Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MFHAS1	9258	broad.mit.edu	37	8	8643536	8643536	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr8:8643536T>C	uc003wsj.1	-	2	3718	c.3155A>G	c.(3154-3156)cAg>cGg	p.Q1052R		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	1052										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAAACGTCACTGGTTTCTGTG	0.473000													10	93					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114400219	114400219	+	Splice_Site	SNP	T	T	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr12:114400219T>C	uc009zwi.2	-	2	181	c.37_splice	c.e2-1	p.M13_splice	RBM19_uc001tvn.4_Splice_Site_p.M13_splice|RBM19_uc001tvm.3_Splice_Site_p.M13_splice	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	13	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCTCCTTCATCTAGGACAGA	0.537000													73	35					0	0	1	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345489	24345489	+	RNA	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr19:24345489C>T	uc010edb.1	-	0		c.761G>A								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		TTCCAAAGGCCATCTGAAGAC	0.453000													3	67					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670380	95670380	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr14:95670380G>A	uc001yef.2	-	8	1422	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	436						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTGCAGAAAGGATCCTTGTAG	0.478000													58	39					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32205741	32205741	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr1:32205741T>G	uc001btn.3	-	12	2382	c.2028A>C	c.(2026-2028)gaA>gaC	p.E676D	BAI2_uc010ogo.2_Missense_Mutation_p.E318D|BAI2_uc010ogp.2_Missense_Mutation_p.E609D|BAI2_uc010ogq.2_Missense_Mutation_p.E676D|BAI2_uc001bto.3_Missense_Mutation_p.E676D|BAI2_uc001btq.1_Missense_Mutation_p.E609D|BAI2_uc010ogr.1_Intron	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	676					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCTCCTTGTTTTCCGCATCCA	0.612000													41	86					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59308047	59308047	+	Splice_Site	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr12:59308047C>T	uc001sqr.3	-	2	554	c.308_splice	c.e2+1	p.V103_splice	LRIG3_uc009zqh.3_Splice_Site_p.V43_splice|LRIG3_uc010ssh.2_Splice_Site	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	103						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AAGACTCACACTTCTCGAAGG	0.323000			T	ROS1	NSCLC								9	47					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56627039	56627039	+	Missense_Mutation	SNP	A	A	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr3:56627039A>C	uc003dhz.3	+	7	1065	c.978A>C	c.(976-978)caA>caC	p.Q326H	CCDC66_uc003dhy.3_5'UTR|CCDC66_uc003dhu.3_Missense_Mutation_p.Q292H|CCDC66_uc003dhx.3_Non-coding_Transcript	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	326										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTGTGAAACAAGAACTGCAAA	0.333000													20	28					0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103789497	103789497	+	Silent	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr10:103789497C>T	uc009xwy.1	-	4	414	c.312G>A	c.(310-312)ctG>ctA	p.L104L	C10orf76_uc001kui.3_Silent_p.L104L	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	104						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TGAGTGCGCACAGGGTCTGCA	0.473000													8	28					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71376396	71376396	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr2:71376396C>T	uc002sht.2	+	9	2061	c.1709C>T	c.(1708-1710)aCa>aTa	p.T570I		NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	570					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GCTGAAAAAACAGCTACAGAC	0.333000													7	58					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75884802	75884802	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr6:75884802C>T	uc021zbv.1	-	11	2697	c.2662G>A	c.