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
TNIK	23043	broad.mit.edu	37	3	170912426	170912426	+	Splice_Site	SNP	T	G	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:170912426T>G	uc003fhh.2	-	5	652	c.307_splice	c.e5-1	p.L103_splice	TNIK_uc003fhi.2_Splice_Site_p.L103_splice|TNIK_uc003fhj.2_Splice_Site_p.L103_splice|TNIK_uc003fhk.2_Splice_Site_p.L103_splice|TNIK_uc003fhl.2_Splice_Site_p.L103_splice|TNIK_uc003fhm.2_Splice_Site_p.L103_splice|TNIK_uc003fhn.2_Splice_Site_p.L103_splice|TNIK_uc003fho.2_Splice_Site_p.L103_splice	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	103	Protein kinase.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CATCACCAACTGGCAAAGGAA	0.443000														279			23		0	0	0.023175	0	0
KCNJ2	3759	broad.mit.edu	37	17	68172063	68172063	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:68172063G>A	uc010dfg.3	+	1	1284	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	KCNJ2_uc002jir.3_Missense_Mutation_p.V295M|KCNJ2_uc021ucj.1_Missense_Mutation_p.V295M	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	295					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CTTTGAAATCGTGGTCATACT	0.458000														303			13		0	0	0.016723	0	0
FBN3	84467	broad.mit.edu	37	19	8206691	8206691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:8206691G>A	uc002mjf.3	-	6	792	c.775C>T	c.(775-777)Cag>Tag	p.Q259*		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	259	EGF-like 2; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGCCTCcctggcacaggcct	0.622000														262			18		0	0	0.010504	0	0
PRKCH	5583	broad.mit.edu	37	14	61789073	61789073	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:61789073C>T	uc001xfn.3	+	0	559	c.254C>T	c.(253-255)gCc>gTc	p.A85V	PRKCH_uc010tsa.2_Intron|BC050301_uc001xfm.3_Intron	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	85	C2.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	p.A85V(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTCGAGTTGGCCGTCTTCCAC	0.642000														267			5		0	0	0.021553	0	0
NONO	4841	broad.mit.edu	37	X	70519912	70519912	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:70519912C>T	uc004dzo.3	+	12	2112	c.1402C>T	c.(1402-1404)Cgt>Tgt	p.R468C	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.R468C|NONO_uc004dzp.3_Missense_Mutation_p.R468C|NONO_uc011mpv.2_Missense_Mutation_p.R379C|NONO_uc004dzq.3_Missense_Mutation_p.R337C|ITGB1BP2_uc004dzr.1_5'Flank|ITGB1BP2_uc004dzs.1_5'Flank	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	468					DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCCAAACAAACGTCGCCGATA	0.468000			T	TFE3	papillary renal cancer									480			30		0	0	0.013726	0	0
MMP9	4318	broad.mit.edu	37	20	44641961	44641961	+	Silent	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:44641961G>A	uc002xqz.3	+	8	1417	c.1398G>A	c.(1396-1398)acG>acA	p.T466T		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	466					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.T466M(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CTCCCCCGACGGTCTGCCCCA	0.687000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		463			46		0	0	0.014410	0	0
SGK2	10110	broad.mit.edu	37	20	42198157	42198157	+	Splice_Site	SNP	G	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:42198157G>T	uc002xkv.3	+	5	759	c.540_splice	c.e5+1	p.E180_splice	SGK2_uc002xkr.3_Splice_Site_p.E120_splice|SGK2_uc010ggm.3_Splice_Site_p.E120_splice|SGK2_uc002xkt.3_Splice_Site|SGK2_uc002xku.3_Splice_Site_p.E120_splice	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	180	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGGGGGAGAGGTGGGTGGGCC	0.607000														287			19		3.83957e-06	4.03349e-06	0.016522	1	0
AP2B1	163	broad.mit.edu	37	17	33977630	33977630	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:33977630G>A	uc002hjr.3	+	12	1807	c.1618G>A	c.(1618-1620)Gta>Ata	p.V540I	AP2B1_uc002hjq.3_Missense_Mutation_p.V540I|AP2B1_uc010wci.2_Missense_Mutation_p.V502I|AP2B1_uc002hjs.3_Missense_Mutation_p.V483I|AP2B1_uc002hjt.3_Missense_Mutation_p.V540I|AP2B1_uc010ctv.3_Missense_Mutation_p.V540I|AP2B1_uc010wcj.2_Missense_Mutation_p.V277I	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	540					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGCTAAAGAAGTAGTCTTGTC	0.473000														572			47		0	0	0.045515	0	0
CPA2	1358	broad.mit.edu	37	7	129909574	129909574	+	Silent	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr7:129909574C>T	uc003vpq.3	+	2	238	c.219C>T	c.(217-219)aaC>aaT	p.N73N	CPA2_uc011kpc.1_Silent_p.N73N	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	73					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCTTCGTCAACGTCCAGGCAG	0.502000														351			20		0	0	0.043863	0	0
CDRT1	374286	broad.mit.edu	37	17	15517181	15517181	+	Silent	SNP	A	C	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:15517181A>C	uc002gor.1	-	8	2104	c.1767T>G	c.(1765-1767)cgT>cgG	p.R589R	CDRT1_uc002gov.4_Silent_p.R279R			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	279										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TGGGCAGGTAACGGATGAAGT	0.512000														399			17		0	0	0.018920	0	0
ULK4	54986	broad.mit.edu	37	3	41504591	41504591	+	Missense_Mutation	SNP	C	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:41504591C>A	uc003ckv.4	-	32	3581	c.3380G>T	c.(3379-3381)cGg>cTg	p.R1127L		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	1127							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAAAGCCAGCCGTACAATACC	0.443000														347			33		6.00712e-18	6.71764e-18	0.012213	1	0
