p.T158M	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	337						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCAGAGGTCACGCTGGGTAAG	0.612000														66			10		0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355200	114355200	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:114355200A>G	uc002tkh.3	+	3	635	c.577A>G	c.(577-579)Aag>Gag	p.K193E	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript|WASH2P_uc002tkf.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		gaagaagcagaaggagcagga	0.652000														10			7		0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71419536	71419536	+	Silent	SNP	C	T	T	rs139080757		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr16:71419536C>T	uc002faa.4	+	9	764	c.684C>T	c.(682-684)taC>taT	p.Y228Y	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_3'UTR	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	228	EF-hand 5.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AGGATCTGTACGAGAAAAACA	0.577000														30			4		0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110068852	110068852	+	Missense_Mutation	SNP	A	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr9:110068852A>T	uc004bde.3	+	3	815	c.421A>T	c.(421-423)Agt>Tgt	p.S141C	RAD23B_uc011lwa.2_Missense_Mutation_p.S141C|RAD23B_uc022blj.1_Missense_Mutation_p.S69C|RAD23B_uc011lwb.2_Missense_Mutation_p.S120C	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	141					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGCACCTGCTAGTGCAGCTAA	0.552000								Direct reversal of damage;Nucleotide excision repair (NER)						81			52		0	0	1	0	0
PHF5A	84844	broad.mit.edu	37	22	41863526	41863526	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr22:41863526G>A	uc003bab.3	-	2	220	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ACO2_uc003bac.3_5'Flank	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN	Homo sapiens PHD finger protein 5A (PHF5A), mRNA.	57					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	U12-type spliceosomal complex|U2 snRNP|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	p.R57S(2)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507000														109			10		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169999257	169999257	+	Silent	SNP	T	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:169999257T>C	uc002ues.3	-	70	13248	c.13035A>G	c.(13033-13035)agA>agG	p.R4345R		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4345	EGF-like 16.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCCTCCAGGTCTCAGAAGGC	0.537000														69			4		0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210836958	210836958	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:210836958A>G	uc010zjc.1	+	53	8172	c.8092A>G	c.(8092-8094)Atc>Gtc	p.I2698V	UNC80_uc021vvx.1_Missense_Mutation_p.I2693V|UNC80_uc002vdl.1_Missense_Mutation_p.I164V|UNC80_uc010zjd.1_Missense_Mutation_p.I144V|UNC80_uc010zje.1_Missense_Mutation_p.I144V	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	2698						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AAGCCATGTGATCTCCCCATT	0.393000														131			4		0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33016882	33016882	+	Missense_Mutation	SNP	A	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr13:33016882A>C	uc010abe.1	-	6	1814	c.1792T>G	c.(1792-1794)Ttt>Gtt	p.F598V	N4BP2L2_uc001uug.2_Missense_Mutation_p.F481V|N4BP2L2_uc010abd.1_Missense_Mutation_p.F511V|N4BP2L2_uc001uuh.2_Missense_Mutation_p.F429V|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.F583V	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	33										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TGTAGCACAAAAGAAGGAATA	0.323000														13			20		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73995325	73995325	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:73995325G>T	uc002avv.1	+	3	865	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	CD276_uc010bjd.1_Missense_Mutation_p.V65L|CD276_uc002avu.1_Missense_Mutation_p.V211L|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Missense_Mutation_p.V157L	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	211	Ig-like C2-type 1.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CCTGCGGGTGGTGCTGGGTGC	0.632000														78			29		8.4185e-14	8.52783e-14	1	1	0
UBQLN3	50613	broad.mit.edu	37	11	5530008	5530008	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:5530008T>C	uc021qcw.1	-	0	781	c.781A>G	c.(781-783)Att>Gtt	p.I261V	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.I261V	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	261								p.D260Y(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTCCATAATATCTGTGTAC	0.517000														70			5		0	0	1	0	0
