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
DCAF6	55827	broad.mit.edu	37	1	167973820	167973820	+	Silent	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:167973820T>C	uc001gew.3	+	9	1520	c.1167T>C	c.(1165-1167)agT>agC	p.S389S	DCAF6_uc001gex.3_Silent_p.S389S|DCAF6_uc010plk.2_Silent_p.S358S|DCAF6_uc001gev.3_Silent_p.S389S|DCAF6_uc001gey.3_Silent_p.S242S	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	389					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						tcccatcaagtcctgatttgg	0.378000													2	14					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415641	19415641	+	RNA	SNP	A	A	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:19415641A>T	uc010tcj.1	-	0		c.30469T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		aaaaaaaaaaaaacccaaaca	0.418000													3	15					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132196839	132196839	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr3:132196839A>G	uc003eor.3	+	23	2629	c.2564A>G	c.(2563-2565)aAt>aGt	p.N855S		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	855							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAATTTTTCAATGAGCTTTAT	0.343000													5	25					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52869403	52869403	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:52869403G>A	uc003gzi.3	-	1	659	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	218						integral to membrane		p.D217N(2)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AATTTTTTGAGGTCCTTGAAG	0.348000													5	52					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212858	131212858	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chrX:131212858G>T	uc004ewn.3	-	11	1365	c.1187C>A	c.(1186-1188)tCc>tAc	p.S396Y	FRMD7_uc022cdy.1_Missense_Mutation_p.S276Y|FRMD7_uc011muy.2_Missense_Mutation_p.S381Y	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	396					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTCTGGTTTGGAatgctccag	0.478000													40	100					0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054658	106054658	+	Silent	SNP	T	T	G	rs114771275	by1000genomes	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:106054658T>G	uc001yrt.3	-	1	124	c.93A>C	c.(91-93)gcA>gcC	p.A31A	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GGACCAGGCATGCGACGACCA	0.622000													3	84					0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941915	6941915	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr17:6941915T>A	uc002geh.3	+	2	1096	c.788T>A	c.(787-789)cTc>cAc	p.L263H		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	263						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTCTGACCTCGTGGGGCGT	0.587000													12	123					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419995	19419995	+	RNA	SNP	C	C	G	rs78291036	by1000genomes	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:19419995C>G	uc010tcj.1	-	0		c.26115G>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GAACTAAGAACAGTTAGATAA	0.294000													3	43					0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43023654	43023654	+	Silent	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:43023654G>A	uc003ots.1	-	4	735	c.612C>T	c.(610-612)gcC>gcT	p.A204A	CUL7_uc003otq.3_5'Flank|CUL7_uc011dvb.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.2_3'UTR	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA.	204					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GGATATATTGGGCACCCCGGC	0.557000													5	50					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427856	47427856	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:47427856C>T	uc003gxh.3	+	8	1620	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	GABRB1_uc011bze.2_Missense_Mutation_p.R346C	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	416					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGCCTACGGGCGCGCCCTGGA	0.642000													8	28					0	0	1	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565214	156565214	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:156565214T>C	uc001fpm.3	-	7	967	c.919A>G	c.(919-921)Aag>Gag	p.K307E	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.3_Missense_Mutation_p.K302E	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	Homo sapiens G patch domain containing 4 (GPATCH4), transcript variant 1, mRNA.	302						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCCCCATCTTCTCCTCTTCA	0.537000													25	172					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69085781	69085781	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:69085781G>T	uc001suf.3	+	4	452	c.337G>T	c.(337-339)Gca>Tca	p.A113S	NUP107_uc001sug.3_Intron|NUP107_uc010stj.2_Missense_Mutation_p.A84S	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	113					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGGGCAGCTGCATTTTCATC	0.393000													6	42					0	0	1	0	0