ZNF512B	57473	broad.mit.edu	37	20	62597787	62597787	+	Silent	SNP	G	A	A	rs142867495	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:62597787G>A	uc002yhl.1	-	4	795	c.741C>T	c.(739-741)ccC>ccT	p.P247P		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P247P(2)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTTGGTGACGGGCATGGGCC	0.597000														885			69		0	0	0.014410	0	0
SPAG17	200162	broad.mit.edu	37	1	118535130	118535130	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:118535130T>G	uc001ehk.2	-	35	5388	c.5320A>C	c.(5320-5322)Ata>Cta	p.I1774L	SPAG17_uc021osr.1_Missense_Mutation_p.I284L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1774						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCATTCTTTATGACCTCATGC	0.473000														547			13		0	0	0.020292	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559172	140559172	+	Silent	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:140559172G>A	uc011dai.2	+	0	1802	c.1557G>A	c.(1555-1557)tcG>tcA	p.S519S	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	519	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCAGGTCGCTGGACTACG	0.687000														811			22		0	0	0.012319	0	0
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	T	T	rs138271368		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:39673185C>T	uc002hwy.3	-	2	804	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_uc002hwz.3_Missense_Mutation_p.V107I|KRT15_uc002hxa.3_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(6)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612000														377			19		0	0	0.008871	0	0
REM1	28954	broad.mit.edu	37	20	30064350	30064350	+	Silent	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:30064350C>T	uc002wwa.3	+	1	386	c.102C>T	c.(100-102)agC>agT	p.S34S		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	34					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity|calmodulin binding	p.S34R(4)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCGCCTGAGCACAGTGCCTT	0.642000														375			40		0	0	0.021022	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	Silent	SNP	T	C	C	rs139643347	by1000genomes	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:141070111T>C	uc010ncq.3	+	3	1191	c.351T>C	c.(349-351)tcT>tcC	p.S117S						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697000														320			7		0	0	0.008291	0	0
MCM4	4173	broad.mit.edu	37	8	48887486	48887486	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:48887486C>T	uc003xqk.2	+	14	3155	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	MCM4_uc003xql.2_Missense_Mutation_p.R777W|MCM4_uc011ldi.2_Missense_Mutation_p.R764W	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	777					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|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AACTGATCCCCGGACTGGCAT	0.408000														404			14		0	0	0.016723	0	0
NLRP10	338322	broad.mit.edu	37	11	7981305	7981305	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:7981305A>T	uc001mfv.1	-	1	1871	c.1854T>A	c.(1852-1854)tgT>tgA	p.C618*		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	618							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGACAGAAGGACATTTTTGCT	0.398000														333			14		0	0	0.016723	0	0
UBR4	23352	broad.mit.edu	37	1	19455510	19455510	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:19455510G>A	uc001bbi.3	-	60	8969	c.8965C>T	c.(8965-8967)Cga>Tga	p.R2989*	UBR4_uc001bbk.1_Nonsense_Mutation_p.R636*	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2989					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCAACGTTTCGTAATTGAGGC	0.502000														433			23		0	0	0.016522	0	0
LOC644669	644669	broad.mit.edu	37	18	15316743	15316743	+	RNA	SNP	A	G	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr18:15316743A>G	uc002ktd.1	-	4		c.291T>C								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		AGCCTCATCAAGTGTTCCTTC	0.428000														22			6		0	0	0.020292	0	0
MMEL1	79258	broad.mit.edu	37	1	2530110	2530110	+	Silent	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:2530110G>A	uc001ajy.2	-	11	1375	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	387					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGTAGGTGTCGATGATGTTTT	0.542000														313			27		0	0	0.024334	0	0
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:124887093C>T	uc021rga.1	-	13	1614	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_uc021rgb.1_Silent_p.Q499Q|NCOR2_uc010tbb.2_Silent_p.Q499Q|NCOR2_uc010tbc.2_Silent_p.Q498Q|NCOR2_uc021rgc.1_Silent_p.Q498Q|NCOR2_uc010tba.2_Silent_p.Q499Q|NCOR2_uc001ugj.1_Silent_p.Q499Q	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	499	Poly-Gln.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity	p.Q499Q(14)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617000														30			4		0	0	0.009096	0	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775481	27775481	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:27775481G>C	uc003njl.3	-	0	229	c.204C>G	c.(202-204)aaC>aaG	p.N68K	HIST1H3H_uc003njm.3_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	Homo sapiens histone cluster 1, H2bl (HIST1H2BL), mRNA.	68					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CGAAGATGTCGTTGACGAAGG	0.597000														749			69		0	0	0.014410	0	0
ST5	6764	broad.mit.edu	37	11	8724252	8724252	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:8724252G>A	uc001mgt.3	-	13	2773	c.2587C>T	c.(2587-2589)Cgg>Tgg	p.R863W	ST5_uc009yfr.3_Missense_Mutation_p.R443W|ST5_uc001mgu.3_Missense_Mutation_p.R443W|ST5_uc001mgv.3_Missense_Mutation_p.R863W|ST5_uc010rbp.2_Missense_Mutation_p.R376W|ST5_uc009yfs.3_Non-coding_Transcript	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	863	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCCATGGGCCGCCGCAGCTCT	0.612000														288			13		0	0	0.016723	0	0