MAGED2	10916	broad.mit.edu	37	X	54837700	54837700	+	Silent	SNP	G	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:54837700G>A	uc004dtk.1	+	4	958	c.864G>A	c.(862-864)aaG>aaA	p.K288K	MAGED2_uc004dtl.1_Silent_p.K288K|MAGED2_uc004dtm.1_Silent_p.K203K|MAGED2_uc004dtn.1_Silent_p.K288K|MAGED2_uc004dto.1_Silent_p.K262K	NM_177433	NP_957516	Q9UNF1	MAGD2_HUMAN	Homo sapiens melanoma antigen family D, 2 (MAGED2), transcript variant 2, mRNA.	288	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ATTTGGTGAAGTACCTTTTGG	0.478000														46			26		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95539559	95539559	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:95539559C>T	uc003ygo.2	-	7	984	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	KIAA1429_uc003ygp.3_Missense_Mutation_p.E305K|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	305	Glu-rich.				RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATTCCATCTTCATCACTGGAA	0.318000														42			4		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62380292	62380292	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:62380292A>G	uc001dab.3	+	25	3640	c.3526A>G	c.(3526-3528)Atc>Gtc	p.I1176V	INADL_uc009waf.1_Missense_Mutation_p.I1176V|INADL_uc001daa.2_Missense_Mutation_p.I1176V|INADL_uc001dad.3_Missense_Mutation_p.I873V|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1176					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGCCAACAAAATCACCGGTAA	0.358000														26			22		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95891977	95891977	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr10:95891977C>T	uc001kjk.3	+	2	1887	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	PLCE1_uc010qnx.2_Missense_Mutation_p.S418F|PLCE1_uc001kjm.3_Missense_Mutation_p.S110F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	418					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACAGTTGGATCTCTACTCCAT	0.428000														51			3		0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45954211	45954211	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:45954211C>T	uc001zvu.3	+	3	486	c.293C>T	c.(292-294)tCa>tTa	p.S98L	SQRDL_uc001zvv.3_Missense_Mutation_p.S98L	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	98							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CAATTGTCCTCATCTGGTCGT	0.443000														84			5		0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246811292	246811292	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:246811292A>G	uc001ibp.3	+	8	2167	c.1789A>G	c.(1789-1791)Agc>Ggc	p.S597G	CNST_uc001ibo.4_Missense_Mutation_p.S597G	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	597					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTCTGATGAGAGCTGTCTTTC	0.388000														222			5		0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56414969	56414969	+	Silent	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr18:56414969C>T	uc002lhm.1	+	16	2628	c.2370C>T	c.(2368-2370)ttC>ttT	p.F790F	MALT1_uc002lhn.1_Silent_p.F779F	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	790					T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TTTCAAGTTTCGCTCACCATG	0.403000			T	BIRC3	MALT									145			4		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183885724	183885724	+	Silent	SNP	G	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:183885724G>A	uc001gqm.3	+	16	2459	c.1998G>A	c.(1996-1998)acG>acA	p.T666T	RGL1_uc010pog.2_Silent_p.T629T|RGL1_uc010poh.2_Silent_p.T629T|RGL1_uc001gqo.3_Silent_p.T631T|RGL1_uc010poi.2_Silent_p.T602T	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	631	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding	p.T666M(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCTCGGTGACGTCCATTACCT	0.498000														103			5		0	0	1	0	0
SNTN	132203	broad.mit.edu	37	3	63649637	63649637	+	Nonsense_Mutation	SNP	A	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:63649637A>T	uc003dlr.3	+	3	330	c.310A>T	c.(310-312)Aga>Tga	p.R104*		NM_001080537	NP_001074006	A6NMZ2	SNTAN_HUMAN	Homo sapiens sentan, cilia apical structure protein (SNTN), mRNA.	104						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						GCCAAAATACAGAGAGATCCT	0.358000														242			21		0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37621034	37621034	+	Missense_Mutation	SNP	T	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr20:37621034T>G	uc002xjh.3	+	6	578	c.548T>G	c.(547-549)tTg>tGg	p.L183W	DHX35_uc010zwa.2_Missense_Mutation_p.L28W|DHX35_uc010zwc.2_Missense_Mutation_p.L152W|DHX35_uc010zwb.2_Missense_Mutation_p.L28W	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	183	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAGAGGACCTTGTACACTGAC	0.413000														168			4		0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	235341	235341	+	Missense_Mutation	SNP	A	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:235341A>T	uc011clv.1	+	8	1262	c.1147A>T	c.(1147-1149)Att>Ttt	p.I383F	SDHA_uc003jao.4_Missense_Mutation_p.I383F|SDHA_uc011clw.2_Missense_Mutation_p.I335F|SDHA_uc003jaq.4_Missense_Mutation_p.I158F|SDHA_uc021xvu.1_Missense_Mutation_p.I158F	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	383					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGCCTGGCATTTCAGAGAC	0.592000									Familial Paragangliomas					208			15		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50444370	50444370	+	Silent	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr7:50444370C>T	uc003tow.4	+	3	455	c.300C>T	c.(298-300)ggC>ggT	p.G100G	IKZF1_uc022acq.1_Silent_p.G100G|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Intron|IKZF1_uc003tox.4_Silent_p.G100G|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Intron|IKZF1_uc022acx.1_Silent_p.G100G|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Intron|IKZF1_uc003toy.4_Silent_p.G100G|IKZF1_uc003toz.4_Silent_p.G70G|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	100					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGGACCAAGGCAGCTCGGCTT	0.512000			"""D,T"""	BCL6	"""ALL, DLBCL"""									128			11		0	0	1	0	0