(2662-2664)Gcg>Acg	p.A888T	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.A888T|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	888	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCCCCAGACGCATACAAGGCT	0.478000													83	130					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7816984	7816984	+	Silent	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr5:7816984C>T	uc003jdz.1	+	22	2956	c.2889C>T	c.(2887-2889)ccC>ccT	p.P963P	ADCY2_uc011cmo.1_Silent_p.P783P|ADCY2_uc010itm.1_Silent_p.P159P	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	963					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTCAGGAGCCCGAGCGGCAGT	0.502000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	143					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116397543	116397543	+	Missense_Mutation	SNP	A	A	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr7:116397543A>C	uc003vij.3	+	6	2102	c.1915A>C	c.(1915-1917)Att>Ctt	p.I639L	MET_uc022akk.1_Missense_Mutation_p.I639L|MET_uc010lkh.3_Missense_Mutation_p.I639L|MET_uc011knd.2_Missense_Mutation_p.I639L|MET_uc011knf.2_Missense_Mutation_p.I639L|MET_uc011kne.2_Missense_Mutation_p.I611L|MET_uc011kng.1_Missense_Mutation_p.I639L|MET_uc011knh.1_Missense_Mutation_p.I639L|MET_uc011kni.2_Missense_Mutation_p.I639L|MET_uc011knj.2_Missense_Mutation_p.I209L	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	639	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TATGTCCATAATTATTTCAAA	0.323000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				26	32					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	T	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000													4	59					0	0	1	0	0
RNF14	9604	broad.mit.edu	37	5	141357939	141357939	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr5:141357939G>T	uc003llz.3	+	4	626	c.378G>T	c.(376-378)tgG>tgT	p.W126C	RNF14_uc003lly.3_Missense_Mutation_p.W126C|RNF14_uc003lma.3_Missense_Mutation_p.W126C|RNF14_uc003lmb.3_5'UTR|RNF14_uc003lmc.3_Missense_Mutation_p.W126C|RNF14_uc011dbg.2_Intron|RNF14_uc011dbh.2_Intron|RNF14_uc003lmd.3_Missense_Mutation_p.W126C	NM_001201365	NP_001188294	Q9UBS8	RNF14_HUMAN	Homo sapiens ring finger protein 14 (RNF14), transcript variant 6, mRNA.	126	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGTTTGCCTGGATGCAATTTC	0.448000													60	141					1.31726e-23	1.48723e-23	1	1	0
GLG1	2734	broad.mit.edu	37	16	74505165	74505165	+	Missense_Mutation	SNP	A	A	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr16:74505165A>C	uc002fcx.3	-	14	2185	c.2135T>G	c.(2134-2136)aTa>aGa	p.I712R	GLG1_uc002fcw.4_Missense_Mutation_p.I701R|GLG1_uc002fcy.4_Missense_Mutation_p.I712R|GLG1_uc002fcz.4_Missense_Mutation_p.I129R	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	712						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCCAGAGTCTATCTGGTTATC	0.458000													41	134					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51584905	51584905	+	Silent	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr19:51584905G>T	uc021uyk.1	-	3	363	c.144C>A	c.(142-144)acC>acA	p.T48T	KLK14_uc002pvs.1_Silent_p.T48T	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	48	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	p.R48R(1)		kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GGGAGCTCCGGGTGCACGTAT	0.617000													3	73					0.115264	0.115264	1	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54905823	54905823	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr12:54905823C>A	uc001sgc.4	+	8	954	c.875C>A	c.(874-876)aCc>aAc	p.T292N	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.T242N	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	292					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTCTACATCACCCTTATCCGT	0.522000													66	329					1.59627e-33	1.86231e-33	1	1	0