RGS21	431704	broad.mit.edu	37	1	192321195	192321195	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:192321195G>A	uc001gsh.3	+	3	281	c.107G>A	c.(106-108)cGa>cAa	p.R36Q		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	36	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GATGCTTTTCGAATATTTCTA	0.299000														158			17		0	0	0.008871	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492919	21492919	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:21492919G>A	uc002wsi.3	-	1	821	c.464C>T	c.(463-465)gCg>gTg	p.A155V		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	155					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCGCTCGGGCGCCGACAGGTA	0.672000														131			5		0	0	0.014758	0	0
C8A	731	broad.mit.edu	37	1	57378141	57378141	+	Missense_Mutation	SNP	C	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:57378141C>A	uc001cyo.2	+	9	1578	c.1446C>A	c.(1444-1446)aaC>aaA	p.N482K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	482	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGCGCCAGAACCTGCGCCGCG	0.622000														494			14		1.49906e-05	1.55902e-05	0.020292	1	0
CNTN5	53942	broad.mit.edu	37	11	100141958	100141958	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:100141958C>T	uc001pga.3	+	17	2803	c.2299C>T	c.(2299-2301)Cgc>Tgc	p.R767C	CNTN5_uc001pfz.3_Missense_Mutation_p.R767C|CNTN5_uc021qpb.1_Missense_Mutation_p.R767C|CNTN5_uc021qpc.1_Missense_Mutation_p.R693C|CNTN5_uc010ruk.2_Missense_Mutation_p.R38C	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	767					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCGAATGATCCGCACAAATGA	0.443000														137			4		0	0	0.009096	0	0
LCE1D	353134	broad.mit.edu	37	1	152770432	152770432	+	Silent	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:152770432C>T	uc021ozh.1	+	0	162	c.162C>T	c.(160-162)ggC>ggT	p.G54G	LCE1D_uc009wnp.3_Silent_p.G54G	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	Homo sapiens late cornified envelope 1D (LCE1D), mRNA.	54	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGGGGGCGGCTGTGGCT	0.677000														495			41		0	0	0.039052	0	0
ATG2B	55102	broad.mit.edu	37	14	96790267	96790267	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:96790267C>T	uc001yfi.3	-	15	2871	c.2506G>A	c.(2506-2508)Gat>Aat	p.D836N		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	836										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GATGTTGTATCTCCATCTACT	0.348000														274			11		0	0	0.013537	0	0
FAM208A	23272	broad.mit.edu	37	3	56662562	56662562	+	Silent	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:56662562C>T	uc003did.4	-	17	3746	c.3645G>A	c.(3643-3645)ttG>ttA	p.L1215L	FAM208A_uc003dib.4_Silent_p.L334L|FAM208A_uc003dic.4_Silent_p.L839L|FAM208A_uc003die.4_Silent_p.L1276L	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	1276										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GAATAATAATCAATAGTTTAT	0.274000														197			18		0	0	0.038395	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460205	107460205	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:107460205G>A	uc002tdq.3	-	1	348	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R77C|ST6GAL2_uc002tds.3_Missense_Mutation_p.R77C	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	77					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCGCCTGGCGTGCGTCCAGG	0.677000														240			25		0	0	0.016522	0	0
SULF1	23213	broad.mit.edu	37	8	70512900	70512900	+	Missense_Mutation	SNP	C	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:70512900C>A	uc003xyg.2	+	7	1358	c.797C>A	c.(796-798)cCa>cAa	p.P266Q	SULF1_uc010lza.1_Missense_Mutation_p.P266Q|SULF1_uc003xyd.2_Missense_Mutation_p.P266Q|SULF1_uc003xye.2_Missense_Mutation_p.P266Q|SULF1_uc003xyf.2_Missense_Mutation_p.P266Q|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	266					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACACAGGACCAATGCTGCCC	0.393000														533			18		5.35267e-07	5.68038e-07	0.043863	1	0
COL5A1	1289	broad.mit.edu	37	9	137593108	137593108	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:137593108G>A	uc004cfe.3	+	3	965	c.583G>A	c.(583-585)Gac>Aac	p.D195N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	195	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGACCGCAGCGACCACCCCAT	0.527000														135			9		0	0	0.006214	0	0
TTC30A	92104	broad.mit.edu	37	2	178482747	178482747	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:178482747C>T	uc002ulo.3	-	0	948	c.683G>A	c.(682-684)gGc>gAc	p.G228D		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	228					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGTGGTCATGCCCACACCTAG	0.527000														302			5		0	0	0.021553	0	0
EMR2	30817	broad.mit.edu	37	19	14854232	14854232	+	Splice_Site	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:14854232C>T	uc002mzp.1	-	20	2919	c.2463_splice	c.e20+1	p.T821_splice	EMR2_uc010dzs.1_Splice_Site_p.T280_splice|EMR2_uc010xnw.1_Splice_Site_p.T763_splice|EMR2_uc002mzo.1_Splice_Site_p.T810_splice|EMR2_uc002mzq.1_Splice_Site_p.T761_splice|EMR2_uc002mzr.1_Splice_Site_p.T772_splice|EMR2_uc002mzs.1_Splice_Site_p.T679_splice|EMR2_uc002mzt.1_Splice_Site_p.T717_splice|EMR2_uc002mzu.1_Splice_Site_p.T728_splice	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	821					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTGATCTTACCGTGCTGGGTT	0.507000														754			10		0	0	0.013537	0	0
PTPRM	5797	broad.mit.edu	37	18	7774244	7774244	+	Silent	SNP	G	A	A	rs145799313		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr18:7774244G>A	uc002knn.4	+	1	674	c.171G>A	c.(169-171)ccG>ccA	p.P57P	PTPRM_uc010dkv.3_Silent_p.P57P	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	57	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGACTAAACCGACTTCTGATC	0.403000														444			12		0	0	0.024245	0	0