SNRPC	6631	broad.mit.edu	37	6	34738121	34738121	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:34738121A>T	uc003ojt.2	+	4	754	c.304A>T	c.(304-306)Atg>Ttg	p.M102L	SNRPC_uc021yyv.1_Missense_Mutation_p.M61L|SNRPC_uc021yyw.1_Missense_Mutation_p.M123L	NM_003093	NP_003084	P09234	RU1C_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide C (SNRPC), transcript variant 1, mRNA.	102					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGGCCCTCCCATGATGCCAAT	0.502000													16	90					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101612649	101612649	+	Silent	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr8:101612649T>C	uc003yjr.3	-	8	853	c.702A>G	c.(700-702)aaA>aaG	p.K234K	SNX31_uc011lha.2_Silent_p.K29K|SNX31_uc011lhb.2_Silent_p.K135K	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	234					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGGCCCATCCTTTTTCAATGT	0.358000													3	129					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:108518661T>C	uc001vql.3	-	0	800	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	95	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731000													3	18					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520915	52520915	+	Missense_Mutation	SNP	G	G	A	rs147980330		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:52520915G>A	uc001wzo.3	-	3	1126	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	NID2_uc010tqs.2_Missense_Mutation_p.R298C|NID2_uc010tqt.1_Missense_Mutation_p.R298C|NID2_uc001wzp.3_Missense_Mutation_p.R298C	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	298						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGAAGGAACGTCCCAGGGGA	0.517000													6	26					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46918950	46918950	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:46918950C>A	uc010acl.3	-	13	2407	c.1802G>T	c.(1801-1803)gGc>gTc	p.G601V	KIAA0226L_uc010tfy.2_Missense_Mutation_p.G124V|KIAA0226L_uc001vbf.4_Missense_Mutation_p.G534V|KIAA0226L_uc010tfz.2_Missense_Mutation_p.G444V|KIAA0226L_uc010acn.3_Missense_Mutation_p.G386V|KIAA0226L_uc010acm.3_Missense_Mutation_p.G466V|KIAA0226L_uc001vbe.4_Missense_Mutation_p.A550S|KIAA0226L_uc001vbh.4_Missense_Mutation_p.G601V|KIAA0226L_uc001vbi.4_Missense_Mutation_p.G444V	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	601										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ACAAATAAAGCCCTTTCCTTG	0.338000													3	25					0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112673539	112673539	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:112673539G>A	uc021reb.1	-	35	5488	c.5092C>T	c.(5092-5094)Ctc>Ttc	p.L1698F		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.									p.M1697V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGGGAGAGGAGTTTGGACACA	0.522000													4	20					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52756045	52756045	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:52756045C>T	uc001sag.3	-	6	1408	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	430	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTGTTCCTCGCCCTCCAGC	0.582000													19	70					0	0	1	0	0
TRAF5	7188	broad.mit.edu	37	1	211534503	211534503	+	Splice_Site	SNP	C	C	T	rs113925874		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:211534503C>T	uc010psx.2	+	7	814	c.729_splice	c.e7+1	p.T243_splice	TRAF5_uc001hih.3_Splice_Site_p.T232_splice|TRAF5_uc001hii.3_Splice_Site_p.T232_splice|TRAF5_uc010psy.2_Intron|TRAF5_uc001hij.3_Splice_Site_p.T232_splice	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	232					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGTGCTGTAACGGTATGGAAT	0.413000													10	55					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226924561	226924561	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:226924561C>A	uc010pvo.2	-	1	939	c.599G>T	c.(598-600)cGg>cTg	p.R200L	ITPKB_uc001hqh.3_Missense_Mutation_p.R200L	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	200							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTTTGTCCTCCGTTCCTCGCT	0.662000													3	71					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40915989	40915989	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr15:40915989G>A	uc010bbs.1	+	10	3766	c.3605G>A	c.(3604-3606)tGt>tAt	p.C1202Y	CASC5_uc010ucq.1_Missense_Mutation_p.C1026Y|CASC5_uc001zme.3_Missense_Mutation_p.C1176Y|CASC5_uc010bbt.1_Missense_Mutation_p.C1176Y	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	1202					CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCATTGACTGTCAAGCCACA	0.373000													9	40					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120918486	120918486	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:120918486T>C	uc002tmg.3	+	20	2014	c.1823T>C	c.(1822-1824)cTc>cCc	p.L608P	EPB41L5_uc010fll.3_Missense_Mutation_p.L608P|EPB41L5_uc010flm.3_Missense_Mutation_p.L412P	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	608						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AATGTGCCCCTCCCCAAAGAG	0.393000													3	167					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58002362	58002362	+	Silent	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:58002362G>A	uc001sow.1	+	5	1147	c.810G>A	c.(808-810)ccG>ccA	p.P270P	DTX3_uc001sox.1_Silent_p.P263P|DTX3_uc001soy.1_Silent_p.P263P|ARHGEF25_uc009zpy.3_5'Flank|ARHGEF25_uc001soz.1_5'Flank|ARHGEF25_uc001spb.3_5'Flank|ARHGEF25_uc001spa.3_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	270					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCTACCTCCCGGACTGCCCTG	0.617000													3	56					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23652104	23652104	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:23652104T>C	uc001wiz.3	-	0	746	c.20A>G	c.