OR2T3	343173	broad.mit.edu	37	1	248637175	248637175	+	Missense_Mutation	SNP	A	A	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr1:248637175A>C	uc001iel.1	+	0	524	c.524A>C	c.(523-525)cAg>cCg	p.Q175P		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTTTGCCAGTCTAGGAAA	0.527000													69	110					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81094972	81094972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr16:81094972G>A	uc002fgc.4	-	3	1241	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	C16orf46_uc010chf.3_Nonsense_Mutation_p.Q328*|C16orf46_uc010vno.2_Nonsense_Mutation_p.Q55*	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	328										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CCCCGTTTCTGCAGAAGCTGC	0.552000													70	186					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212248449	212248449	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr2:212248449C>T	uc002veg.1	-	27	3916	c.3818G>A	c.(3817-3819)cGg>cAg	p.R1273Q	ERBB4_uc002veh.1_Missense_Mutation_p.R1257Q|ERBB4_uc010zji.1_Missense_Mutation_p.R1263Q|ERBB4_uc010zjj.1_Missense_Mutation_p.R1247Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1273					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGGCCGGATCCGCCCATTCTG	0.532000										TSP Lung(8;0.080)			94	70					0	0	1	0	0
COPG2	26958	broad.mit.edu	37	7	130337745	130337745	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr7:130337745G>C	uc003vqh.1	-	4	377	c.287C>G	c.(286-288)gCt>gGt	p.A96G		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	96					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					AGAGATGGTAGCCATTTCTTT	0.318000													16	42					0	0	1	0	0
C9orf89	84270	broad.mit.edu	37	9	95874554	95874554	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr9:95874554T>G	uc004atd.3	+	4	597	c.419T>G	c.(418-420)cTg>cGg	p.L140R	C9orf89_uc004atf.3_Non-coding_Transcript	NM_032310	NP_115686	Q96LW7	BINCA_HUMAN	Homo sapiens chromosome 9 open reading frame 89 (C9orf89), mRNA.	145					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GCCCTGCTCCTGTACTGCTAT	0.672000													17	27					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59082699	59082699	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr19:59082699C>T	uc002qto.3	-	1	619	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Missense_Mutation_p.V20I|MZF1_uc010euu.1_Missense_Mutation_p.V61I	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	20					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TTCACCATGACAGGCCCCTCA	0.627000													31	61					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117310107	117310107	+	Missense_Mutation	SNP	C	C	T	rs61730454	byFrequency	TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr11:117310107C>T	uc001prh.1	-	22	4201	c.4199G>A	c.(4198-4200)cGg>cAg	p.R1400Q		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1340	Fibronectin type-III 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.R1400L(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGATGAGCCGGTGCCCATC	0.622000													3	69					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37307409	37307409	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr5:37307409A>G	uc003jku.1	-	24	3011	c.2893T>C	c.(2893-2895)Ttc>Ctc	p.F965L	NUP155_uc003jkt.1_Missense_Mutation_p.F906L|NUP155_uc010iuz.1_Missense_Mutation_p.F901L	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	965					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTTCTTGGAAGGCCTGAAGT	0.358000													47	68					0	0	1	0	0
GUSBP11	91316	broad.mit.edu	37	22	24057311	24057311	+	RNA	SNP	T	T	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr22:24057311T>C	uc011aiz.2	-	1		c.464A>G			GUSBP11_uc010gub.1_Non-coding_Transcript					Homo sapiens glucuronidase, beta pseudogene 11 (GUSBP11), non-coding RNA.																		GCTGACAAAATGCCGCAGCCG	0.622000													37	52					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104173630	104173630	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr10:104173630C>A	uc001kvg.1	-	4	1976	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	PSD_uc001kvh.1_Missense_Mutation_p.E104D|PSD_uc009xxd.1_Missense_Mutation_p.E483D	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	483	Poly-Glu.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCTCCTCCTCCTCCCCTCTCT	0.677000													39	76					1.06522e-23	1.22238e-23	1	1	0