ALOX15B	247	broad.mit.edu	37	17	7942847	7942847	+	Silent	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:7942847G>A	uc002gju.3	+	1	407	c.291G>A	c.(289-291)ccG>ccA	p.P97P	ALOX15B_uc002gjv.3_Silent_p.P97P|ALOX15B_uc002gjw.3_Silent_p.P97P|ALOX15B_uc010vun.2_Silent_p.P97P|ALOX15B_uc010cnp.3_5'UTR	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	97	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGACACCGCCGCGGGGCGGCC	0.746000														29			4		0	0	0.014758	0	0
MEFV	4210	broad.mit.edu	37	16	3299561	3299561	+	Missense_Mutation	SNP	C	T	T	rs144998416		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:3299561C>T	uc002cun.1	-	2	1170	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	MEFV_uc021tbw.1_Missense_Mutation_p.R166H|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	377					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R377H(2)|p.R166H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CTTCAGGTGGCGCTTACACTG	0.647000														244			21		0	0	0.012319	0	0
DFNB59	494513	broad.mit.edu	37	2	179319081	179319081	+	Silent	SNP	G	C	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:179319081G>C	uc002umi.4	+	2	590	c.234G>C	c.(232-234)ctG>ctC	p.L78L	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Silent_p.L78L	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	78					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATCAATTACTGAATTATGAAG	0.299000														328			18		0	0	0.010504	0	0
KALRN	8997	broad.mit.edu	37	3	124103747	124103747	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:124103747C>T	uc003ehg.3	+	10	1947	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M	KALRN_uc010hrv.1_Missense_Mutation_p.T607M|KALRN_uc003ehf.1_Missense_Mutation_p.T607M|KALRN_uc011bjy.1_Missense_Mutation_p.T607M|KALRN_uc003ehh.1_5'UTR	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	607					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTGGCTCAGACGGGGGAATGT	0.577000														384			12		0	0	0.010729	0	0
FOCAD	54914	broad.mit.edu	37	9	20789554	20789554	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:20789554C>T	uc003zog.1	+	12	1765	c.1402C>T	c.(1402-1404)Ctt>Ttt	p.L468F		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	468						integral to membrane	binding										AGGACAAAATCTTCACCAAAT	0.438000														364			31		0	0	0.045705	0	0
NR2F1	7025	broad.mit.edu	37	5	92923762	92923762	+	Silent	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:92923762G>A	uc003kkj.3	+	1	2290	c.603G>A	c.(601-603)tcG>tcA	p.S201S	NR2F1_uc021ybj.1_Silent_p.S150S|NR2F1_uc021ybk.1_Silent_p.S176S	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	201					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACCCCACGTCGCGCTACGGCA	0.667000														393			14		0	0	0.033300	0	0
GLI1	2735	broad.mit.edu	37	12	57861870	57861870	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:57861870G>A	uc001snx.3	+	9	1265	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	GLI1_uc021qzi.1_Missense_Mutation_p.A350T|GLI1_uc009zpq.3_Missense_Mutation_p.A263T	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	391					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGTCCTGACGCCCATGTGAC	0.572000														243			14		0	0	0.028581	0	0
LILRA1	11024	broad.mit.edu	37	19	55106342	55106342	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:55106342C>T	uc002qgh.1	+	3	465	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.R95W	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	95	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACACACAGGGCGGTATCGCTG	0.572000														450			16		0	0	0.043863	0	0
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:184104344T>G	uc003fov.3	+	15	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_uc003fow.3_Missense_Mutation_p.V296G|CHRD_uc003fox.3_Missense_Mutation_p.V666G|CHRD_uc003foy.3_Missense_Mutation_p.V296G|CHRD_uc010hyc.3_Missense_Mutation_p.V256G|CHRD_uc011brr.2_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726000														31			7		0	0	0.010504	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182237	100182237	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:100182237C>T	uc001ygo.3	+	7	784	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	CYP46A1_uc001ygp.3_Missense_Mutation_p.R109W	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	262					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCAGCGCCGCCGGGAAGCCCT	0.657000														248			9		0	0	0.004482	0	0
UBA1	7317	broad.mit.edu	37	X	47058941	47058941	+	Silent	SNP	T	C	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:47058941T>C	uc004dhj.4	+	4	559	c.408T>C	c.(406-408)gcT>gcC	p.A136A	UBA1_uc004dhk.4_Silent_p.A136A	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	136	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCCGCCTCGCTGAGCTCAACA	0.547000														525			18		0	0	0.033300	0	0
FLII	2314	broad.mit.edu	37	17	18154700	18154700	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:18154700G>A	uc002gsr.1	-	12	1526	c.1475C>T	c.(1474-1476)aCg>aTg	p.T492M	FLII_uc002gsq.1_Missense_Mutation_p.T363M|FLII_uc010vxn.1_Missense_Mutation_p.T461M|FLII_uc010vxo.1_Missense_Mutation_p.T437M|FLII_uc002gss.1_Missense_Mutation_p.T491M	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	492					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CACGTCCTCCGTGAAGAACTC	0.652000														513			51		0	0	0.014410	0	0