SRSF7	6432	broad.mit.edu	37	2	38978394	38978394	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:38978394G>A	uc002rqz.3	-	0	243	c.5C>T	c.(4-6)tCg>tTg	p.S2L	SRSF7_uc010ynp.2_Missense_Mutation_p.S2L|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA.	2					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCGTAACGCGACATGATGAC	0.627000														28			15		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102278	66102278	+	Missense_Mutation	SNP	T	G	G	rs34130975	byFrequency	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:66102278T>G	uc001dci.3	+	19	3467	c.3078T>G	c.(3076-3078)aaT>aaG	p.N1026K	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	1026					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTTTCTCTAATAGCTCATGGG	0.398000														14			42		0	0	1	0	0
ABHD14A	25864	broad.mit.edu	37	3	52014444	52014444	+	Missense_Mutation	SNP	A	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:52014444A>C	uc003dco.3	+	3	543	c.433A>C	c.(433-435)Aca>Cca	p.T145P	ABHD14B_uc003dcn.3_Intron|ACY1_uc011bea.2_Intron|ACY1_uc011beb.2_5'Flank|ACY1_uc003dcp.3_5'Flank|ACY1_uc003dcq.3_5'Flank|ACY1_uc021wzb.1_5'Flank|ACY1_uc021wzc.1_5'Flank|ACY1_uc021wzd.1_5'Flank	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	Homo sapiens abhydrolase domain containing 14A (ABHD14A), mRNA.	145						cytoplasm|integral to membrane	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGAGGCAAGCACAGAGGCAGG	0.642000														16			46		0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57724079	57724079	+	Silent	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:57724079C>T	uc002qob.3	+	3	2028	c.1614C>T	c.(1612-1614)ccC>ccT	p.P538P		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GAGAGAAGCCCTATAAATGTA	0.463000														76			4		0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46248632	46248632	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr10:46248632A>G	uc001jcu.3	+	12	1245	c.1127A>G	c.(1126-1128)gAc>gGc	p.D376G	FAM21C_uc001jcs.2_Missense_Mutation_p.D321G|FAM21C_uc010qfk.2_Missense_Mutation_p.D376G|FAM21C_uc010qfi.2_Missense_Mutation_p.D352G|FAM21C_uc010qfj.2_5'UTR	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	376										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AACCAGAGTGACCTCTTCACG	0.473000														452			7		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151163769	151163769	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:151163769T>C	uc011bod.2	-	3	4000	c.4000A>G	c.(4000-4002)Acc>Gcc	p.T1334A		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1334					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTGTTTGGGTTTCATAAGTG	0.418000														160			4		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028121	37028121	+	Silent	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:37028121C>T	uc004ddl.2	+	0	1690	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	546										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TATCTCATCTCCGCCCAGAGC	0.607000														49			3		0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220432822	220432822	+	Missense_Mutation	SNP	C	T	T	rs2292359		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:220432822C>T	uc010fwk.3	-	1	1551	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	OBSL1_uc010fwl.2_Missense_Mutation_p.E413K|OBSL1_uc002vmi.3_Missense_Mutation_p.E413K	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	413	Ig-like 4.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCCCGCATCTCGCACAGGTAG	0.637000											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		93			3		0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132945376	132945376	+	Missense_Mutation	SNP	G	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:132945376G>C	uc003qdl.1	-	0	39	c.39C>G	c.(37-39)ttC>ttG	p.F13L		NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	13						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GTGTTCTTTTGAAATGTGAAA	0.378000														110			4		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50875453	50875453	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr22:50875453G>A	uc003blb.2	+	15	2061	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	PPP6R2_uc003blc.3_Missense_Mutation_p.E547K|PPP6R2_uc003bky.2_Intron|PPP6R2_uc003bla.2_Intron|PPP6R2_uc003bkz.2_Intron|PPP6R2_uc003bld.2_Intron	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	547						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						AAGTGAGGACGAGGACATTGA	0.657000														151			6		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105359440	105359440	+	Missense_Mutation	SNP	A	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr14:105359440A>C	uc001yps.3	+	12	4207	c.3901A>C	c.