CNKSR3	154043	broad.mit.edu	37	6	154732110	154732110	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr6:154732110T>C	uc021zhc.1	-	10	1742	c.1237A>G	c.(1237-1239)Aac>Gac	p.N413D	CNKSR3_uc021zhd.1_5'UTR|CNKSR3_uc021zhe.1_5'UTR|CNKSR3_uc003qpy.3_Missense_Mutation_p.N413D	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	413	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGCAGAATGTTGGTTTCCACC	0.502000													46	77					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90030138	90030138	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr15:90030138G>A	uc002bnz.2	-	1	287	c.263C>T	c.(262-264)gCc>gTc	p.A88V	RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_5'UTR	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	88					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GAAGCCCACGGCGCTGAAGCC	0.622000													120	140					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75968209	75968209	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr15:75968209G>C	uc002baw.3	-	9	6744	c.6651C>G	c.(6649-6651)ttC>ttG	p.F2217L		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	2217	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGGCCTCAAGGAAGCTCAGGA	0.622000													20	26					0	0	1	0	0
C9orf89	84270	broad.mit.edu	37	9	95874555	95874555	+	Silent	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr9:95874555G>T	uc004atd.3	+	4	598	c.420G>T	c.(418-420)ctG>ctT	p.L140L	C9orf89_uc004atf.3_Non-coding_Transcript	NM_032310	NP_115686	Q96LW7	BINCA_HUMAN	Homo sapiens chromosome 9 open reading frame 89 (C9orf89), mRNA.	145					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CCCTGCTCCTGTACTGCTATC	0.667000													17	27					1.28384e-07	1.3216e-07	1	1	0
INPPL1	3636	broad.mit.edu	37	11	71944164	71944164	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr11:71944164G>T	uc001osf.3	+	16	2144	c.1997G>T	c.(1996-1998)gGt>gTt	p.G666V	INPPL1_uc001osg.3_Missense_Mutation_p.G424V	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	666					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TATGAGCGGGGTTCCCGGGAC	0.602000													53	69					3.00063e-23	3.33403e-23	1	1	0
URB1	9875	broad.mit.edu	37	21	33727865	33727865	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr21:33727865C>A	uc002ypn.2	-	15	2092	c.1999G>T	c.(1999-2001)Gac>Tac	p.D667Y		NM_014825	NP_055640	O60287	NPA1P_HUMAN	Homo sapiens URB1 ribosome biogenesis 1 homolog (S. cerevisiae) (URB1), mRNA.	667						nucleolus	protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						ACCCCCGTGTCCCGCAGAATC	0.517000													25	10					8.58068e-18	9.38512e-18	1	1	0
GEMIN5	25929	broad.mit.edu	37	5	154278113	154278113	+	Missense_Mutation	SNP	C	C	T	rs144363013		TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr5:154278113C>T	uc003lvx.3	-	22	3315	c.3232G>A	c.(3232-3234)Gta>Ata	p.V1078I	GEMIN5_uc011ddk.1_Missense_Mutation_p.V1077I	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1078					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCTCTCCTACGATGGCAGCC	0.552000													60	115					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35471606	35471606	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr6:35471606G>C	uc003okv.4	-	11	1144	c.1132C>G	c.(1132-1134)Cgc>Ggc	p.R378G	TULP1_uc003okw.4_Missense_Mutation_p.R325G|TULP1_uc021yyx.1_Missense_Mutation_p.R378G	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	378			R -> H (in RP14).		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						ACCGTGAAGCGGTTCCCCAGG	0.607000													14	20					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401754	140401754	+	Silent	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr3:140401754G>A	uc003eto.2	+	1	998	c.792G>A	c.(790-792)aaG>aaA	p.K264K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	264						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACTGCCTCAAGGCCTTCCACT	0.617000													83	124					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206921631	206921631	+	Silent	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr2:206921631G>A	uc002vaz.4	-	3	660	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	85					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTTTTTTCGGGATAAAGCCAA	0.408000													46	55					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15968952	15968952	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr17:15968952G>T	uc002gpo.3	-	32	5067	c.4798C>A	c.