RNF213	57674	broad.mit.edu	37	17	78321227	78321227	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:78321227G>A	uc002jyh.2	+	29	9382	c.9239G>A	c.(9238-9240)gGt>gAt	p.G3080D	RNF213_uc021uen.1_Missense_Mutation_p.G3031D	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGTGCCGGGTGGAGAGCAG	0.547000														243			20		0	0	0.008871	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43771274	43771274	+	Missense_Mutation	SNP	C	T	T	rs112430320		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:43771274C>T	uc010skx.2	-	31	4889	c.4889G>A	c.(4888-4890)cGg>cAg	p.R1630Q		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1630	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACTATAGGCCGAAGTCGATG	0.413000														162			7		0	0	0.004482	0	0
QKI	9444	broad.mit.edu	37	6	163987788	163987788	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:163987788C>T	uc003qui.3	+	6	1521	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	QKI_uc003quj.3_Missense_Mutation_p.R316C|QKI_uc003quh.3_3'UTR|QKI_uc003que.3_3'UTR|QKI_uc003quf.3_3'UTR|QKI_uc003qug.3_3'UTR	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	324					RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCACGATATGCGTGTCCATCC	0.413000														156			10		0	0	0.008291	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21792810	21792810	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:21792810C>T	uc001wag.3	+	13	1796	c.1796C>T	c.(1795-1797)cCg>cTg	p.P599L	RPGRIP1_uc001wah.3_Missense_Mutation_p.P241L|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.P64L|RPGRIP1_uc001wak.3_Missense_Mutation_p.P74L|RPGRIP1_uc010aim.3_Intron|RPGRIP1_uc001wal.3_Missense_Mutation_p.R8C|RPGRIP1_uc001wam.3_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	599					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCACCCGACCGTTGTCGTTA	0.473000														419			15		0	0	0.028581	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:155887393T>G	uc001fmi.1	-	10	1361	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000														111			12		0	0	0.024245	0	0
CSMD2	114784	broad.mit.edu	37	1	34209014	34209014	+	Silent	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:34209014G>A	uc001bxm.1	-	13	2217	c.2040C>T	c.(2038-2040)gcC>gcT	p.A680A	CSMD2_uc001bxn.1_Silent_p.A640A	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	640	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGGCGCCTCGGCGGTGGCCC	0.612000														401			33		0	0	0.013726	0	0
C12orf40	283461	broad.mit.edu	37	12	40044057	40044057	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:40044057G>C	uc001rmc.3	+	6	754	c.587G>C	c.(586-588)tGt>tCt	p.C196S	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	196										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACTGTTAACTGTTCTGATTCC	0.279000														149			3		0	0	0.004672	0	0
TRIM40	135644	broad.mit.edu	37	6	30104878	30104878	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:30104878A>G	uc003npk.2	+	1	451	c.65A>G	c.(64-66)aAg>aGg	p.K22R	TRIM40_uc003npm.2_Missense_Mutation_p.K22R	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	22						intracellular	zinc ion binding			ovary(1)	1						GAGAGCCTGAAGGAGGCCGTG	0.602000														290			8		0	0	0.038147	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr15:33962623T>G	uc001zhi.3	+	37	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_uc010bar.3_Missense_Mutation_p.V1909G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000														71			24		0	0	0.036044	0	0
FAT3	120114	broad.mit.edu	37	11	92616466	92616466	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:92616466G>A	uc001pdj.4	+	22	12861	c.12844G>A	c.(12844-12846)Gtg>Atg	p.V4282M	FAT3_uc001pdi.4_Missense_Mutation_p.V722M	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4282					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGCGTGGTCGTGTGCAGTGT	0.657000										TCGA Ovarian(4;0.039)				333			19		0	0	0.043863	0	0
HFM1	164045	broad.mit.edu	37	1	91851171	91851171	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:91851171G>T	uc001doa.4	-	4	814	c.715C>A	c.(715-717)Cca>Aca	p.P239T	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.P239T	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	239							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GAAAAAGATGGTGCTTTGAAC	0.338000														272			9		0.000442599	0.000455746	0.006214	1	0
C11orf63	79864	broad.mit.edu	37	11	122805736	122805736	+	Silent	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:122805736C>T	uc001pym.3	+	4	1884	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	529										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGAAACAACTCAAACAGCCTT	0.368000														324			33		0	0	0.013726	0	0
SRRM2	23524	broad.mit.edu	37	16	2817974	2817974	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:2817974C>T	uc002crk.3	+	10	7994	c.7445C>T	c.(7444-7446)aCg>aTg	p.T2482M	SRRM2_uc002crj.1_Missense_Mutation_p.T2386M|SRRM2_uc002crl.1_Missense_Mutation_p.T2482M|SRRM2_uc010bsu.1_Missense_Mutation_p.T2386M	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2482	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding	p.T2482T(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAGTGGCAACGACCACGTCC	0.602000														333			12		0	0	0.013537	0	0
DNAJC3	5611	broad.mit.edu	37	13	96416004	96416004	+	Splice_Site	SNP	T	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr13:96416004T>A	uc001vmq.3	+	8	1071	c.954_splice	c.e8+2	p.K318_splice		NM_006260	NP_006251	Q13217	DNJC3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 3 (DNAJC3), mRNA.	318					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			TTTTCTAAGGTAACAGTTGAC	0.398000														421			56		0	0	0.014410	0	0