(3901-3903)Acc>Ccc	p.T1301P	KIAA0284_uc010axb.3_Missense_Mutation_p.T1266P|KIAA0284_uc001ypt.3_Missense_Mutation_p.T4P	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1371						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CATGCCCAGCACCCCCGCCTC	0.687000														66			11		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48513002	48513002	+	Splice_Site	SNP	C	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:48513002C>G	uc003gyh.1	-	58	8751	c.8146_splice	c.e58-1	p.T2716_splice	FRYL_uc003gyf.1_Splice_Site_p.T112_splice|FRYL_uc003gyg.1_Splice_Site_p.T1412_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2716					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTTGAATTGTCTATGGAGAAA	0.328000														230			14		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117245	117245	+	RNA	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrGL000205.1:117245C>T	uc002kgk.4	+	0		c.623C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGGAATTCGCCCCCAGATCA	0.527000														16			6		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31590910	31590910	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:31590910T>C	uc002rnv.1	-	19	2193	c.2114A>G	c.(2113-2115)aAc>aGc	p.N705S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	705					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAAGGAGTTGTTCTTTATAGC	0.438000														105			4		0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44276195	44276195	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:44276195C>T	uc002oxl.3	-	3	1172	c.776G>A	c.(775-777)gGc>gAc	p.G259D		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	259					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CCACATGGTGCCCGGCACCAC	0.572000														67			8		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127323460	127323460	+	Silent	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr3:127323460C>T	uc003ejp.3	+	2	303	c.246C>T	c.(244-246)cgC>cgT	p.R82R	MCM2_uc011bkm.2_5'UTR|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_5'UTR	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	82	Interaction with MYST2 (By similarity).				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGGACTACCGCGCCATCCCAG	0.592000														51			3		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29450409	29450409	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr18:29450409T>C	uc002kxc.4	-	15	2678	c.2314A>G	c.(2314-2316)Act>Gct	p.T772A	TRAPPC8_uc002kxb.4_Missense_Mutation_p.T718A|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	772					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACAAATCAGTCAACAAAAGT	0.289000														210			5		0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112480083	112480083	+	Splice_Site	SNP	C	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:112480083C>G	uc003pvu.2	-	14	1978	c.1669_splice	c.e14-1	p.N557_splice	LAMA4_uc003pvv.2_Splice_Site_p.N550_splice|LAMA4_uc003pvt.2_Splice_Site_p.N550_splice	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	557	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTGACGCATTCTAAAGAAAAA	0.308000														55			5		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755515	10755515	+	Missense_Mutation	SNP	A	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:10755515A>C	uc003wtk.1	-	2	1900	c.1873T>G	c.(1873-1875)Tat>Gat	p.Y625D		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	625						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCGTCTCGATATCGAATGCCT	0.468000														85			4		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393866	164393866	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:164393866C>A	uc003iqp.4	-	0	1182	c.1021G>T	c.(1021-1023)Gtt>Ttt	p.V341F		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	341						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCACTCAGaacaataactctt	0.433000														155			4		0.00909568	0.00909568	1	1	0