(4798-4800)Cag>Aag	p.Q1600K	NCOR1_uc002gpn.3_Missense_Mutation_p.Q1616K|NCOR1_uc002gpm.3_Missense_Mutation_p.Q120K|NCOR1_uc010vwb.2_Missense_Mutation_p.Q184K|NCOR1_uc010coy.3_Missense_Mutation_p.Q508K|NCOR1_uc010vwc.2_Missense_Mutation_p.Q410K	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1600	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGCTGATACTGACTTGGGTAA	0.453000													51	149					2.37532e-16	2.55804e-16	1	1	0
PAM	5066	broad.mit.edu	37	5	102237063	102237063	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr5:102237063G>A	uc003knt.3	+	2	587	c.214G>A	c.(214-216)Gat>Aat	p.D72N	PAM_uc003knw.3_Missense_Mutation_p.D72N|PAM_uc003kns.3_Missense_Mutation_p.D72N|PAM_uc003knu.3_Missense_Mutation_p.D72N|PAM_uc011cuz.2_Intron|PAM_uc003knv.3_Missense_Mutation_p.D72N	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	72	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTAATAGTCCGATACATACTT	0.353000													3	45					0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76532433	76532433	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr4:76532433G>A	uc011cbp.2	-	3	1001	c.476C>T	c.(475-477)aCt>aTt	p.T159I	CDKL2_uc003hiq.3_Missense_Mutation_p.T159I|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	159	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CACATAATCAGTATAAACCTC	0.443000													32	59					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240999	126240999	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr4:126240999G>A	uc003ifj.4	+	0	3433	c.3433G>A	c.(3433-3435)Gat>Aat	p.D1145N		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1145	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTGCAGCCAGATTTTGAGTT	0.453000													22	55					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102563689	102563689	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr11:102563689T>G	uc001phd.1	-	8	1300	c.1277A>C	c.(1276-1278)gAt>gCt	p.D426A		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	426	Hemopexin-like 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GAAAGCAGCATCAACACGGAT	0.413000													34	77					0	0	1	0	0
STUB1	10273	broad.mit.edu	37	16	732019	732019	+	Splice_Site	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr16:732019G>T	uc002cit.3	+	5	1024	c.613_splice	c.e5-1	p.D205_splice	STUB1_uc002ciu.3_Splice_Site_p.D133_splice|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	Homo sapiens STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1), mRNA.	205					DNA repair|cellular response to misfolded protein|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein autoubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|SMAD binding|TPR domain binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				ACTCTTCACAGGACAAGTACA	0.592000													127	96					4.00265e-47	4.83079e-47	1	1	0
TAB1	10454	broad.mit.edu	37	22	39814795	39814795	+	Silent	SNP	G	G	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr22:39814795G>A	uc003axt.3	+	5	658	c.609G>A	c.(607-609)ctG>ctA	p.L203L	TAB1_uc003axr.3_Silent_p.L279L|TAB1_uc011aok.2_Silent_p.L37L|TAB1_uc003axu.1_Silent_p.L203L	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	203	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGACACAGCTGAACGTGGACC	0.537000													54	85					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114400220	114400220	+	Splice_Site	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr12:114400220C>T	uc009zwi.2	-	2	181	c.37_splice	c.e2-1	p.M13_splice	RBM19_uc001tvn.4_Splice_Site_p.M13_splice|RBM19_uc001tvm.3_Splice_Site_p.M13_splice	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	13	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCTCCTTCATCTAGGACAGAG	0.542000													72	33					0	0	1	0	0