DDX12P	440081	broad.mit.edu	37	12	9571764	9571764	+	Missense_Mutation	SNP	T	G	G	rs117821635	by1000genomes	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:9571764T>G	uc001qvy.1	-	2	209	c.146A>C	c.(145-147)cAc>cCc	p.H49P	DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.T826T(1)									CTTCCCTGGGTGTGCCTGGCC	0.642000														25			5		0	0	0.014758	0	0
BX647938	0	broad.mit.edu	37	12	9713413	9713413	+	Splice_Site	SNP	A	G	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:9713413A>G	uc001qwb.1	+	5		c.608_splice	c.e5-1							Homo sapiens mRNA; cDNA DKFZp686A1124 (from clone DKFZp686A1124).																		TGTATTACAGACTCAGTGCTC	0.358000														9			2		0	0	0.009096	0	0
CPEB1	64506	broad.mit.edu	37	15	83226611	83226611	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr15:83226611G>A	uc002bit.3	-	3	822	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	CPEB1_uc002bir.3_Missense_Mutation_p.R94C|CPEB1_uc002bis.3_Missense_Mutation_p.R94C|CPEB1_uc010uod.2_Intron|CPEB1_uc002biq.3_Missense_Mutation_p.R94C|CPEB1_uc010uoe.2_Missense_Mutation_p.R172C|CPEB1_uc002biu.3_Missense_Mutation_p.R196C|CPEB1_uc010uof.2_Missense_Mutation_p.R94C|CPEB1_uc002biv.3_Missense_Mutation_p.R169C|CPEB1_uc002bip.3_5'Flank	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	169					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTGTCCAGGCGTGATCCTCTA	0.552000														327			12		0	0	0.010729	0	0
FBXW11	23291	broad.mit.edu	37	5	171303381	171303381	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:171303381G>A	uc003mbm.1	-	7	1437	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	FBXW11_uc011dey.1_Missense_Mutation_p.R324C|FBXW11_uc003mbl.1_Missense_Mutation_p.R343C|FBXW11_uc003mbn.1_Missense_Mutation_p.R322C	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	356					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity	p.R356H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGACACGGCGTAAAGTGATG	0.522000														131			4		0	0	0.009096	0	0
ADNP2	22850	broad.mit.edu	37	18	77896690	77896690	+	Nonstop_Mutation	SNP	T	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr18:77896690T>A	uc002lnw.3	+	3	3849	c.3394T>A	c.(3394-3396)Taa>Aaa	p.*1132K		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	0					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATATGAACCATAAAACTTGCA	0.303000														44			11		0	0	0.024245	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91961	91961	+	RNA	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrGL000211.1:91961C>T	uc003bnz.1	+	6		c.1317C>T			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTATAGATTTCCATTATTGTC	0.308000														71			4		0	0	0.029380	0	0
KDM6A	7403	broad.mit.edu	37	X	44936003	44936003	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:44936003A>T	uc011mkz.2	+	18	3295	c.2920A>T	c.(2920-2922)Aga>Tga	p.R974*	KDM6A_uc022bvi.1_Nonsense_Mutation_p.R592*|KDM6A_uc010nhk.2_Nonsense_Mutation_p.R888*|KDM6A_uc004dge.4_Nonsense_Mutation_p.R922*|KDM6A_uc011mla.2_Nonsense_Mutation_p.R877*|KDM6A_uc011mlb.2_Nonsense_Mutation_p.R929*|KDM6A_uc011mlc.2_Nonsense_Mutation_p.R626*|KDM6A_uc022bvj.1_Nonsense_Mutation_p.R843*|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Nonsense_Mutation_p.R561*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	922					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCCACCTCCAAGACCACCATC	0.373000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""									445			21		0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179569272	179569272	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:179569272C>T	uc021vsy.1	-	101	26420	c.26195G>A	c.(26194-26196)gGt>gAt	p.G8732D	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5393D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9659	Ig-like 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTGTGGACCACAAACCAA	0.383000														185			8		0	0	0.038147	0	0
GPR68	8111	broad.mit.edu	37	14	91700906	91700906	+	Silent	SNP	G	A	A	rs145413696		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:91700906G>A	uc021ryk.1	-	0	489	c.489C>T	c.(487-489)atC>atT	p.I163I	GPR68_uc001xzg.3_Silent_p.I163I|GPR68_uc001xzh.3_Silent_p.I163I	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	163					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TCTCGTCCTCGATGACCTCCT	0.617000														138			9		0	0	0.008291	0	0
NCOA6	23054	broad.mit.edu	37	20	33324555	33324555	+	Silent	SNP	C	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:33324555C>A	uc002xav.3	-	12	8472	c.5901G>T	c.(5899-5901)tcG>tcT	p.S1967S	NCOA6_uc002xaw.3_Silent_p.S1967S|NCOA6_uc021wcd.1_Silent_p.S974S	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1967	EP300/CRSP3-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTAAATTCTGCGACGGGGCTA	0.418000														181			19		3.99206e-14	4.41674e-14	0.043863	1	0
ANO3	63982	broad.mit.edu	37	11	26619970	26619970	+	Missense_Mutation	SNP	C	A	A	rs141900098		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:26619970C>A	uc001mqt.4	+	14	1651	c.1506C>A	c.(1504-1506)gaC>gaA	p.D502E	ANO3_uc010rdr.2_Missense_Mutation_p.D486E|ANO3_uc010rds.2_Missense_Mutation_p.D341E|ANO3_uc010rdt.2_Missense_Mutation_p.D356E	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	502						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATACTTGGGACCTTATCGAAT	0.388000														415			22		4.26978e-12	4.67428e-12	0.018920	1	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	T	T	rs28934576	by1000genomes	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				145			17		0	0	0.028581	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249463	119249463	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:119249463G>A	uc004esk.1	-	0	385	c.310C>T	c.(310-312)Cga>Tga	p.R104*	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	104					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P103>?(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						CGCCGAGTTCGTGGCTGCATG	0.652000														516			40		0	0	0.033182	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				125			12		0	0	0.020292	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415655	19415655	+	RNA	SNP	C	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr13:19415655C>A	uc010tcj.1	-	0		c.30455G>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ccaaacaaaacaaaaCAAAAC	0.398000														167			15		6.50621e-10	7.0484e-10	0.013726	1	0