CAPNS1	826	broad.mit.edu	37	19	36632120	36632120	+	Silent	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:36632120C>T	uc002odi.1	+	1	364	c.207C>T	c.(205-207)atC>atT	p.I69I	CAPNS1_uc002odk.3_Silent_p.I69I|CAPNS1_uc002odj.3_Silent_p.I69I|CAPNS1_uc002odl.3_Silent_p.I69I	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	69					positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCAGCGCCATCAGGTAAGGCG	0.692000														47			30		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46633473	46633473	+	Silent	SNP	A	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:46633473A>G	uc009zkj.1	-	2	796	c.111T>C	c.(109-111)ggT>ggC	p.G37G	SLC38A1_uc001rpb.3_Silent_p.G37G|SLC38A1_uc001rpc.3_Silent_p.G37G|SLC38A1_uc001rpd.3_Silent_p.G37G|SLC38A1_uc001rpe.3_Silent_p.G37G|SLC38A1_uc010slh.2_Intron|SLC38A1_uc001rpa.3_Silent_p.G37G	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	37					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TATTTATCTGACCATTTTCTA	0.418000														124			4		0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89104362	89104362	+	RNA	SNP	C	T	T	rs62158694	by1000genomes	TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:89104362C>T	uc010fhg.3	+	14		c.1395C>T			ANKRD36BP2_uc010fhh.3_Non-coding_Transcript|ANKRD36BP2_uc010fhi.1_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 36B pseudogene 2 (ANKRD36BP2), non-coding RNA.																		CCAAATTGAGCGACTTGAGAA	0.323000														19			3		0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15545898	15545898	+	Missense_Mutation	SNP	A	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:15545898A>T	uc001avw.4	+	3	940	c.421A>T	c.(421-423)Aac>Tac	p.N141Y	TMEM51_uc010obk.2_Missense_Mutation_p.N141Y|TMEM51_uc001avz.3_3'UTR|TMEM51_uc001avy.3_Missense_Mutation_p.N141Y|TMEM51_uc001avx.3_Missense_Mutation_p.N141Y	NM_001136216	NP_060492	Q9NW97	TMM51_HUMAN	Homo sapiens transmembrane protein 51 (TMEM51), transcript variant 1, mRNA.	141						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GATGAACACAAACTACTCAGA	0.557000														77			5		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824716	74824716	+	Missense_Mutation	SNP	G	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr14:74824716G>C	uc021rwl.1	+	0	1230	c.1230G>C	c.(1228-1230)gaG>gaC	p.E410D	VRTN_uc001xpw.4_Missense_Mutation_p.E410D	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	410					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGTACCTGGAGCATTGCATCT	0.577000														87			6		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139928655	139928655	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:139928655A>G	uc003lfs.2	+	34	7998	c.7844A>G	c.(7843-7845)gAt>gGt	p.D2615G	ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.D1371G|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.D760G|EIF4EBP3_uc003lfy.1_Missense_Mutation_p.I90V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	2615						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAAGAGATACCCGGTAA	0.557000														63			48		0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809593	5809593	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:5809593G>A	uc010qzo.2	-	0	454	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F151C(1)|p.L152R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACACCCCTAAGAAAAGTGAGG	0.522000														56			51		0	0	1	0	0
CCDC137	339230	broad.mit.edu	37	17	79633801	79633801	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:79633801C>T	uc002kbc.4	+	0	41	c.5C>T	c.(4-6)gCg>gTg	p.A2V	C17orf90_uc002kba.3_5'Flank|C17orf90_uc002kbb.3_5'Flank	NM_199287	NP_954981	Q6PK04	CC137_HUMAN	Homo sapiens coiled-coil domain containing 137 (CCDC137), mRNA.	2										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTGGAGATGGCGGGAGCTGGT	0.716000														5			3		0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84303155	84303155	+	Missense_Mutation	SNP	T	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr9:84303155T>A	uc004alz.3	-	0	442	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	TLE1_uc004aly.3_Missense_Mutation_p.M1L|TLE1_uc011lsr.2_Missense_Mutation_p.M1L|TLE1_uc004ama.1_Missense_Mutation_p.M1L|TLE1_uc011lss.1_Missense_Mutation_p.M1L|BC036431_uc004amd.3_5'Flank	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	1	Gln-rich.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TGCGGGAACATCGCTCTGGCG	0.652000														17			14		0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40364022	40364022	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:40364022A>G	uc002hzh.3	-	12	1829	c.1660T>C	c.(1660-1662)Tcc>Ccc	p.S554P		NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	554					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGGACCAGGACACAGACAGG	0.607000														112			4		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200943959	200943959	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:200943959G>A	uc001gvs.2	-	33	5014	c.4697C>T	c.(4696-4698)gCg>gTg	p.A1566V	KIF21B_uc009wzl.2_Missense_Mutation_p.A1566V|KIF21B_uc001gvr.2_Missense_Mutation_p.A1553V|KIF21B_uc010ppn.2_Missense_Mutation_p.A1553V	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1566					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATGACACCCGCACGGCAGGC	0.607000														137			6		0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223936794	223936794	+	Silent	SNP	G	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:223936794G>C	uc001hob.4	+	5	1007	c.783G>C	c.(781-783)ggG>ggC	p.G261G	CAPN2_uc010puy.2_Silent_p.G183G	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	261	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TGGTGAAGGGGCACGCGTACT	0.647000											OREG0014276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			5		0	0	1	0	0