CCDC3	83643	broad.mit.edu	37	10	13043327	13043327	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr10:13043327G>T	uc001ilq.1	-	0	378	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	CCDC3_uc009xjb.1_Intron|CCDC3_uc001ilr.2_Intron|CCDC3_uc009xjc.1_Intron	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	82						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TGGTCGCACAGCATCTCGACC	0.706000													23	30					7.92952e-12	8.28458e-12	1	1	0
KCNJ18	100134444	broad.mit.edu	37	17	21318895	21318895	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr17:21318895C>T	uc021tss.1	+	2	611	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	KCNJ18_uc002gyv.1_Missense_Mutation_p.R81W|KCNJ18_uc021tst.1_Missense_Mutation_p.R81W	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	81						integral to membrane	inward rectifier potassium channel activity	p.R81G(1)									CATCCGCTGGCGGTACATGCT	0.577000													18	228					0	0	1	0	0
WDR54	84058	broad.mit.edu	37	2	74651108	74651108	+	Splice_Site	SNP	A	A	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr2:74651108A>G	uc002slb.3	+	6	594	c.534_splice	c.e6+1	p.Q178_splice		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	Homo sapiens WD repeat domain 54 (WDR54), mRNA.	178										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GCCCAGGGACAGGTGAGTGGA	0.597000													23	90					0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54382989	54382989	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr12:54382989T>C	uc001sen.3	+	1	886	c.788T>C	c.(787-789)cTg>cCg	p.L263P	MIR196A2_uc001seo.2_5'Flank	NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	263					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GGAAATTGGCTGACAGCAAAG	0.428000											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	127					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21623145	21623145	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr12:21623145T>G	uc001rex.3	-	15	2281	c.1933A>C	c.(1933-1935)Aaa>Caa	p.K645Q	RECQL_uc001rey.3_Missense_Mutation_p.K645Q|PYROXD1_uc001rew.3_3'UTR|PYROXD1_uc009ziq.3_3'UTR	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	645					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCATCGATTTTTCTTTTCTTA	0.313000								Other identified genes with known or suspected DNA repair function					159	96					0	0	1	0	0
PAFAH1B2	5049	broad.mit.edu	37	11	117038364	117038364	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr11:117038364C>G	uc001pqe.2	+	5	781	c.639C>G	c.(637-639)atC>atG	p.I213M	PAFAH1B2_uc021qqv.1_Intron|PAFAH1B2_uc009yzn.3_Intron|PAFAH1B2_uc009yzm.3_Intron|PAFAH1B2_uc001pqf.3_Non-coding_Transcript|PAFAH1B2_uc009yzl.2_Intron|PAFAH1B2_uc009yzk.2_Intron	NM_002572	NP_002563	P68402	PA1B2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) (PAFAH1B2), transcript variant 1, mRNA.	213					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		ATGAACTGATCATGCAGTTGT	0.488000			T	IGH@	MLCLS								106	140					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76449535	76449535	+	Silent	SNP	G	G	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr17:76449535G>T	uc010dhp.2	-	64	10544	c.10419C>A	c.(10417-10419)gtC>gtA	p.V3473V	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTGCTCGATGACATCCAGGT	0.617000													101	99					1.9362e-44	2.29719e-44	1	1	0
PSMA1	5682	broad.mit.edu	37	11	14536021	14536021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr11:14536021C>A	uc001mll.3	-	5	634	c.289G>T	c.(289-291)Gag>Tag	p.E97*	PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_Nonsense_Mutation_p.E91*|PSMA1_uc010rcq.2_Nonsense_Mutation_p.E91*	NM_148976	NP_683877	P25786	PSA1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA.	91					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	RNA binding|protein binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TCCAAACACTCCTGACGCATA	0.308000													31	53					1.03484e-13	1.09755e-13	1	1	0