(19-21)cAc>cGc	p.H7R	SLC7A8_uc010akj.3_Missense_Mutation_p.H7R	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	7					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTTGTTTCGGTGCCTGGCTCC	0.537000													6	186					0	0	1	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071135	150071135	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:150071135G>A	uc002twv.1	+	6	936	c.535G>A	c.(535-537)Gta>Ata	p.V179I	LYPD6B_uc002tww.1_Missense_Mutation_p.V141I|LYPD6B_uc002twx.1_Missense_Mutation_p.V141I	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	Homo sapiens LY6/PLAUR domain containing 6B (LYPD6B), mRNA.	155						anchored to membrane|plasma membrane		p.A178V(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						AGTGTTTGCCGTAATGCACGC	0.483000													4	189					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr11:3380510T>C	uc001lxt.3	-	5	1910	c.1728A>G	c.(1726-1728)aaA>aaG	p.K576K	ZNF195_uc010qxr.2_Silent_p.K557K|ZNF195_uc009ydz.3_Silent_p.K531K|ZNF195_uc001lxu.3_Silent_p.K508K|ZNF195_uc001lxv.3_Silent_p.K553K|ZNF195_uc021qck.1_Silent_p.K508K|ZNF195_uc001lxs.3_Silent_p.K504K	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393000													3	84					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61777895	61777895	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr8:61777895G>A	uc003xue.3	+	37	8889	c.8397G>A	c.(8395-8397)atG>atA	p.M2799I	CHD7_uc022aux.1_Missense_Mutation_p.M750I	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2799					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGCCCCTGATGCTGCCAGGAA	0.622000													3	14					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225370686	225370686	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:225370686T>C	uc010fwy.1	-	7	1264	c.1211A>G	c.(1210-1212)aAg>aGg	p.K404R	CUL3_uc010zls.1_Missense_Mutation_p.K332R|CUL3_uc002vny.2_Missense_Mutation_p.K398R	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	398					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTTGACTCCCTTTTTCAGCTT	0.294000													3	63					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73574941	73574941	+	Missense_Mutation	SNP	A	A	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr10:73574941A>C	uc001jrx.4	+	67	10352	c.9962A>C	c.(9961-9963)gAg>gCg	p.E3321A	CDH23_uc001jsg.4_Missense_Mutation_p.E1084A|CDH23_uc001jsh.4_Missense_Mutation_p.E1049A|CDH23_uc001jsi.4_Missense_Mutation_p.E1049A|CDH23_uc001jsj.4_Missense_Mutation_p.E221A|CDH23_uc010qjr.2_Missense_Mutation_p.E186A	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	3324					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTGCCTTCGAGCGCAACGCC	0.642000													4	16					0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161479821	161479821	+	Silent	SNP	C	C	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:161479821C>A	uc001gan.3	+	3	629	c.576C>A	c.(574-576)ggC>ggA	p.G192G	FCGR2A_uc001gam.3_Silent_p.G191G|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	192	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAACATAGGCTACACGCTGT	0.512000													12	89					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98351131	98351131	+	Silent	SNP	C	C	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:98351131C>T	uc002syd.1	+	8	1245	c.1038C>T	c.(1036-1038)tgC>tgT	p.C346C	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.C236C|ZAP70_uc002syf.1_Silent_p.C39C	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	346	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AACTTGGCTGCGGCAACTTTG	0.627000													35	136					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219353074	219353074	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:219353074G>T	uc010fvs.1	-	14	1956	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T	USP37_uc002vie.2_Missense_Mutation_p.P515T|USP37_uc010zkf.1_Missense_Mutation_p.P515T|USP37_uc002vif.2_Missense_Mutation_p.P515T|USP37_uc002vig.2_Missense_Mutation_p.P443T	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	515					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.P515Q(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGAGGGAGTGGTTTTTTCCTA	0.323000													8	85					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863886	192863886	+	Silent	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:192863886G>A	uc002utc.3	-	5	979	c.585C>T	c.(583-585)tgC>tgT	p.C195C		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	195	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CATCAGAAGCGCAGAGGGGAT	0.373000													14	72					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117243692	117243692	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr7:117243692G>A	uc003vjd.3	+	16	2896	c.2764G>A	c.(2764-2766)Gta>Ata	p.V922I	CFTR_uc011knq.2_Missense_Mutation_p.V328I	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	922	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTACGTGGGAGTAGCCGACAC	0.393000									Cystic Fibrosis				3	109					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62320582	62320582	+	Silent	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr15:62320582G>A	uc002agz.3	-	5	514	c.423C>T	c.