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:7838212_7838214delTCA	uc001aol.3	+	3	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del		NM_004781	NP_004772	Q15836	VAMP3_HUMAN	Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.	94					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365													---	1057	---	---	9	---					
WDR78	79819	broad.mit.edu	37	1	67390426	67390426	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:67390426delT	uc001dcx.3	-	0	145	c.89delA	c.(88-90)aagfs	p.K30fs	WDR78_uc001dcy.3_Frame_Shift_Del_p.K30fs|MIER1_uc001dda.4_5'Flank|MIER1_uc010opf.1_5'Flank|MIER1_uc009way.2_5'Flank|MIER1_uc010opg.1_5'Flank|MIER1_uc001ddf.2_5'Flank|MIER1_uc001ddc.2_5'Flank|MIER1_uc001ddg.2_5'Flank|MIER1_uc001ddh.2_5'Flank|MIER1_uc001dde.2_5'Flank	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	30										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCACCACCCCTTTTTTTGGCC	0.622													---	819	---	---	10	---					
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:26693554_26693556delCTT	uc002rhk.3	-	31	4055_4057	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_uc010yla.2_In_Frame_Del_p.K40del|OTOF_uc002rhh.3_In_Frame_Del_p.K543del|OTOF_uc002rhi.3_In_Frame_Del_p.K620del|OTOF_uc002rhj.3_In_Frame_Del_p.K543del	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1310	Poly-Lys.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576													---	457	---	---	8	---					
GAD1	2571	broad.mit.edu	37	2	171702549	171702549	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:171702549delA	uc002ugi.3	+	9	1400	c.978delA	c.(976-978)gcafs	p.A326fs		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	326					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATTTTGAGGCAAAAATTCTTG	0.353													---	476	---	---	7	---					
P2RY13	53829	broad.mit.edu	37	3	151046142	151046142	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:151046142delT	uc003eyv.2	-	1	723	c.702delA	c.(700-702)aaafs	p.K234fs	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA.	234						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AATCATATACTTTTTTTGCAA	0.338													---	375	---	---	7	---					
SCLT1	132320	broad.mit.edu	37	4	129864162	129864163	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr4:129864162_129864163insT	uc003igp.2	-	16	2126_2127	c.1620_1621insA	c.(1618-1623)aaagccfs	p.K540fs	SCLT1_uc003ign.2_Frame_Shift_Ins_p.K204fs|SCLT1_uc003igo.2_Frame_Shift_Ins_p.K150fs|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTACTTTGGCTTTTTTTTGAG	0.356													---	650	---	---	7	---					
PRRC2A	7916	broad.mit.edu	37	6	31597456	31597457	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:31597456_31597457insC	uc003nvb.4	+	13	2337_2338	c.2088_2089insC	c.(2086-2091)ccacccfs	p.P696fs	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Frame_Shift_Ins_p.P696fs	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	696	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACAGGCTCCACCCCCGCCCCC	0.649													---	153	---	---	8	---					
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Translation_Start_Site	INS	-	GCCGCC	GCCGCC			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr7:103629803_103629804insGCCGCC	uc022ajr.1	-	0					RELN_uc022ajq.1_Start_Codon_Ins|RELN_uc010liz.3_Start_Codon_Ins	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723													---	48	---	---	10	---					
FGFR1	2260	broad.mit.edu	37	8	38285914	38285916	+	In_Frame_Del	DEL	TCA	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:38285914_38285916delTCA	uc022aua.1	-	3	1338_1340	c.396_398delTGA	c.(394-399)gatgac>gac	p.132_133DD>D	FGFR1_uc011lbu.2_In_Frame_Del_p.165_166DD>D|FGFR1_uc011lbv.2_In_Frame_Del_p.132_133DD>D|FGFR1_uc011lbw.2_In_Frame_Del_p.43_44DD>D|FGFR1_uc003xlp.3_In_Frame_Del_p.132_133DD>D|FGFR1_uc022aub.1_In_Frame_Del_p.132_133DD>D|FGFR1_uc022auc.1_In_Frame_Del_p.43_44DD>D|FGFR1_uc022aud.1_In_Frame_Del_p.43_44DD>D|FGFR1_uc010lwk.3_In_Frame_Del_p.124_125DD>D|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_5'UTR|FGFR1_uc011lbt.1_In_Frame_Del_p.43_44DD>D|FGFR1_uc011lbx.1_In_Frame_Del_p.43_44DD>D|FGFR1_uc003xlv.3_In_Frame_Del_p.43_44DD>D|FGFR1_uc003xlu.3_In_Frame_Del_p.43_44DD>D|FGFR1_uc003xlw.1_Non-coding_Transcript	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	132					MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.D133N(4)|p.D44N(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGAAGAGGAGtcatcatcatcat	0.498		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						---	133	---	---	7	---					
C8orf59	401466	broad.mit.edu	37	8	86129664	86129664	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:86129664delT	uc022awy.1	-	2	305	c.65delA	c.(64-66)aacfs	p.N22fs	C8orf59_uc022awz.1_Frame_Shift_Del_p.N22fs|C8orf59_uc022axa.1_Frame_Shift_Del_p.N22fs|C8orf59_uc022axb.1_Frame_Shift_Del_p.N22fs|C8orf59_uc011lfu.2_Non-coding_Transcript	NM_001099670	NP_001093143	Q8N0T1	CH059_HUMAN	Homo sapiens chromosome 8 open reading frame 59 (C8orf59), transcript variant 1, mRNA.	22																	AGCCTTAAAGTTTTTTTGGCT	0.343													---	891	---	---	9	---					