EIF2S3	1968	broad.mit.edu	37	X	24075766	24075766	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chrX:24075766A>G	uc004dbc.3	+	3	299	c.278A>G	c.(277-279)gAc>gGc	p.D93G		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	93						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						AAGCTTGATGACCCAAGTTGC	0.383000														102			9		0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64727212	64727212	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr14:64727212C>T	uc001xha.1	-	4	1375	c.907G>A	c.(907-909)Gac>Aac	p.D303N	ESR2_uc001xgy.2_Missense_Mutation_p.D303N|ESR2_uc001xgu.3_Missense_Mutation_p.D303N|ESR2_uc001xgv.3_Missense_Mutation_p.D303N|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.D303N|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.D303N|ESR2_uc001xgz.2_Missense_Mutation_p.D303N|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	303	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.A302A(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AACTCCTTGTCGGCCAACTTG	0.582000														147			46		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128679073	128679073	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:128679073C>T	uc010sbu.2	+	7	1146	c.803C>T	c.(802-804)cCg>cTg	p.P268L	FLI1_uc010sbt.2_Missense_Mutation_p.P75L|FLI1_uc010sbv.2_Missense_Mutation_p.P235L|FLI1_uc009zci.3_Missense_Mutation_p.P202L	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	268					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ATCCTGGGCCCGACCAGCAGT	0.423000			T	EWSR1	Ewing sarcoma									75			4		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106347173	106347173	+	Splice_Site	SNP	G	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr14:106347173G>A	uc021ser.1	-	3979		c.59232_splice	c.e3979-1							Parts of antibodies, mostly variable regions.																		TGGGATTCCCGCCTGGCTCCT	0.667000														16			13		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50884111	50884111	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr15:50884111C>T	uc001zyt.4	-	25	4603	c.4321G>A	c.(4321-4323)Gta>Ata	p.V1441I	TRPM7_uc010bew.2_Missense_Mutation_p.V1441I	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	1441					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AACTTACCTACAAATGCTCCA	0.318000														84			6		0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38346943	38346943	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:38346943C>T	uc010cwu.1	+	7	1136	c.646C>T	c.(646-648)Cga>Tga	p.R216*	RAPGEFL1_uc010wfd.1_Nonsense_Mutation_p.R152*	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	422					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGAGATCCACCGAGTGGAGCC	0.647000														40			3		0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117243	46117243	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr21:46117243G>A	uc002zfw.1	+	0	157	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	43	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CCCCTGCTGCGCCCCGGCCCC	0.677000														35			5		0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89838101	89838101	+	Silent	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr16:89838101C>T	uc002fou.1	-	22	2178	c.2136G>A	c.(2134-2136)gaG>gaA	p.E712E	FANCA_uc010vpn.1_Silent_p.E712E	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	712					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTTCCCGTGGCTCCAGTCTCG	0.517000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					90			10		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100888937	100888937	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr9:100888937T>C	uc004aym.3	-	10	1456	c.1340A>G	c.(1339-1341)gAg>gGg	p.E447G	CORO2A_uc004ayl.3_Missense_Mutation_p.E447G|CORO2A_uc004ayk.3_Missense_Mutation_p.E94G	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	447					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGCATCTTCTCCTCCAACAG	0.542000														96			4		0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19680921	19680921	+	Silent	SNP	T	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr8:19680921T>C	uc022asn.1	+	5	764	c.633T>C	c.(631-633)acT>acC	p.T211T	INTS10_uc003wzj.3_Silent_p.T211T	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	211					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ATTATGTCACTAGGTCTACTC	0.323000														72			3		0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35260999	35260999	+	Splice_Site	SNP	T	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr20:35260999T>A	uc002xfv.3	-	5	805	c.382_splice	c.e5+1	p.G128_splice	SLA2_uc002xfu.3_Splice_Site_p.G128_splice	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA.	128	SH2.				B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	SH3/SH2 adaptor activity|protein N-terminus binding			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTTACTCACCTCTCCTGGTCT	0.597000														61			6		0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12695641	12695641	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr9:12695641G>A	uc003zkv.4	+	2	690	c.512G>A	c.