(421-423)aaC>aaT	p.N141N	VPS13C_uc002aha.3_Intron|VPS13C_uc002ahb.2_Silent_p.N141N|VPS13C_uc002ahc.2_Intron	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	141					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGTAAACAAAGTTCTCCAAGC	0.388000													13	105					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38766807	38766807	+	Splice_Site	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr3:38766807T>C	uc003ciq.3	-	17	3088	c.3088_splice	c.e17-1	p.Q1030_splice		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1030					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGCTCCTGCTAGTGAGAGAG	0.582000													7	28					0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36728180	36728180	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:36728180A>T	uc002odq.4	+	3	2361	c.838A>T	c.(838-840)Aag>Tag	p.K280*	ZNF146_uc010eet.3_Nonsense_Mutation_p.K280*|ZNF146_uc010eeu.3_Nonsense_Mutation_p.K280*|ZNF146_uc021ute.1_Nonsense_Mutation_p.K280*	NM_007145	NP_009076	Q15072	OZF_HUMAN	Homo sapiens zinc finger protein 146 (ZNF146), transcript variant 1, mRNA.	280	Interaction with TERF2IP.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TTTCAGCCAGAAGTCACACCA	0.413000													5	44					0	0	1	0	0
FAM122A	116224	broad.mit.edu	37	9	71395167	71395167	+	Silent	SNP	C	C	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr9:71395167C>G	uc004agw.1	+	0	204	c.87C>G	c.(85-87)ggC>ggG	p.G29G	PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.	29	Poly-Gly.									endometrium(1)|lung(2)	3						GCGGCGGCGGCGGGGGCCTCA	0.721000													2	11					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120325	94120325	+	Silent	SNP	C	C	T	rs148725762		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:94120325C>T	uc003poe.3	-	2	967	c.726G>A	c.(724-726)gcG>gcA	p.A242A	EPHA7_uc003pof.3_Silent_p.A242A|EPHA7_uc011eac.2_Silent_p.A242A|EPHA7_uc003pog.4_Silent_p.A242A	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	242	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGGCGTTTTCCGCTTCTTCCT	0.473000													6	45					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	-	-			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:97847365_97847368delTAAT	uc010yva.2	+	25	2008	c.1764_splice	c.e25+2	p.K588_splice	ANKRD36_uc010fic.2_Splice_Site_p.K307_splice|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Splice_Site|ANKRD36_uc002sxq.2_Splice_Site	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	588										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													6	13	---	---	---	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	-	-			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr5:44388715_44388717delAGC	uc003jog.1	-	0	68_70	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	23					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													7	102	---	---	---	---					
HIST1H2BG	8339	broad.mit.edu	37	6	26216686	26216706	+	In_Frame_Del	DEL	GATGCCCATGGCCTTGGATGA	-	-	rs140919872	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:26216686_26216706delGATGCCCATGGCCTTGGATGA	uc003ngz.2	-	0	167_187	c.166_186delTCATCCAAGGCCATGGGCATC	c.(166-186)tcatccaaggccatgggcatcdel	p.SSKAMGI56del	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bg (HIST1H2BG), mRNA.	56					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				AGGAATTCATGATGCCCATGGCCTTGGATGAGATGCCAGTA	0.538													12	228	---	---	---	---					
PCID2	55795	broad.mit.edu	37	13	113854766	113854766	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:113854766delG	uc021rmt.1	-	1	182	c.101delC	c.(100-102)cctfs	p.P34fs	PCID2_uc021rmq.1_Frame_Shift_Del_p.P34fs|PCID2_uc021rmr.1_Frame_Shift_Del_p.P34fs|PCID2_uc021rms.1_Frame_Shift_Del_p.P34fs|PCID2_uc001vtg.2_Non-coding_Transcript	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	34					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TGCAACATGAGGATGTTTAAA	0.443													35	93	---	---	---	---					
RNF31	55072	broad.mit.edu	37	14	24619808	24619809	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:24619808_24619809insG	uc001wmn.1	+	7	1448_1449	c.1199_1200insG	c.(1198-1200)cagfs	p.Q400fs	RNF31_uc001wml.1_Frame_Shift_Ins_p.Q249fs|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Frame_Shift_Ins_p.Q215fs|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	400	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCTTCCCAGCAGGGGGATGCTT	0.520													51	382	---	---	---	---					
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	-	-	rs66598941		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr17:1631341_1631343delGAG	uc002ftj.2	+	0	3217_3219	c.3088_3090delGAG	c.(3088-3090)gagdel	p.E1033del	WDR81_uc002fth.2_5'UTR|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	305										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695													9	4	---	---	---	---					
GHDC	84514	broad.mit.edu	37	17	40345560	40345562	+	In_Frame_Del	DEL	GCA	-	-			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr17:40345560_40345562delGCA	uc002hzd.3	-	1	522_524	c.38_40delTGC	c.(37-42)ctgcca>cca	p.L13del	GHDC_uc002hzg.2_In_Frame_Del_p.L13del|GHDC_uc010wgg.2_In_Frame_Del_p.L13del|GHDC_uc002hze.4_In_Frame_Del_p.L13del|GHDC_uc002hzf.4_In_Frame_Del_p.L13del|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	13						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCCAATGTTGgcagcagcagcag	0.631													2	4	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr22:43213780delT	uc003bdd.2	-	9	1116	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_uc010gzf.2_Frame_Shift_Del_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Del_p.N227fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													9	239	---	---	---	---					