EIF2C2	27161	broad.mit.edu	37	8	141554345	141554345	+	Frame_Shift_Del	DEL	G	-	-	rs148575703	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:141554345delG	uc003yvn.3	-	13	1847	c.1806delC	c.(1804-1806)cccfs	p.P602fs	EIF2C2_uc010meo.3_Frame_Shift_Del_p.P602fs|EIF2C2_uc010men.3_Frame_Shift_Del_p.P525fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	602	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CATCCCCGGCGGGGGGGTGAG	0.647													---	998	---	---	8	---					
BC080605	0	broad.mit.edu	37	9	68414118	68414118	+	RNA	DEL	G	-	-	rs71221469		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:68414118delG	uc004aex.3	+	0		c.673delG								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		GCTCACGAAAGCCCCCTGTGG	0.667													---	120	---	---	8	---					
CEL	1056	broad.mit.edu	37	9	135946954	135946955	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:135946954_135946955insC	uc010naa.1	+	10	2090_2091	c.2074_2075insC	c.(2074-2076)gccfs	p.A692fs		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	689	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	p.A692P(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCCGGCGCCCCCCCCGTG	0.842													---	8	---	---	4	---					
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr10:24822125_24822127delGAA	uc001iru.4	+	15	3776_3778	c.3373_3375delGAA	c.(3373-3375)gaadel	p.E1129del	KIAA1217_uc001irs.3_In_Frame_Del_p.E1049del|KIAA1217_uc001irt.4_In_Frame_Del_p.E1094del|KIAA1217_uc010qcy.2_In_Frame_Del_p.E1093del|KIAA1217_uc010qcz.2_In_Frame_Del_p.E1094del|KIAA1217_uc001irw.3_In_Frame_Del_p.E812del|KIAA1217_uc001irz.3_In_Frame_Del_p.E812del|KIAA1217_uc001irx.3_In_Frame_Del_p.E812del|KIAA1217_uc001iry.3_In_Frame_Del_p.E812del	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1129					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552													---	293	---	---	8	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr10:98336475delT	uc001kmm.4	-	1	431	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													---	795	---	---	7	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493647	77493648	+	In_Frame_Ins	INS	-	GCG	GCG	rs61991619		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:77493647_77493648insGCG	uc001xsy.3	-	0	1387_1388	c.488_489insCGC	c.(487-489)gct>gcCGCt	p.163_163A>AA		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein-like (IRF2BPL), mRNA.	163	Poly-Ala.					nucleus		p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTTCCACCgcagcggcggcggc	0.748													---	58	---	---	9	---					
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr15:45710840_45710841insT	uc001zve.3	+	6	2163_2164	c.2054_2055insT	c.(2053-2055)tgtfs	p.C685fs	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	685						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361													---	451	---	---	7	---					
KRT12	3859	broad.mit.edu	37	17	39022893	39022894	+	Frame_Shift_Ins	INS	-	AGTG	AGTG			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:39022893_39022894insAGTG	uc002hvk.2	-	0	569_570	c.545_546insCACT	c.(544-546)ctgfs	p.L182fs		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	182	Linker 1.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GGTCTTCAATCAGTGGATAATA	0.371													---	855	---	---	25	---					
C18orf34	374864	broad.mit.edu	37	18	30913143	30913143	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr18:30913143delT	uc010xbr.1	-	8	1016	c.874delA	c.(874-876)atgfs	p.M292fs	C18orf34_uc002kxn.2_Frame_Shift_Del_p.M292fs|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Frame_Shift_Del_p.M292fs|C18orf34_uc002kxp.3_Frame_Shift_Del_p.M292fs	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	292								p.M292fs*3(3)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TTTACCTCCATTTTTTTTTTA	0.318													---	286	---	---	8	---					
PLAUR	5329	broad.mit.edu	37	19	44174235	44174237	+	In_Frame_Del	DEL	AGC	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:44174235_44174237delAGC	uc002oxf.2	-	0	262_264	c.36_38delGCT	c.(34-39)ctgctc>ctc	p.12_13LL>L	PLAUR_uc002oxd.2_In_Frame_Del_p.12_13LL>L|PLAUR_uc002oxg.2_In_Frame_Del_p.12_13LL>L	NM_002659	NP_002650	Q03405	UPAR_HUMAN	Homo sapiens plasminogen activator, urokinase receptor (PLAUR), transcript variant 1, mRNA.	12					C-terminal protein lipidation|attachment of GPI anchor to protein|blood coagulation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	U-plasminogen activator receptor activity|enzyme binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.660													---	546	---	---	7	---					
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr21:10944697delA	uc002yip.1	-	10	905	c.537delT	c.(535-537)tttfs	p.F179fs	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Frame_Shift_Del_p.F161fs|TPTE_uc002yir.1_Frame_Shift_Del_p.F141fs|TPTE_uc010gkv.1_Frame_Shift_Del_p.F41fs	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	179					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTAATGTCAAAAAAAATGT	0.299													---	1239	---	---	13	---					
SSX8	280659	broad.mit.edu	37	X	52662823	52662824	+	RNA	DEL	AC	-	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:52662823_52662824delAC	uc011mob.1	+	7		c.1272_1273delAC								Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		acaccacacaacacacacacac	0.480													---	3	---	---	4	---					
FAM155B	27112	broad.mit.edu	37	X	68725671	68725672	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:68725671_68725672insA	uc004dxk.3	+	0	594_595	c.546_547insA	c.(544-549)gccaaafs	p.A182fs		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	182						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TCCCCTCCGCCAAAAAAAACTT	0.589													---	344	---	---	8	---					