(511-513)gGg>gAg	p.G171E		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	171					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GAAATACTGGGGCCAGATGGC	0.433000									Oculocutaneous Albinism					100			5		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247528	164247528	+	Missense_Mutation	SNP	G	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:164247528G>C	uc003iqm.2	-	1	644	c.179C>G	c.(178-180)gCc>gGc	p.A60G	NPY1R_uc021xtv.1_Missense_Mutation_p.A60G|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	60					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.L59L(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TATGATCAAGGCCAGGTTTCC	0.408000														128			10		0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154965424	154965424	+	Missense_Mutation	SNP	C	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:154965424C>G	uc001fgf.2	+	6	2076	c.1675C>G	c.(1675-1677)Ctg>Gtg	p.L559V	FLAD1_uc001fge.2_Missense_Mutation_p.L462V|FLAD1_uc001fgg.2_3'UTR|FLAD1_uc001fgh.1_3'UTR|LENEP_uc001fgi.3_5'Flank|LENEP_uc021pak.1_5'Flank	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	559					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAACCCGGCCCTGAAGTGCCT	0.607000														43			31		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285024	55285024	+	Missense_Mutation	SNP	G	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:55285024G>C	uc010erz.1	+	2	348	c.310G>C	c.(310-312)Gtt>Ctt	p.V104L	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.V104L	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	104	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTACGGTTCTGTTACTCACTC	0.532000														51			17		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64676833	64676833	+	Missense_Mutation	SNP	T	C	C	rs148849835		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:64676833T>C	uc001obx.3	-	14	2229	c.2114A>G	c.(2113-2115)tAt>tGt	p.Y705C		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	705							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCCATCTTCATAGATACCTGG	0.587000														99			10		0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136614368	136614368	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:136614368T>C	uc002tuw.3	-	10	1632	c.1556A>G	c.(1555-1557)aAt>aGt	p.N519S		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	519	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CAAATTTATATTCTGTTTCAA	0.423000														95			4		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62021160	62021160	+	Silent	SNP	G	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr17:62021160G>A	uc002jds.1	-	21	4040	c.3963C>T	c.(3961-3963)aaC>aaT	p.N1321N		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1321					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTTCATGGCGTTATAGTATT	0.547000														76			16		0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63988121	63988121	+	Nonsense_Mutation	SNP	C	T	T	rs121918295		TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:63988121C>T	uc001nyl.2	+	11	1686	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	FERMT3_uc001nym.2_Nonsense_Mutation_p.R509*	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	513	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCGTTTCCAGCGAAAGTTCAA	0.652000														39			9		0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219513452	219513452	+	Missense_Mutation	SNP	C	G	G			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr2:219513452C>G	uc002vin.3	-	5	1615	c.1179G>C	c.(1177-1179)aaG>aaC	p.K393N	ZNF142_uc002vil.3_Missense_Mutation_p.K354N|ZNF142_uc010fvt.3_Missense_Mutation_p.K230N|ZNF142_uc002vim.3_Missense_Mutation_p.K230N	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		gagcaTGCATCTTGCCTACAT	0.542000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			14		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347311	71347311	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:71347311C>T	uc011cat.2	+	3	1138	c.850C>T	c.(850-852)Cca>Tca	p.P284S	MUC7_uc011cau.2_Missense_Mutation_p.P284S|MUC7_uc003hfj.3_Missense_Mutation_p.P284S	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	284	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CACAGCTGCCCCACCCACACC	0.577000														274			6		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228432096	228432096	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:228432096delA	uc009xez.1	+	10	3349	c.3305delA	c.(3304-3306)cagfs	p.Q1102fs	OBSCN_uc001hsn.3_Frame_Shift_Del_p.Q1102fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1102	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCAGGCCCAGACGGAGGTG	0.597													---	122	---	---	8	---					