TRPV1	7442	broad.mit.edu	37	17	3480482	3480482	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr17:3480482A>G	uc010vro.2	-	11	1784	c.1751T>C	c.(1750-1752)aTc>aCc	p.I584T	TRPV1_uc010vrp.2_Missense_Mutation_p.I513T|TRPV1_uc010vrq.2_Missense_Mutation_p.I571T|TRPV1_uc010vrr.2_Missense_Mutation_p.I573T|TRPV1_uc010vrs.2_Missense_Mutation_p.I573T|TRPV1_uc010vrt.2_Missense_Mutation_p.I573T|TRPV1_uc010vru.2_Missense_Mutation_p.I573T	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	573					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GTCTCTCAGGATCATCTGCAG	0.602000													94	101					0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	170013708	170013708	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr3:170013708delA	uc003fgs.2	+	14	1665	c.1427delA	c.(1426-1428)gaafs	p.E476fs	PRKCI_uc003fgt.2_Frame_Shift_Del_p.E31fs	NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	476	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTTATTTTGGAAAAACAAATT	0.289													42	43	---	---	---	---					
AK126380	0	broad.mit.edu	37	11	1999420	1999420	+	RNA	DEL	C	C	-			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr11:1999420delC	uc001luy.1	+	0		c.4432delC								Homo sapiens cDNA FLJ44416 fis, clone UTERU2000649.																		CCCAGGCAGACGGCGGGCCTA	0.642													2	4	---	---	---	---					
LOC100506388	100506388	broad.mit.edu	37	17	181047	181048	+	Translation_Start_Site	INS	-	-	GAGCCAAATGCTGCAGAGATGAAGGGAGACGGAAG	rs11268121	by1000genomes	TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr17:181047_181048insGAGCCAAATGCTGCAGAGATGAAGGGAGACGGAAG	uc021tmz.1	+	0	52_53	c.-301_-300insGAGCCAAATGCTGCAGAGATGAAGGGAGACGGAAG	c.(-303--298)acagag>acaGAGCCAAATGCTGCAGAGATGAAGGGAGACGGAAGgag		RPH3AL_uc002fre.2_Intron|RPH3AL_uc021tmx.1_Intron|RPH3AL_uc002frf.2_Intron|RPH3AL_uc010cjl.2_Intron|LOC100506388_uc021tmy.1_Non-coding_Transcript	NM_001242780	NP_001229709			Homo sapiens uncharacterized LOC100506388 (LOC100506388), transcript variant 1, mRNA.																		GAAGAGCCACAGAGCCAAATGC	0.599													2	4	---	---	---	---					
KRTAP4-3	85290	broad.mit.edu	37	17	39324229	39324230	+	In_Frame_Ins	INS	-	-	GCAGCAGGTGGTCAG	rs140140641	by1000genomes	TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr17:39324229_39324230insGCAGCAGGTGGTCAG	uc010cxl.3	-	0	195_196	c.195_196insCTGACCACCTGCTGC	c.(193-198)insCTGACCACCTGCTGC	p.65_66insLTTCC		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	Homo sapiens keratin associated protein 4-3 (KRTAP4-3), mRNA.	65	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			caggtggtcctgcagcagctgg	0.629													43	166	---	---	---	---					
LRRC37A	9884	broad.mit.edu	37	17	44410017	44410018	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr17:44410017_44410018insT	uc002ikg.3	+	9	4807_4808	c.4804_4805insT	c.(4804-4806)attfs	p.I1602fs	ARL17B_uc002iki.4_Intron|ARL17B_uc002ikf.3_Intron|LRRC37A_uc002ikj.3_Frame_Shift_Ins_p.I563fs|LRRC37A_uc010daw.2_Frame_Shift_Ins_p.I532fs	NM_014834	NP_055649	A6NMS7	L37A1_HUMAN	Homo sapiens leucine rich repeat containing 37A (LRRC37A), mRNA.	1602						integral to membrane				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TTTCTGCCTCATTGTGGTAAGG	0.376													20	27	---	---	---	---					
ANKLE1	126549	broad.mit.edu	37	19	17397488	17397501	+	Frame_Shift_Del	DEL	TGTGTGTGTGTGTT	TGTGTGTGTGTGTT	-	rs10606406		TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr19:17397488_17397501delTGTGTGTGTGTGTT	uc010xpn.1	+	7	2034_2047	c.1920_1933delTGTGTGTGTGTGTT	c.(1918-1935)tgtgtgtgtgtgtgtttgfs	p.C640fs	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_3'UTR|ANKLE1_uc010eao.1_3'UTR|ANKLE1_uc002nfy.2_3'UTR|ANKLE1_uc002nfz.2_3'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	0						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						tgtgtgtgtgtgtgtgtgtgtgtttgtgtgtgtg	0.528													8	6	---	---	---	---					
PLAC4	191585	broad.mit.edu	37	21	42551433	42551433	+	Frame_Shift_Del	DEL	G	G	-	rs5844069		TCGA-IA-A40U-01A-11D-A25F-10	TCGA-IA-A40U-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd80d4b5-7825-4f99-b2e2-2559763b8661	384b9f8f-9231-4ab8-b556-8083ee51d965	g.chr21:42551433delG	uc002yyz.3	-	0	5734	c.123delC	c.(121-123)cccfs	p.P41fs	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	41				P -> H (in Ref. 1; AAG23170).									Prostate(19;2.29e-06)				GACGGTGTCTGGGGTGAGTGA	0.607													16	95	---	---	---	---					