HNRNPU	3192	broad.mit.edu	37	1	245025801	245025803	+	In_Frame_Del	DEL	TCT	-	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr1:245025801_245025803delTCT	uc001iaz.1	-	2	1055_1057	c.837_839delAGA	c.(835-840)gaagat>gat	p.E279del	HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_In_Frame_Del_p.E260del	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	279	B30.2/SPRY.				CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GAAGTGTTCATCTTCTTCTTCAA	0.394													---	160	---	---	15	---					
MTTP	4547	broad.mit.edu	37	4	100503089	100503091	+	In_Frame_Del	DEL	ATG	-	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr4:100503089_100503091delATG	uc011cej.2	+	1	183_185	c.170_172delATG	c.(169-174)aatgac>aac	p.D58del	MTTP_uc003hvc.4_In_Frame_Del_p.D31del|MTTP_uc003hvb.3_In_Frame_Del_p.D31del	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	31	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCATTAAATAATGACCGGCTGTA	0.458													---	156	---	---	21	---					
SOWAHA	134548	broad.mit.edu	37	5	132149586	132149590	+	Frame_Shift_Del	DEL	ACCCT	-	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr5:132149586_132149590delACCCT	uc003kxw.3	+	0	554_558	c.273_277delACCCT	c.(271-279)gcacccttcfs	p.A91fs		NM_175873	NP_787069	Q2M3V2	ANR43_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member A (SOWAHA), mRNA.	91	Pro-rich.																CCGAGCCCGCACCCTTCGGCCCCCC	0.712													---	4	---	---	2	---					
MTCH1	23787	broad.mit.edu	37	6	36938223	36938223	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:36938223delG	uc003one.4	-	9	981	c.981delC	c.(979-981)cccfs	p.P327fs	MTCH1_uc003onc.1_Frame_Shift_Del_p.P310fs|MTCH1_uc010jwo.1_Non-coding_Transcript|MTCH1_uc003ond.1_Frame_Shift_Del_p.P327fs|MTCH1_uc011dtt.2_Frame_Shift_Del_p.P142fs	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	Homo sapiens mitochondrial carrier 1 (MTCH1), nuclear gene encoding mitochondrial protein, mRNA.	327					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CTAGCAGGAAGGGGTAGGTCA	0.622													---	60	---	---	15	---					
MED23	9439	broad.mit.edu	37	6	131919846	131919846	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr6:131919846delT	uc003qcs.1	-	18	2450	c.2276delA	c.(2275-2277)aatfs	p.N759fs	MED23_uc003qcq.3_Frame_Shift_Del_p.N765fs|MED23_uc011eca.1_Frame_Shift_Del_p.N400fs|MED23_uc003qct.1_Frame_Shift_Del_p.N765fs	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	759					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.N759fs*7(2)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCCTCCACATTTTTTTTCAG	0.378													---	158	---	---	7	---					
SWAP70	23075	broad.mit.edu	37	11	9735070	9735070	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr11:9735070delA	uc001mhw.3	+	2	397	c.298delA	c.(298-300)aaafs	p.K100fs	SWAP70_uc001mhv.3_Frame_Shift_Del_p.K100fs|SWAP70_uc001mhx.3_Intron	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	Homo sapiens SWAP switching B-cell complex 70kDa subunit (SWAP70), mRNA.	100						cytoplasm|lamellipodium|nucleus|plasma membrane	DNA binding|calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CCTCTGTGTCAAAAAAAACCT	0.343													---	176	---	---	7	---					
TAS2R30	259293	broad.mit.edu	37	12	11286136	11286137	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:11286136_11286137insA	uc009zhs.1	-	0	707_708	c.707_708insT	c.(706-708)ctgfs	p.L236fs	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TGGCACATAACAGAAGAAAGGA	0.411													---	235	---	---	8	---					
WNT1	7471	broad.mit.edu	37	12	49373357	49373365	+	In_Frame_Del	DEL	CTGATACGC	-	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr12:49373357_49373365delCTGATACGC	uc001rsu.3	+	1	409_417	c.211_219delCTGATACGC	c.(211-219)ctgatacgcdel	p.LIR71del		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	71					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of DNA damage checkpoint|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of Notch signaling pathway|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.R70S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		ACAGCGGCGTCTGATACGCCAAAATCCGG	0.603													---	49	---	---	14	---					
PCDH8	5100	broad.mit.edu	37	13	53420463	53420465	+	In_Frame_Del	DEL	GGT	-	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr13:53420463_53420465delGGT	uc001vhi.3	-	0	2311_2313	c.2107_2109delACC	c.(2107-2109)accdel	p.T703del	PCDH8_uc001vhj.3_In_Frame_Del_p.T703del	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	703	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGACAGTTGCGGTGGTGGTGAGC	0.714													---	4	---	---	2	---					
NUCB1	4924	broad.mit.edu	37	19	49425109	49425111	+	In_Frame_Del	DEL	AGC	-	-			TCGA-KN-8432-01A-11D-2310-10	TCGA-KN-8432-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ed2434-da94-4333-90ca-6ca4691cbdd3	7d556f90-8997-4e2f-9f30-23814aa3c222	g.chr19:49425109_49425111delAGC	uc002plb.4	+	11	1533_1535	c.1199_1201delAGC	c.(1198-1203)aagcag>aag	p.Q407del	Mir_324_uc021uxc.1_5'Flank|NUCB1_uc002pld.3_In_Frame_Del_p.Q70del	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	407	Poly-Gln.					ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.640													---	131	---	---	7	---					
